Adenoma-benign tumor made up of glandular elements
Antioxidant-lessens the effects of poisons or other substances that are harmful to humans and animals
Asymptomatic-without symptoms
Anemia-a condition where the blood is lacking in red blood cells and possibly other essential parts Barium-an alkaline element found in the earth Biopsy-microscopic examination of a small piece of tissue from the body; the only sure way to know whether a growth is a cancer
Benign-noncancerous
Clinical trials-using humans in medical tests Colonoscope-a small, flexible, lighted, long, fiberoptic instrument used to examine the entire colon Digestive tract-area of the body which digests foods
Fiberoptic-technique for transmitting light and optical images along flexible coated glass or plastic fibers
Lymph-a transparent, slightly yellow, alkaline liquid found in the lymphatic vessels and derived from fluids in the body's tissues
Malignant-cancerous
Metastasize-spread of a disease from one organ or part of the body to another not directly connected with it
National Institutes of Health-part of the U.S. Department of Health and Human Services
Node-a small mass of tissue in the form of a swelling, knot or protuberance, either normal or diseased Outpatient-not a patient in a hospital Precancerous-a physical condition that tends eventually to become malignant
Preclinical-before a medicine is used in humans
Polyp-a growth sometimes like a wart) within the body
Radical surgery-surgery designed to remove all areas of an extensive disease as well as the nearby lymph nodes
Tumors-swelling, new growth of tissue
Scans-mechanical examinations of various parts of the body
Sigmoidoscopy-an examination of the sigmoid portion of the colon
Stool-feces
Ulcerative colitis-chronic, recurring ulceration of the colon
Ulcerative-a localized "sore" on the surface of a tissue or organ
When reading about cholesterol and nutrition, you may run across some
words that are important to understand if you are trying to fully grasp the meaning of the articles you are studying. This glossary may be used to help clarify the meaning and use of important words used in material on the subject of cholesterol.
ATHEROSCLEROSIS: Essentially a type of hardening of the arteries; it's a condition in which the walls of the arteries become less flexible because of the buildup of cholesterol, fat and other blood components within them. Arteries to the heart may narrow due to atherosclerosis and become incapable of carrying enough oxygen-rich blood to the muscles of the heart.
CARBOHYDRATE: One of the three types of nutrients (along with fat and protein) that provide energy to the body. There are four calories in each gram of carbohydrate, an essential ingredient for normal body function. There are two basic types of carbohydrates: "simple" carbohydrates (sugars), and "complex" carbohydrate (starches and fiber).
Complex carbohydrate: Starch and fiber, usually found in plants or vegetables. When complex carbohydrates are substituted for saturated fats in the diet, the saturated fat reduction lowers blood cholesterol. High amounts of starch may be found in breads, pasta, rice, cereals, dried beans and peas, corn and lima beans.
Fiber: The body is unable to digest or absorb this type of complex carbohydrate, so high-fiber foods are low in calories. Large amounts of fiber are found in whole-grain cereals, oat and barley brans, some fruits such as apples and oranges, as well as dried beans.
CHOLESTEROL: A soft, waxy substance that is important for normal body function and is produced in sufficient quantity by the body. It is involved in the production of certain hormones, bile acid and Vitamin D. It may be found in tissues in all parts of the body, including the nervous system, muscle, skin, heart, intestines and liver.
Blood Cholesterol: May be from both cholesterol absorbed from food and cholesterol produced in the liver, it is distributed to tissues throughout the body by the blood. A high level of blood cholesterol precedes the development of atherosclerosis and coronary artery disease.
Dietary Cholesterol: The amounts of cholesterol contained in the foods you consume. It is present only in foods derived from animals, and is not contained in foods that are of plant origin.
CORONARY ARTERY DISEASE: A disease of the arteries of the heart. The arteries become narrower due to the effects of arteriosclerosis, and fail to provide sufficient amounts of oxygen and nutrient-carrying blood to the tissues (muscles) of the heart, leading to chest pain, heart attack and death.
FAT: One of the three types of nutrients, fat provides nine calories per gram, more than twice the amount contained in an equal quantity of either carbohydrates or proteins. Fats help in the absorption of certain vitamins and, in small amounts, are necessary for normal body function.
Total Fat: The total of all types of fats (saturated, monounsaturated and polyunsaturated) contained in food. In general, a mixture of all three is found in most foods.
Saturated Fat: This type of fat is found in the largest amounts in foods derived from animals, including meat, poultry, and dairy products made from milk, such as cream, cheese, ice cream and butter. However, some vegetable oils, including coconut, palm kernel and other palm oils, also contain large amounts of saturated fats. Blood cholesterol increases more from saturated fats than any other food element in the diet.
Unsaturated Fat: This type of fat remains in a liquid state at refrigerator temperatures. Both monounsaturated and polyunsaturated fats are in this classification.
Monounsaturated Fat: This is a type of fat that is slightly unsaturated and is contained in foods made from plants, including olive oil and canola (rapeseed oil). When these types of fats are substituted for saturated fats in the diet, blood cholesterol is reduced.
Polyunsaturated Fat: Considered highly unsaturated, this type of fat is found in oils made from safflower, sunflower, corn and soybean. It also acts to reduce the amount of blood cholesterol when substituted for saturated fats in the diet.
GRAM: A unit of weight. One ounce equals about 28 grams (g). Most diets measure the various contents of food products using this unit of weight.
HYDROGENATION: A chemical process that changes liquid vegetable oils that are made of unsaturated fats, into a solid form that contains saturated fats. While this process makes it possible to keep these products on supermarket shelves for longer periods of time, it also increases the content of undesirable saturated fats.
LIPIDS: These are fatty substances that are present in the blood and body issues, and includes cholesterol and triglycerides.
LIPOPROTEINS: Used to describe the protein-coated "packages" or particles that carry fats (such as cholesterol) through the blood. Lipoproteins are classified according to their density.
High Density Lipoproteins (HDL): This form of lipoprotein contains a small amount of cholesterol and carries cholesterol away from the body cells and tissues to the liver for excretion from the body. Thus, the higher the level of HDL the better, and so this substance is known as the "good" cholesterol.
Low Density Lipoprotein (LDL): These are the lipoproteins in the blood that carry the largest amounts of cholesterol. Because LDL is responsible for depositing cholesterol in the walls of arteries, high levels are associated with an increased risk of coronary heart disease. This is the substance referred to as "bad" cholesterol.
MILLIGRAM: A unit of weight equal to one-thousandth of a gram. One ounce equals 28,350 milligrams (mg).
MILLIGRAMS/DECILITER (mg/dl): This unit is used to express the concentration of a given weight of a substance dissolved in a quantity of liquid. The amount of cholesterol in the blood is measured in this manner, indicating the weight of cholesterol (mg) in a deciliter of blood. A deciliter is about one-tenth of a quart.
PROTEIN: One of the three types of nutrients. One gram or protein supplies four calories, less than half the amount contained in one gram of fat. Protein is an essential building block of many parts of the body, including muscle, bone, skin and blood.
RISK FACTOR: A habit, trait or condition in a person that is associated with an increased chance of developing a particular disease. These factors are established by studying the results of many clinical investigations that develop the statistics needed to discover the relationships.
TRIGLYCERIDES: A type of lipid (fat-like substance) carried in the bloodstream to the tissues. Most of the body's fat tissue is in this form, stored for use as energy. Triglycerides are obtained from the fat in the diet.
VASCULAR DISEASE: A disease or ailment of the blood vessels, frequently caused by atherosclerosis. Vascular disease may be seen in arteries to the brain, heart and in the leg.
Adult-onset diabetes--Former name for non-insulin-dependent diabetes
Angiopathy--A disease of the blood vessels
Atherosclerosis--A condition in which fat and clotted blood builds up in the large-and medium-sized arteries
Beta cells--The cells of the pancreas that produce insulin
Blood-glucose monitoring--A method of checking how much blood sugar (glucose) is in the blood
Carbohydrate--One of the three main classes of food and a source of energy
Cholesterol--A fatlike substance that is found in food and is made by the body
Circulation--The flow of blood within the body
Diabetes mellitus--A disease that occurs when the body is not able to use sugar for energy as it should Fats--One of the three main classes of foods; can be either saturated, monunsaturated or polyunsaturated
Gestational diabetes mellitus--A type of diabetic mellitus that occurs when a woman is pregnant
Glucagon--A hormone that raises blood-sugar levels, sometimes used to treat insulin reactions
Glucose--A simple sugar found in the blood, serving as the body's main source of energy
Hormone--A chemical within the body that acts as a messenger, telling cells what to do
Hyperglycemia-- High blood-sugar levels
Hypoglycemia--Low blood-sugar levels
Insulin--The hormone the body uses to regulate blood sugar and allow it into the cells
Insulin-dependent diabetes mellitus--Chronic condition where the pancreas does not make enough insulin
Insulin reaction--Effects of too much insulin, causing very low blood-sugar levels
lslets of Langerhans--The groups of cells within the pancreas that contain the beta cells that make insulin
Ketoacidosis--The buildup of ketones in the blood due to poorly controlled diabetes; can lead to coma and death
Lancet--Sharp instrument used for pricking skin
Maturity-onset diabetes--Former name for non-insulin-dependent diabetes
Nephropathy--Disease or damage of the kidneys
Neuropathy--Disease or damage of the nervous system
Non-insulin-dependent diabetes mellitus--A form of diabetes where the body is resistant to insulin
Oral hypoglycemic agents--Medications used to control blood-sugar levels
Pancreas--The organ that makes insulin; it is found behind and under the stomach
Pre-eclampsia--A condition during pregnancy marked by high blood pressure and water retention
Protein--One of the three main classes of foods
Retina--The inside layer of the back of the eyeball that senses light
Retinopathy--Disease or damage to the retina
Sugar--A type of simple carbohydrate that tastes sweet
Sulfonylureas--Oral hypoglycemic agents
Type I diabetes--Insulin-dependent diabetes
Type 11 diabetes--Non-insulin-dependent diabetes
Urine testing--Checking urine for glucose and ketones as a way of monitoring blood-glucose levels
Vitrectomy--Removal of the clear jellylike fluid from the eye after it has become clouded due to bleeding
ADRDA: Alzheimer's Disease & Related Disorders Association,
1-800-621-0379 (in Illinois, 1-800-572-6037).
AAFP: American Academy of Family Practice has a "Help Yourself to Health" series. Contact Dr. Herb Young, AAFP, 1740 W. 92nd St., Kansas City, Mo. 64114, or call 1-800-821-2512.
AARP: American Association of Retired Persons, 1909 K St., N.W., Washington, D.C. Membership costs $5 a year. This association has many benefits for people over age 50 (retired or not), including non-profit pharmacy service, free publications on health, housing, consumer fights, and more.
American Association of Homes for the Aging 1129 20th St., N.W., Suite 400, Washington, D.C. 20036. A free packet of care-giving brochures is available by sending a self-addressed, legal-size, stamped envelope (39 cents) to the address above.
ACS: American Cancer Society, 90 Park Ave., New York, N.Y. 10016.,
ADA: American Diabetes Association Inc., 600 5th Ave. New York, N.Y. 10020i
American Foundation for the Blind Inc., 15 W. 16th St., New York, N.Y. 10011.
ARA: American Heart Association, 7320 Greenville, Dallas, Texas 75231.
American Lung Association, 1740 Broadway, New York, N.Y. 10019. American Podiatric Medical Association, Chevy Chase Circle, Western Ave., Washington, D.C. 20015, or call (202) 537-4900.
American Red Cross, 18th & E St., N.W., Washington, D.C. 20096.
Arthritis Foundation, 1413 Spring St., N.W., Atlanta, Ga. 30309.
Association for Hearing and Speech Action 814 Thayer Ave., Silver Spring, Md. 20910. (Same address for the National Association of the Deaf.)
CAPS: Children of Aging Parents, 2761 Trenton Rd., Levittown, Penn. 19056. A list of support groups (especially for Alzheimer's disease), a long-distance directory of case-management workers, and care-giving booklets are available from the address above.
Lifeline Program: 1-800-451-0525 (in Massachusetts, 1-800-441-4014). This is a personal emergency response system provided in communities. Write to Lifeline Systems Inc., One Arsenal Marketplace, Watertown, Mass., or call (617) 923-4141.
National Association of Area Agencies on Aging, 600 Maryland Ave., S.W., Suite 208, Washington, D.C. 20024. This organization can give information about local county aging services that plan, coordinate and advocate programs and services for county residents over the age of 60: senior activity centers, meals on wheels, transportation, outreach programs, health screening centers, foster grandparents, volunteer opportunities, home services alternatives to nursing homes, senior employment programs, chore services, legal services, senior companion programs, etc. These programs are funded by the Older Americans Act, which is a federal law providing grants to states for these community services.
National Association for Home Care, 519 C St., Stanton Park, Washington, D.C. 20002. NAHC is a national clearinghouse of information regarding home-care agencies.
National Clearinghouse on Aging, SCAN Social Gerontology Resource Center, P.O. Box 231, Silver Spring, Md. 20907. Provides lists of publications on nit topics, such as family support groups, self-help and day care for the elderly.
National Council on Aging Inc.: A national directory of care-giver support groups ($6.50) and guides on topics such as avoiding home accidents, and long-distance caregiving ($5.50 each) are available by writing to NCOA Publications, P.O. Box 7227, Ben Franklin Station, Washington, D.C. 20044.
National Hospice Organization, 1901 N. Fort Myer Dr., Suite 307, Arlington, Va. 22209, or call (703) 243-5900.
National Institute on Aging Information Center: Educational brochures on a variety of topics can be obtained by writing to 2209 Distribution Circle, Silver Springs, Md. 20910, or calling (301) 495-3455.
National Library Service for the Blind & Physically Handicapped, Library of Congress, 1291 Taylor St., N.W., Washington, D.C. 20542. Telephone number is (202) 287-5100.
National Parkinson's Foundation. 1-800-327-4545 (in Florida, call 1-800-433-7022; in Miami, call 305-547-6666). Parkinson's Disease Foundation, 640 W. 168th St., New York, N.Y. 10032.
National Patient Education Library, 2900 Baltimore Medical Building, Suite 400, Kansas City, Mo. 64108. Telephone number is 1-800-821-6671.
National Rehabilitation Information Center, 4407 8th St., N.E., Washington, D.C. 20017. Provides information and fact sheets on research, products and resources related to the care of patients with physical limitations. Telephone number is 1-800-34-NARIC, or (202) 653-5826.
National Society for the Prevention of Blindness Inc., 70 Madison Ave., New York, N.Y. 10016. Telephone number is (212) 684-3505.
Tele-Consumer Hotline: Gives information about telephone services by providing fact sheets on problems and a resource directory of devices for people with impaired hearing, speech or vision. Telephone number is 1-800-332-1124.
Other potential resources: United Way Agencies, hospice organizations within a community, local hospitals (which might be able to provide weekend or respite care), religious organizations within a community, university gerontologic programs or geriatric education centers.
Creative Multimedia Corporation (CMC) warrants that CMC's software and the media on which it is recorded will work substantially in accordance with CMC's operating instructions, when used on equipment meeting CMC's specifications. CMC gives this warranty to the first consumer owner only. If you have problems within the first 90 days after you buy it, return the software to us, postage prepaid, with your purchase receipt, to:
Warranty Department
Creative Multimedia Corporation
514 N.W. 11th Ave., Suite 203
Portland, Oregon 97209
and if we find it to be defective, we will replace it with one that works on equipment meeting our specifications.
YOU MUST RETURN YOUR REGISTRATION CARD TO BE ELIGIBLE FOR THIS REMEDY. If you lose your card, let us know; we'll send you another.
YOUR REMEDIES ARE LIMITED TO THOSE DESCRIBED ABOVE, CMC WILL NOT BE RESPONSIBLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES, LOSS OF DATA OR LOSS OF USE, OR ANY OTHER FORM OF DAMAGE, EXCEPT AS ENCOMPASSED IN THE REPLACE OR REFUND REMEDY DESCRIBED ABOVE. Some States do not allow the exclusion or limitation of incidental or consequential damages, so the above limitation or exclusion may not apply to you.
This warranty gives you specific legal rights, and you may also have other rights which vary from state to state....
pageTitle
User Warranty
User Warranty
00002.txt
pageTitle
CREATIVE MULTIMEDIA SOFTWARE LICENSE
"U"Copyright (c) 1993 Creative Multimedia
SOFTWARE LICENSE
_________________________
PLEASE READ THIS LICENSE CAREFULLY BEFORE USING THE SOFTWARE. BY USING THE SOFTWARE YOU ARE AGREEING TO BE BOUND BY THE TERMS OF THIS LICENSE. IF YOU DO NOT AGREE TO THE TERMS OF THIS LICENSE, PROMPTLY RETURN THE UNUSED SOFTWARE TO THE PLACE WHERE YOU OBTAINED IT AND YOUR MONEY WILL BE REFUNDED.
1. License. The application, demonstration, system and other software accompanying this License, whether on a Disk, in read only memory, or on any other media (the "Software") and related documentation are licensed to you by Creative Multimedia Corporation ("CMC"). You own the disk on which the Software is recorded but CMC and/or CMC's Licensors retain title to the Software and related documentation. This License allows you to use the Software on a single computer. You may also transfer all your license rights in the Software, the backup copy of the Software, the related documentation and a copy of this License to another party, provided the other party reads and agrees to accept the terms and conditions of this License.
2. Restrictions. The Software contains copyrighted material, trade secrets
and other proprietary material and in order to protect them you may not decompile, reverse engineer, disassemble or otherwise reduce the Software to a human-perceivable form. You may not modify, network, rent, lease, loan, distribute or create derivative works based upon the Software in whole or in part. You may not electronically transmit the Software from one computer to another or over a network.
3. Termination. This License is effective until terminated. You may terminate this License at any time by destroying the Software and related documentation and all copies thereof. This License will terminate immediately without notice from CMC if you fail to comply with any provision of this License. Upon termination you must destroy the Software and related documentation and all copies thereof.
4. Export Law Assurances. You agree and certify that neither the Software nor any other technical data received from CMC, nor the direct product thereof, will be exported outside the United States except as authorized and as permitted by the laws and regulations of the United States.
5. Government End Users. If you are acquiring the Software on behalf of any
unit or agency of the United States Government, the following provisions apply. The Government agrees:
(i) if the Software is supplied to the Department of Defense (DoD), the Software is classified as "Commercial Computer Software", and the Government is acquiring only "restricted rights" in the Software and its documentation as that term is defined in Clause 252.227-7013(c)(1) of the DFARS; and
(ii) if the Software is supplied to any unit or agency of the United States
Government other than DoD, the Government's rights in the Software and its documentation will be as defined in Clause 52.227-19(c)(2) of the FAR or, in the case of NASA, in Clause 18-52.227-86(d) of the NASA Supplement to the FAR.
6. Limited Warranty on Media. CMC warrants the discs on which the Software is recorded to be free from defects in materials and workmanship under normal use for a period of ninety (90) days from the date of purchase as evidenced by a copy of the receipt. CMC's entire liability and your exclusive remedy will be replacement of the disk not meeting CMC's limited warranty and which is returned to CMC or a CMC authorized representative with a copy of the receipt. CMC will have no responsibility to replace a disc damaged by accident, abuse or misapplication. ANY IMPLIED WARRANTIES ON THE DISCS, INCLUDING THE IMPLIED WARRANTIES OF MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE, ARE LIMITED IN DURATION TO NINETY (90) DAYS FROM THE DATE OF DELIVERY. THIS WARRANTY GIVES YOU SPECIFIC LEGAL RIGHTS, AND YOU MAY ALSO HAVE OTHER RIGHTS WHICH VARY FROM JURISDICTION TO JURISDICTION.
7. Disclaimer of Warranty on Software. You expressly acknowledge and agree that use of the Software is at your sole risk. The Software and related documentation are provided "AS IS" and without warranty of an kind and CMC and CMC's Licensor(s) (for the purposes of provisions 7 and 8, CMC and CMC's Licensor(s) shall be collectively referred to as "CMC") EXPRESSLY DISCLAIM ALL WARRANTIES, EXPRESS OR IMPLIED, INCLUDING, BUT NOT LIMITED TO, THE IMPLIED WARRANTIES OF MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE. CMC DOES NOT WARRANT THAT THE FUNCTIONS CONTAINED IN THE SOFTWARE WILL MEET YOUR REQUIREMENTS, OR THAT THE OPERATION OF THE SOFTWARE WILL BE UNINTERRUPTED OR ERROR-FREE, OR THAT DEFECTS IN THE SOFTWARE WILL BE CORRECTED. FURTHERMORE, CMC DOES NOT WARRANT OR MAKE ANY REPRESENTATIONS REGARDING THE USE OR THE RESULTS OF THE USE OF THE SOFTWARE OR RELATED DOCUMENTATION IN TERMS OF THEIR CORRECTNESS, ACCURACY, RELIABILITY, OR OTHERWISE. NO ORAL OR WRITTEN INFORMATION OR ADVICE GIVEN BY CMC OR A CMC AUTHORIZED REPRESENTATIVE SHALL CREATE A WARRANTY OR IN ANY WAY INCREASE THE SCOPE OF THIS WARRANTY. SHOULD THE SOFTWARE PROVE DEFECTIVE, YOU (AND NOT CMC OR A CMC AUTHORIZED REPRESENTATIVE) ASSUME THE ENTIRE COST OF ALL NECESSARY SERVICING, REPAIR OR
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EVEN IF CMC OR A CMC AUTHORIZED REPRESENTATIVE HAS BEEN ADVISED OF THE POSSIBILITY OF SUCH DAMAGES. SOME JURISDICTIONS DO NOT ALLOW THE LIMITATION OR EXCLUSION OF LIABILITY FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES SO THE ABOVE LIMITATION OR EXCLUSION MAY NOT APPLY TO YOU.
In no event shall CMC's total liability to you for all damages, losses, and
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LIKE) ARISING OUT OF THE USE OR INABILITY TO USE THE SOFTWARE EVEN IF CMC's LICENSOR HAS BEEN ADVISED OF THE POSSIBILITY OF SUCH DAMAGES. BECAUSE SOME JURISDICTIONS DO NOT ALLOW THE EXCLUSION OR LIMITATION OF LIABILITY FOR CONSEQUENTIAL OR INCIDENTAL DAMAGES, THE ABOVE LIMITATIONS MAY NOT APPLY TO
YOU. CMC's Licensor's liability to you for actual damages from any cause whatsoever, and regardless of the form of the action (whether in contract, tort (including negligence), product liability or otherwise), will be limited to $50." be limited to $50.""""""""""""""""""""""""""
CREATIVE MULTIMEDIA SOFTWARE LICENSEO TH
00003.txt
pageTitle
The Family Doctor, 3rd Edition Credits and Copyright
Credits and Copyright
_________________________
The Family Doctor Team:
Author & Editor: Allan H. Bruckheim, M.D., FAAFP
Development: David Bleckmann, Collin Bremner, Gene Ragan
Production: Mark Johnson, John Williamson, Theresa Inman,
Linda Wolffe, Kelly Clarke
Quality Assurance: Janise McMenamin
Executive Producer: Chen-Chi Yuan
Technical Writer: Steve Munger
Publisher: Judith D. Grillo
Executive Publisher: Eric Pozzo
Copyright Notice:
The video introduction in The Family Doctor was written and recorded by Dr. Allan H. Bruckheim who also serves as editor, author and advisor of the
CD-ROM title.
The Questions and Answers are based upon "The Family Doctor", a nationally syndicated copyrighted column by Tribune Media Services, Inc. Portions Copyright (c) 1991-1993, 1994 by Allan H. Bruckheim, M.D. and Tribune Media Services, Inc. All rights reserved.
The 900+ files of information on rare diseases used with permission from the National Organization for Rare Disorders, Inc., 100 Route 37, P.O. Box 8923, New Fairfield, CT. 06812-1783. Copyright (c) 1984-1993, 1994 by the National Organization for Rare Disorders, Inc.
The New Prescription Drug Reference Guide by the Editors of Consumer Guide (R) reprinted with permission from Publications International, Ltd. Copyright (c) 1993 by Publications International, Ltd. All rights reserved.
Basic First Aid animations developed by Dash Digital, 1631 SW Columbia, Portland, OR 97201. Copyright (c) 1993, 1994 by Creative Multimedia Corporation.
The Resources Section includes Associations & Foundations, Educational Resources and Support Groups and Health Update Booklets. These Resources were written, compiled and edited by Dr. Allan H. Bruckheim. Copyright (c) 1991-93, 1994 by Allan H. Bruckheim, M.D.
The Patient Education Illustrations reprinted with permission from Resident and Staff Physician. Copyright (c) 1991-93, 1994 by Romaine Pierson Publishers, Inc. All rights reserved.
The Anatomy of the Human Body illustrations were designed and developed by Collin Bremner and Bill Fiesterman. Audio recording courtesy of Alyssa Bremner. Copyright (c) 1992-93, 1994 by Creative Multimedia Corporation. Video licensed courtesy of "The Living Body Series", from the Altschul Group Corporation. Copyright (c) 1993, 1994 by Creative Multimedia Corporation.
Audio for Basic First Aid, the Introduction to the Anatomy of the Human Body and the video of the Anatomy of the Human Body was recorded by Richard Moore, Northwest VideoWorks, Inc. 1631 SW Columbia, Portland, OR 97201.
Interface Design developed by Collin Bremner and Andrew Davies. Copyright (c) 1992-93, 1994 Creative Multimedia Corporation.
Copyright (c) 1991-93, 1994 Creative Multimedia Corporation. QuickTime for Windows(TM), Copyright (c) 1992, Apple Computer, Inc. ToolBook(R) 1.53, Copyright 1992, Asymetrix(R) Corporation. A portion of this product was developed using MacroMind Director, version 3.1, copyright (c) 1992, Macromedia(TM), Inc. Other words, images and sounds copyright of respective owners. Windows is a registered trademark of MicroSoft Corporation. All rights reserved. Made in U.S.A.....tion. All rights reserved. Made in U.S.A.Made in U.S.A...
The Family Doctor, 3rd Edition Credits and Copyright
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0002700.tid
pageTitle
Cholesterol
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Cholesterol
Good and Bad Cholesterol
Cholesterol is a white, waxy substance your body needs to form cell membranes and many hormones. Enough cholesterol is produced by the body to meet all its needs. Eating foods rich in cholesterol and saturated fat can cause high levels of cholesterol to accumulate in the blood.
Cholesterol is transported in the blood by lipoproteins. Most of the cholesterol is carried by low-density lipoprotein (LDL). This is sometimes called the "bad" cholesterol because together with fat and other particles, it can cause a thick coating of plaque to form on the walls of the arteries. This condition, known as atherosclerosis, is a major health risk.
High-density lipoprotein (HDL) is often called the "good" cholesterol because it transports the cholesterol back to the liver, where it is processed for removal through the bile.
High and Low Levels
Cholesterol is measured by the number of milligrams (mg) of cholesterol per deciliter (dl) of blood. The numbers will fall into one of three ranges, as designated by the U.S. Department of Health and Human Services and listed on the front of this chart. If your total blood cholesterol level is high, your doctor will probably want to obtain a measurement of your LDL levels. LDL levels greater than 130 mg/dl are considered a health risk.
Cholesterol testing involves taking a sample of blood either from your finger or arm and should be done by a health professional in a hygienic medical setting. The sample should then be sent to a competent and experienced laboratory for analysis.
How to Lower Cholesterol
If you have high blood cholesterol, your doctor will advise you to change your diet so that you eat fewer foods that are high in cholesterol and saturated fats. Cholesterol is found only in animal products. Animal products are also the primary source of saturated fats, although a few vegetable oils--coconut, palm, and palm kernel--do contain saturated fats.
It is generally recommended that you consume no more than 300 mg of cholesterol each day and that no more than 30% of your total calories come from fats, with no more than one-third of that (10% of total calories) coming from saturated fats.
If dietary changes do not lower cholesterol sufficiently, your doctor may prescribe medication. Maintaining a desirable weight can also help lower LDL and exercise may help raise the level of HDL, the "good" cholesterol.
Cholesterol and Saturated Fat Levels of Some Common Foods
A colonoscope is a slender and flexible tube that can be used to examine the entire colon. The procedure, known as a colonoscopy, is not a routine examination, but may be recommended by your doctor to determine a source of bleeding or to diagnose polyps, cancer, and other conditions.
Colonoscopy is particularly useful in diagnosing disease that is beyond the reach of a proctosigmoidoscope. A proctosigmoidoscope is shorter and more rigid and is used to examine the rectum and lower colon only. It can help find colon and rectal cancers early, and it is recommended that men and women over the age of 50 have a "procto" every one to five years, depending on the individual and the test results. If the results are not normal, your physician may recommend more extensive tests, including colonoscopy.
Why is Colonoscopy Useful?
The development of an instrument that can be used to view the entire colon has greatly improved the diagnosis and treatment of polyps, small projecting growths. Polyps, even tiny ones, can be located much more easily than with other methods. A wire loop can be passed through the scope and hooked around the base of a polyp. A current is applied and polyp is nipped off.
Colonoscopy is also useful in determining the cause of bleeding, either bleeding from the rectum or hidden (also known as "occult") bleeding that has been detected by a stool blood slide test. The bleeding can be stopped with an electrical current, a heat probe, or a laser passed through the colonoscope.
If other tests, such as the "procto" and stool blood slide test (mentioned above) or the barium enema, indicate problems may be present, colonoscopy may be used to look for other signs of bowel disease and possible cancerous growths. If an unusual growth is noted, the physician can take a sample of cells for later examination under a microscope, a procedure known as a biopsy. If cancer is diagnosed, colonoscopy can be used before surgery to determine the extent of the disease, and as a follow-up procedure to see if the growths in the colon have been completely removed and later, if they return.
The Examination
Your doctor may advise you to follow a liquid diet the day before the test and to not consume anything after midnight. Your doctor may also want you to have an enema the morning of the procedure. This will cleanse the bowel and permit better viewing of the walls of the colon. You may receive a mild sedative to relax you prior to the examination. For the examination, you lie on your left side, with a sheet draped over your lower body. Your doctor will gently insert the scope through the anus and rectum and into the colon. You may feel cramps, but these can be relieved by your doctor manipulating the scope and, if needed, by additional medication.
Colonoscopy
0003100.tid
pageTitle
Cataracts
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Cataracts
A cataract is a clouding of the lens of the eye which blocks light from entering the eyeball, causing blurred vision. You could compare it to a camera--when something blocks the light from the lens, you get a blurred picture.
Cataracts are most common in elderly people although they can occur at any age. The cause is unknown and there are no drugs to treat the condition. When the cataract reaches the point that it interferes with normal activities, it should be removed surgically if the patient is in generally good health. The operation is not serious and the success rate is very high. There are several accepted methods of removal: - Extraction (most common)--The eyeball is opened and the diseased lens is lifted out with a freezing probe. - Needling--This method is usually used in children. The lens is opened and fluid from the eyeball enters the lens and dissolves the cataract. - Phaco-emulsification--A high-speed instrument is inserted into the lens through a small incision that breaks up the cataract and draws it out. Use of the smaller incision in this method makes healing time faster and hospital stay considerably shorter. This method has been mistakenly referred to by the mass media as the "Laser Method." In reality lasers are not used, but rather an ultrasonic beam. It is used in younger patients.
After the operation, normal vision is restored with the use of specially ground eyeglasses, contact lenses, or occasionally implanted lenses in older patients who cannot handle a contact lens.
Cataracts
0003400.tid
pageTitle
Facts About Fat
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Facts About Fat
If you have a weight problem--controlled or uncontrolled--you are not alone. There are about 15 million Americans who are at least 20% overweight, and that's borderline obesity. The more your weight goes up, the more problems you'll encounter in maintaining health and achieving longevity. "The longer the waistline, the shorter the lifeline" is an all too familiar adage. But sadly, it doesn't really sink in for many people until the insidious growth of girth creates a crisis. This chart shows what happens inside your body as you progress from being slightly overweight to being obese. We're not stressing the cosmetic disabilities caused by excess weight--or the psychological problems. We are presenting the gut problem.
Shortness of breath may be a first sign of pulmonary distress and heart strain caused by overweight. The chart shows you how and why obesity increases the heart's workload and contributes to premature death: fat enlarges the capillary bed (tiny connective blood vessels in an area or organ of your body) which increases the amount of tissue to be nourished by the blood and through which the blood must be pumped by your heart.
In addition, the fat accumulated has to go someplace. You can see what's happening on the outside of you--now let's take a look at the inside. Fat infiltrates the liver and other organs. It's a squeeze process, an invasion. Fat compresses the heart, decreases the blood supply to the intestines, etc. (See figures above.) Some very fat people can't sit, because if they do, there's no space for their lungs to operate in, as the fat invades the chest. These people have to stand up or lie down all the time. They have disabled themselves. Along with all this, extra heavy people--and even moderately overweight persons--are putting an extra burden on their backs and legs (the weight bearing joints), which causes or increases arthritic problems.
Complications following surgery occur more frequently in fat people vs. thin. Wounds don't heal as well or as fast. And again a breathing problem--heavyweights can't take anesthesia as well as people of normal weight.
The final point to remember is that weight will always be with you--as long as you're alive. To control your weight, you have to control the number of calories you eat. Your doctor knows you inside and out better than any far-removed author of reducing plans that please the palate. Your doctor will prescribe a highly individualized diet--just for you--to help you beat the battle of the bulge, which this chart should show you goes on inside as well as out.
Facts About Fat
0003500.tid
pageTitle
Fractures
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Fractures
A fracture is a break in a bone, and may occur in any bone including the skull. Fractures are usually caused by traumatic injuries but they may also occur without injury in bone that has been weakened by disease. The various kinds of fractures have the following designations:
- Complete--The bone is broken all the way across.
- Incomplete--The break goes only partly through the bone; they occur very rarely and almost always in children (see greenstick fracture).
- Greenstick--An incomplete fracture in which one side of the bone is broken and the other side is bent. This fracture most often occurs in the bones of young children which, like green sticks, are quite flexible.
- Buckle--An incomplete fracture in which the bone is compressed or buckled. Like the greenstick, this fracture usually occurs only in the pliable bones of children.
- Simple or closed--The skin surrounding the fracture has not been injured.
- Compound or open--Bone fragments have pierced the skin resulting in an open wound.
- Comminuted--The bone is fractured into more than two pieces.
- Pathologic--A fracture which occurs from a mild stress in an area of bone that has been weakened by disease.
As people age, their bones lose mineral substance and become more fragile. Because of this weakening, fractures may occur more easily in the bones of older people.
The treatment of fractures will vary greatly depending upon the age of the patient, which bone is fractured, and the severity of the injury. Some fractures may require no treatment. Some require only an external plaster cast. More serious fractures may require that the bones be pulled into alignment and held with traction, and some may require direct repair with metal pins, nails, screws, or plates. In extreme cases, a portion of the bone may have to be replaced with an artificial section made out of plastic or metal.
Fractures
0005200.tid
pageTitle
Lyme Disease
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Lyme Disease
Starts with a Tick Bite
Lyme disease is transmitted by ticks that feed on deer and small rodents, such as field mice. The ticks can also attach themselves to humans and pierce the skin for a blood meal. As the ticks feed, they infect humans with spirochetes (spiral bacteria) that spread outwardly, causing the red, circular, and expanding rash characteristic of many but not all cases of early Lyme disease.
Widespread in the U.S.
Lyme disease is so named because the term was first used to refer to an arthritic condition affecting children in Old Lyme, Connecticut. It was later learned that the arthritis was a complication of a tick bite and that the disease was not limited to that region. Lyme disease has now been diagnosed in the Northeast (Massachusetts to New Jersey) and upper Midwest (Wisconsin and Minnesota), where it is primarily caused by the tick known as Ixodes dammini, and on the Pacific Coast (California and Oregon), where it is transmitted by Ixodes pacificus. (See illustrations on front of chart.) Lyme disease usually occurs between April and October, with most cases originating in June and July. Although 1,500 cases are reported in this country each year, the true Lyme disease rate is probably four to five times higher.
Red Rash and Other Signs
The ticks are very small, only about the size of a poppy seed, and the bites often go unnoticed. Even when fully engorged with human blood, ticks are difficult to see. If you do notice a tick on your body, remove it by grasping it firmly with tweezers. Kill it by dousing in alcohol or bleach, and save the specimen to show to your doctor. If you cannot remove the tick or only get part of it out, see your doctor.
The characteristic rash usually appears within 3 to 32 days of the tick bite, although 20% to 40% of infected individuals may never develop the rash. If you do develop the initial rash, you may later have smaller rashes elsewhere. As the spirochetes spread throughout the body, they may cause fever, flu-like symptoms, headaches, swollen lymph glands, and fatigue.
If the heart becomes affected, you may experience dizziness, weakness, and irregular heart beats. If the spirochetes invade the nervous system, you may have trouble with concentration and muscle coordination. You may also develop Bell's Palsy (facial paralysis) on one or both sides of the face or similar conditions involving the nerves. Joints may become swollen and painful; the knee being the most frequently affected. If the disease is left untreated, chronic arthritis may develop.
Pregnant women should be particularly watchful for tick bites and evidence of Lyme disease, since the disease could be transmitted to the fetus. In the vast majority of cases, however, pregnancies among women with Lyme disease have normal outcomes.
Controlling Lyme Disease
Oral antibiotics are usually effective in treating Lyme disease and preventing the long-term complications. The specific drug and how it is to be administered will vary according to individual and the extent of the disease. For example, although oral tetracycline is recommended for most adults, penicillin is usually advised for pregnant women and young children. You will need to make follow-up appointments with your doctor so your recovery can be checked.
Most importantly, try to prevent Lyme disease by avoiding exposure to ticks. In wooded areas, and especially during the summer months, use tick repellant containing the chemical DEET. Wear a hat, long sleeves and pants, and tuck pant legs into socks or secure them around your ankles with a rubber band. Wearing light colors will make it easier to see ticks on your clothing.
Lyme Diseaseto a
0005400.tid
pageTitle
Myocardial Infarction
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Myocardial Infarction-I
What is a Myocardial Infarction? The word infarct means an area of tissue necrosis (death) due to significant interference with blood flow, nearly always the result of occlusion (blockage) of the supplying artery.
Myocardium is the name for the muscular tissue of the heart. It is the contraction (systole) and relaxation (diastole) of the myocardium that comprises the heart beat.
Thus a myocardial infarction means the death of a portion of the muscle tissue of the heart.
If the blood supply is blocked in a large vessel, a large area of muscle can be affected (a so-called "massive heart attack"). If a small artery is blocked, the area affected will be small, and thus the attack will be a minor "heart attack." (The arterial system of the heart is illustrated below.)
Blockage of the artery usually is due to arteriosclerosis (narrowing of the vessel by the buildup of plaque--see inset). This is similar to the narrowing of a water pipe from mineral deposits. The narrowing is not, however, uniform throughout the artery.
See the following page for the areas of infarction produced by blockage of various arteries.
Myocardial Infarction
007400.tid
pageTitle
Tonsillitis
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Tonsillitis
What Are Tonsils?
Tonsils are gland-like structures that are located along the sides and back of the throat. They are made up of lymph tissue and are covered by mucous membranes.
There are three types of tonsils. The pharyngeal tonsils (also known as adenoids, particularly when they are swollen), are embedded in the upper back wall of the mouth, behind the nose. The lingual tonsil is located in the back of the mouth, near where the tongue is anchored. The paired palatine tonsils are on either side of the tongue, under the arches of the mouth. Tonsillitis generally refers to inflammation of the palatine tonsils.
One of the functions of the lymphatic system is to develop immune responses to ward off infection and disease. As part of that system, the palatine tonsils filter out and defend the body against disease-causing organisms entering through the nose and mouth. Being on the first line of defense, however, means that the tonsils are continually exposed to these harmful organisms. If the tonsils become infected, tonsillitis results. Most cases of tonsillitis occur in children under eight years old, although some adults continue to develop tonsillitis.
Symptoms of Tonsillitis
Infection causes the tonsils to become inflamed and bright red. Other signs of tonsillitis are sore throat, difficulty in swallowing, and sometimes pain extending up to the ear. Tonsillitis may also cause fever, headaches, and vomiting.
Determining the Cause
Your doctor will examine your throat and, if the tonsils appear inflamed, do a throat culture to determine the cause of the problem. Other members of your household should also have throat cultures and receive any necessary treatment to avoid passing the illness back and forth.
If a virus caused the tonsillitis, treatment will include an analgesic and rest. If the streptococcus bacteria is the cause, penicillin is usually given for ten days. The throat culture may later be repeated to see if the treatment was effective.
Must the Tonsils Be Removed?
Years ago, the tonsils were often surgically removed even if only minor infections occurred, or sometimes even before any problems had arisen. Nowadays, surgery is performed only if tonsillitis occurs several times a year, or if the condition continues and the tonsils become so enlarged that swallowing and breathing become increasingly difficult.
Children undergoing the procedure, known as tonsillectomy, receive general anesthesia. Following the operation, the child will still have a sore throat and difficulty in swallowing. Both conditions should clear up in a week or so. A possible postoperative complication is bleeding and spitting up of blood. This should receive prompt medical attention. An adult can have a tonsillectomy with only a local anesthesia. The operation may cause more postoperative pain for adults and require longer hospitalization and recovery time than it does for children.
Tonsillitis
0008600.tid
pageTitle
Hysterectomy
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Hysterectomy
Hysterectomy means the removal of the uterus. The ovaries and fallopian tubes may be removed at the time a hysterectomy is performed, but this is not always the case. If one or both of the ovaries are left in place, the change of life will not necessarily follow the operation. Menstruation, however, will cease with the removal of the uterus.
The operation is usually performed through a four to six inch incision in the lower abdomen. In some cases, however, the uterus can be removed through the vagina. The surgery itself takes about an hour or two to perform, and is generally done under spinal or general anesthesia. Most patients can get out of bed the day after surgery and can leave the hospital in about five to ten days.
The hysterectomy will have no effect on the patient's sexual urges or activity, and she may resume sexual relations in six weeks. She can resume all of her normal activities in about ten weeks.
Hysterectomy to
0009200.tid
pageTitle
Anemia
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Anemia
Common Signs and Symptoms of Anemia
Feeling tired and "run-down" may be the only signs of anemia, although some people may become pale and short of breath. In more serious cases, anemia may also cause headaches, ringing of the ears, dizziness, drowsiness, and irritability.
What Causes Anemia?
Anemia is the shortage of red blood cells or of hemoglobin, the part of the blood that gives those cells their color and carries oxygen to other cells. There are three major causes: - Blood Does Not Form Properly. The most common reason for this and the most common cause of anemia is an insufficient amount of iron. Iron deficiency anemia could be caused by not eating enough iron-rich foods or by the body's failure to absorb and use iron correctly. Other diet-related causes of anemia include deficiencies in vitamins B12 and C. Other reasons the blood may not form properly are disorders of the bone marrow, where red blood cells are made, and of the kidneys, which produce the hormone that stimulates formation of red blood cells. - Blood Loss. A shortage of red blood cells can occur as a result of long-term, but steady (chronic) bleeding from ulcers or hemorrhoids, or from short-term, but heavy (acute) bleeding from serious injury. - Blood Cell Destruction. Certain conditions cause red blood cells to be destroyed faster than they can be replaced. The spleen normally disposes of worn-out blood cells, but when it is damaged and enlarged, it may remove these cells too soon. Disorders of the immune system, infections, and weakness of the cell's outer layer or membrane, can also cause premature blood cell destruction. Two inherited types of anemia give rise to abnormal hemoglobin and fragile red blood cells. Persons with Cooley's anemia, also known as thalassemia major, cannot manufacture enough hemoglobin, and the red blood cells are almost empty. The disease is most common among people of Mediterranean, Middle Eastern, or Asian descent. In sickle cell anemia, the hemoglobin, once it releases its oxygen, tends to clump together and causes the red blood cells to take on a sickle or crescent shape. These cells can cause pain as they try to squeeze through small blood vessels. In the U.S., sickle cell anemia occurs most commonly, but not exclusively, among blacks.
Diagnosis and Treatment
If anemia is suspected, your doctor will run one or more series of blood tests to measure the volume of red blood cells and hemoglobin and to check for changes specific for different types of anemia. Your doctor will also try to determine the source of possible internal bleeding or rule it out as a cause.
Iron deficiency anemia can be cured by eating iron-rich foods, such as beef, liver, chicken, spinach, eggs, cheese, and milk. Iron supplements should only be taken under a doctor's guidance, since excess iron can harm the heart and liver. Deficiencies in vitamin B12 may be corrected by eating more meats, peas, and beans. Citrus fruits are especially high in vitamin C. Many of the foods that can correct dietary deficiencies are high in fat and cholesterol, so check with your doctor before altering your diet, and choose wisely.
Both Cooley's anemia and sickle cell anemia are incurable, but treatable. Patients with Cooley's anemia receive regular blood transfusions and a drug to remove the excess iron that remains behind as the transfused cells are broken down over their natural lifespans. Treatment for sickle cell anemia primarily involves pain killers, with blood transfusions reserved for more serious cases. Younger children are likely to develop infections that could be life-threatening and so receive preventive doses of penicillin. Current research promises to find ways of treating the red blood cells directly.
Anemiad th
0009700.tid
pageTitle
Cirrhosis of the Liver
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Cirrhosis of the Liver
The Indispensable Liver
The liver is the body's largest organ and has many vital functions involving the use of food for energy. These include the production of bile to help digest fat, of proteins for cell growth and repair, and of enzymes needed to trigger internal reactions. Serving as the body's "detoxification" center, the liver bears the brunt of harmful chemicals, drugs, and alcohol. Even a few days of heavy drinking can cause a buildup of fat and water, a reversible condition known as fatty liver. Although the liver can repair limited damage from abuse and injury, continued assaults on the liver cause the formation of scar tissue.
The Causes of Cirrhosis of the Liver
More than 27,000 Americans die from cirrhosis of the liver each year. It is this country's third leading cause of death among those aged 25 to 59. Most, but by no means all, cases of cirrhosis are caused by alcohol abuse. Even so, most alcoholics do not develop cirrhosis, and cirrhosis can occur in people who are only moderate drinkers and among young children who have never had an alcoholic drink. These children usually lack a properly functioning duct to transport bile from the liver to the digestive tract.
Bile duct obstruction can also lead to cirrhosis among adults. Other causes include exposure to potent insecticides and chemicals in the workplace, reactions to medications and other drugs, some forms of viral hepatitis and other diseases, and the inability of the body to properly process iron, copper, or sugar.
Signs and Symptoms
In most cases, there are no early signs of cirrhosis, and the disease may go undetected until it is in the advanced stages or is diagnosed in the course of treating another illness. As the disease establishes itself, some patients may experience weakness, fatigue, loss of appetite, nausea and vomiting, and weight loss. Later symptoms may include abdominal pain and distension due to fluid build-up, itching, a foul-smelling "liver breath," jaundice or yellowing of the skin and whites of the eyes as the liver is unable to remove bile pigments, vomiting of blood, loss of hair, and nervous system disorders that could possibly lead to coma.
Blood and urine samples may indicate liver function problems, but these tests can also produce normal results when cirrhosis is present. Liver scans may show abnormal uptake of test materials. The most useful tool for definitively establishing a diagnosis of cirrhosis and determining stage of disease is a needle biopsy. In this procedure, a slender needle is inserted into the liver and a tissue sample withdrawn for inspection under a microscope.
The Treatment of Cirrhosis of the Liver
If cirrhosis is determined to be caused by alcohol or another identifiable substance, the patient will of course be advised to avoid the cause. Those with alcoholic cirrhosis may also be advised to follow a healthy diet. Although viral hepatitis is not curable, experimental drugs may be prescribed to enhance the body's immune system and control the disease. Distension may be controlled by restricting salt intake and taking diuretics to help rid the body of excess water. Patients with cirrhosis are often less able to fight infection and more likely to suffer kidney problems, stomach ulcers, gallstones, a form of diabetes, and liver cancer.
A drug used to treat gout is showing promise in improving survival rates of patients with cirrhosis. In controlled studies, patients receiving the drug, colchicine, had five-year survival rates of 75%, compared to 34% in the untreated group. After ten years, the rates were 56% and 20%.
Cirrhosis of the Liverways
0015300.tid
pageTitle
Otitis Externa
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Otitis Externa
Water Gets Trapped in the Ear
Otitis externa is brought on by too much moisture in the external auditory canal. This passageway leading from the outer ear opening to the eardrum is approximately one inch long. The lingering moisture softens and wears away the skin lining the outer ear canal, making it more susceptible to infection, usually by bacteria and occasionally by a fungus.
Often the excess moisture is the result of water entering the ear during diving or swimming, giving the condition its common name of "swimmer's ear." Otitis externa can also be caused by hair spray or hair dye, or by aggressive cleaning of the ear with a cotton swab. Dead cells from the skin lining the ear are naturally edged outward, taking with them other accumulated debris, but inserting a cotton swab pushes these substances back into the ear. The debris and cerumen (commonly called earwax) can trap water or other sources of moisture in the canal.
Otitis externa can also be caused by a furuncle, a boil resulting from an abscess of a hair follicle in the ear. If you have allergies or skin conditions, such as eczema or psoriasis, you may be more likely to develop otitis externa.
Signs and Symptoms
Symptoms of otitis externa include itching, burning, and pain. Furuncles can be particularly painful. The skin lining the external auditory canal may appear red and swollen and the canal may become filled with pus, causing a bad-smelling discharge and temporary loss of hearing.
Ear Drops and Analgesics
Because of the possibility of pushing the pus and debris farther into the ear, removal of accumulated material should be left to your doctor, who may remove it with irrigation, suction, or dry wipes. Ear drops may then be instilled. These drops may be an acetic acid and water solution (acetic acid is the principal acid in vinegar) or a combination of cortisone-like drugs to reduce the swelling and antibiotics to destroy the bacteria. Codeine or other analgesics may be needed for pain relief. Oral antibiotics may be needed, especially if there is spreading cellulitis, a bacterial infection that can penetrate deep into the skin and have more widespread effects on other parts of the body.
Due to the severe pain associated with furuncles, analgesics are almost always prescribed. Furuncles should be allowed to drain naturally and while draining will discharge a bloody pus. They should not be pierced to produce drainage, since this could cause a spreading inflammation. Applying drops is not effective for furuncles.
Otitis Externa hel
0016300.tid
pageTitle
Appendicitis
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
Appendicitis
Appendicitis begins when the appendix becomes blocked or kinked. The obstruction may be followed by bacterial infection. Typically, the first symptom of appendicitis is pain around the navel. Loss of appetite, nausea, and vomiting may follow. After several hours, the pain usually shifts to the lower right abdomen; but because the appendix moves around quite a bit within the abdomen, the pain may be anywhere. The point of extreme tenderness, which usually marks the approximate location of the base of the appendix, is called McBurney's point.
If the infected appendix is not removed surgically, it may burst, spreading the infection throughout the abdominal cavity. If the appendix does burst and is left untreated, peritonitis (which is an inflammation of the lining of the abdomen) may result with or without formation of an abscess (a collection of pus). This is a serious complication which may lead to death.
An appendectomy (the surgical removal of the appendix) is a common, safe operation with almost uniformly good results. The average case--if caught before the appendix ruptures--requires a hospital stay of only about a week.
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Human Anatomy
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--Save incase we need
resurect
--Play associated audio on
4wavPath,
--
waveFile
--
tbkMCIchk("play" &&
!,"")
--
~(" ",
fname
& ".
--
io on
4idxPath, aDlgView, aDlgCategory, cdRomDrive
~(" ",
& ".wav"
--Construct
Display dialog box
the PeelAway Man
displayDialog(
4 --hour glass comes up
(so let's force
key,
ontrol
isControl
4lastDir
menus
"Print Article"
"Character"
"Copy"
"SelectAll"
dependentMenus()
4midVisM, maxVisM
= "msb"
Check
state
radio buttons
change
needed.
FALSE
= "mgb"
--
"muscle"
--
Enter
rightButtonDown
keydown
buttonUp
keyup
enterBackground
mouseEnter
enterPage
mouseEnter
navIn
navOut
Sound
actViewName
actInName
actOutName
actAudName
buttonUp
actInName
actOutName
isCtrl
isShift
location
rightButtonDown
Sound
active,checked
tbkMCIchk
tbkMCIchk
displayDialog
fname
waveFile
idxPath
aDlgView
aDlgCategory
cdRomDrive
wavPath
actViewName
actAudName
keydown
previous
actOutName
isControl
isShift
keyup
actInName
isControl
isShift
enterBackground
Print Article
Character
SelectAll
dependentMenus
lastDir
enterPage
muscle
midVisM
maxVisM
firstaid
--Processes DiscPassage
files
processFileList()
--This function will
O listed
4 gmemHeader, gmemTitle, gmemUnique, gmemLog
4 lpHeader, lpTitle, lpUnique, lpLog
("Insert
fileList
--allocate Text buffers,
routine fails
completely
textBuffers()
"no such
--Copy
additional materials
clipboard
/"textSkeleton"
"logField"
--loop through
readInFileNames(
fname
addTextPage(
dpTextFile(
--cleanUp
ourselves
freeTextBuffers()
--convert ref.
names
pageToPageIds()
template
"textTemplate"
"AOK"
--addTextpage()
need
H"ReadDPText" DLL
) - 8)
retrieve a
section
its two parts,
body.
-- Put
article
(non BRS content)
= "ERROR"
"dir"
xNULL
-- Paste
docType
title
-- Set
property used
feature
creation
mapfile
pageTitle
q seen
-- Use toolbook
overflow
modify
necessary
O- 2)
"..."
begin
processing
Zeat reaches
linkDLL "c:\dlls\
STRING
,POINTER,
global memory
brsHeader, brsTitle, brsUnique, brsLog
tbkGlobalAlloc(0,6000)
tbkGlobalLock(
= -1
= -1
tbkGlobalFree(
"Error: can
HEADER
globalLock(
= -1
= -1
ITLE
tbkglobalAlloc(0,30)
= -1
= -1
UNIQUE
2450)
= -1
= -1
le,
allocated
unlinkDLL "
.dll"
--Get
/"hierarchical Menus"
menuPages
Start stepping
--
-- Show status on screen
convertToIds(
--Convert
references
Find length
dirLen
"TXT"
--
-- Replace
buttonUp
dpTextFile
processFileList
readInFileNames
textBuffers
freeTextBuffers
addTextPage
pageToPageIds
convertToIds
buttonUp
processFileList
processFileList
Insert name of the File List
cancel
author
textBuffers
no such file
textSkeleton
logField
readInFileNames
addTextPage
dpTextFile
freeTextBuffers
pageToPageIds
textTemplate
fname
fileList
lpHeader
lpTitle
lpUnique
lpLog
gmemHeader
gmemTitle
gmemUnique
gmemLog
addTextPage
textSkeleton
y5newPage
fname
dpTextFile
ReadDPText
ERROR
ERROR
paste
pageTitle
pageTitle
pageTitle
pageTitle
pageTitle
pageTitle
overflow
title
docType
lpHeader
lpTitle
lpUnique
lpLog
fname
readInFileNames
fname
textBuffers
c:\dlls\text.dll
ReadDPText
tbkGlobalAlloc
tbkGlobalLock
tbkGlobalFree
Error: can not allocate HEADER buffer
tbkGlobalAlloc
globalLock
tbkGlobalFree
tbkGlobalFree
Error: can not allocate TITLE buffer
tbkglobalAlloc
globalLock
tbkGlobalFree
tbkGlobalFree
tbkGlobalFree
Error: can not allocate UNIQUE buffer
globalAlloc
globalLock
tbkGlobalFree
tbkGlobalFree
tbkGlobalFree
tbkGlobalFree
Error: can not allocate LOG buffer
lpHeader
lpTitle
lpUnique
lpLog
gmemHeader
gmemTitle
gmemUnique
gmemLog
freeTextBuffers
tbkGlobalFree
tbkGlobalFree
tbkGlobalFree
tbkGlobalFree
text.dll
gmemHeader
gmemTitle
gmemUnique
gmemLog
pageToPageIds
hierarchical Menus
hierarchical Menus
convertToIds
menuPages
convertToIds
dirLen
menuPage
FirstAid
playPage
buttonUp
buttonUp
cplayPage
nextPage
buttonUp
buttonUp
jnextPage
prevPage
buttonUp
buttonUp
iprevPage
Title
Subtitle
exitFirstAid
buttonUp
buttonUp
N%exitFirstAid
4hQTW,moviePath
B"*MovieStart"
--Get coordinates
x,y,width,height
wRect
clientFromPage(
,sysMagnification, \
"*MovieRect"
-- caculate the difference
vs Bruk's
180w X 130h
xdif
(x2-x1-180)
ydif
(y2-y1-130)
tbkQTWOpenAsChildWindow(
& "musskel.mov",
, sysClientHandle, x1+
}/2, y1+
q/2, 0, 0)
<1, y1, x2, y2)
tbkQTWShow(
laying
tbkQTWClose(
moviePlaying
tbkQTWMovieDone hqtwMovie
tbkQTWPause(
tbkQTWSeek(
terPage
leavePage
enterPage
tbkQTWMovieDone
enterPage
*MovieStart
*MovieRect
clientFromPage
musskel.mov
tbkQTWOpenAsChildWindow
musskel.mov
tbkQTWOpenAsChildWindow
tbkQTWShow
wRect
moviePath
leavePage
tbkQTWClose
moviePlaying
tbkQTWMovieDone
tbkQTWPause
tbkQTWSeek
*MovieStart
moviePlaying
hqtwMovie
FirstAid1
"Text1"
"Text2"
"Text3"
enterPage
leavePage
enterPage
leavePage
Text1
Text2
Text3
Text1
Text2
Text3
4hQTW,moviePath
B"*MovieStart"
--Get coordinates
x,y,width,height
wRect
clientFromPage(
,sysMagnification, \
"*MovieRect"
-- caculate the difference
vs Bruk's
180w X 130h
xdif
(x2-x1-180)
ydif
(y2-y1-130)
tbkQTWOpenAsChildWindow(
& "digestiv.mov",
, sysClientHandle, x1+
~/2, y1+
r/2, 0, 0)
<1, y1, x2, y2)
tbkQTWShow(
laying
tbkQTWClose(
moviePlaying
tbkQTWMovieDone hqtwMovie
tbkQTWPause(
tbkQTWSeek(
terPage
leavePage
enterPage
tbkQTWMovieDone
enterPage
*MovieStart
*MovieRect
clientFromPage
digestiv.mov
tbkQTWOpenAsChildWindow
digestiv.mov
tbkQTWOpenAsChildWindow
tbkQTWShow
wRect
moviePath
leavePage
tbkQTWClose
moviePlaying
tbkQTWMovieDone
tbkQTWPause
tbkQTWSeek
*MovieStart
moviePlaying
hqtwMovie
4actViewName, actInName, actOutName, actAudName
objectFromPoint(
x"*"
"view"
navIn
navOut
Sound
xNULL
down
}location, isShift, isCtrl
False
TRUE
--Save incase we need
resurect
--Play associated audio on
4wavPath,
--
waveFile
--
tbkMCIchk("play" &&
!,"")
--
~(" ",
fname
& ".
--
io on
4idxPath, aDlgView, aDlgCategory, cdRomDrive
~(" ",
& ".wav"
--Construct
Display dialog box
the PeelAway Man
displayDialog(
4 --hour glass comes up
(so let's force
key,
ontrol
isControl
4lastDir
menus
"Print Article"
"Character"
"Copy"
"SelectAll"
dependentMenus()
4midVisR, maxVisR
= "rsb"
Check
state
radio buttons
change
needed.
FALSE
= "rgb"
--
"circ"
--
Enter
rightButtonDown
keydown
buttonUp
keyup
enterBackground
mouseEnter
enterPage
mouseEnter
navIn
navOut
Sound
actViewName
actInName
actOutName
actAudName
buttonUp
actInName
actOutName
isCtrl
isShift
location
rightButtonDown
Sound
active,checked
tbkMCIchk
tbkMCIchk
displayDialog
fname
waveFile
idxPath
aDlgView
aDlgCategory
cdRomDrive
wavPath
actViewName
actAudName
keydown
previous
actOutName
isControl
isShift
keyup
actInName
enterBackground
Print Article
Character
SelectAll
dependentMenus
lastDir
enterPage
midVisR
maxVisR
4actViewName, actInName, actOutName, actAudName
objectFromPoint(
x"*"
"view"
navIn
navOut
Sound
xNULL
down
}location, isShift, isCtrl
False
TRUE
--Save incase we need
resurect
--Play associated audio on
4wavPath,
--
waveFile
--
tbkMCIchk("play" &&
!,"")
--
~(" ",
fname
& ".
--
io on
4idxPath, aDlgView, aDlgCategory, cdRomDrive
~(" ",
& ".wav"
--Construct
Display dialog box
the PeelAway Man
displayDialog(
4 --hour glass comes up
(so let's force
key,
ontrol
isControl
4lastDir
menus
"Print Article"
"Character"
"Copy"
"SelectAll"
dependentMenus()
4maxVisD
= "dsb"
Check
state
radio buttons
change
needed.
FALSE
"dgb1f"
--
"digestive"
--
Enter
rightButtonDown
keydown
buttonUp
keyup
enterBackground
mouseEnter
enterPage
mouseEnter
navIn
navOut
Sound
actViewName
actInName
actOutName
actAudName
buttonUp
actInName
actOutName
isCtrl
isShift
location
rightButtonDown
Sound
active,checked
tbkMCIchk
tbkMCIchk
displayDialog
fname
waveFile
idxPath
aDlgView
aDlgCategory
cdRomDrive
wavPath
actViewName
actAudName
keydown
previous
actOutName
isControl
isShift
keyup
actInName
enterBackground
Print Article
Character
SelectAll
dependentMenus
lastDir
enterPage
dgb1f
digestive
maxVisD
reprodMovie
*MovieStart
4moviePlaying, hQTW
NULL
tbkQTWPlay(
"Stop"
-- stop
tbkQTWPause(
tbkQTWSeek(
s, 0)
buttonUp
buttonUp
tbkQTWPlay
tbkQTWPause
tbkQTWSeek
moviePlaying
:PHYSSIZE
*MovieRect
nervousMovie
*MovieStart
4moviePlaying, hQTW
NULL
tbkQTWPlay(
"Stop"
-- stop
tbkQTWPause(
tbkQTWSeek(
s, 0)
buttonUp
buttonUp
tbkQTWPlay
tbkQTWPause
tbkQTWSeek
moviePlaying
:PHYSSIZE
*MovieRect
4hQTW,moviePath
B"*MovieStart"
--Get coordinates
x,y,width,height
wRect
clientFromPage(
,sysMagnification, \
"*MovieRect"
-- caculate the difference
vs Bruk's
180w X 130h
xdif
(x2-x1-180)
ydif
(y2-y1-130)
tbkQTWOpenAsChildWindow(
& "cardpul.mov",
, sysClientHandle, x1+
}/2, y1+
q/2, 0, 0)
<1, y1, x2, y2)
tbkQTWShow(
laying
tbkQTWClose(
moviePlaying
tbkQTWMovieDone hqtwMovie
tbkQTWPause(
tbkQTWSeek(
terPage
leavePage
enterPage
tbkQTWMovieDone
enterPage
*MovieStart
*MovieRect
clientFromPage
cardpul.mov
tbkQTWOpenAsChildWindow
cardpul.mov
tbkQTWOpenAsChildWindow
tbkQTWShow
wRect
moviePath
leavePage
tbkQTWClose
moviePlaying
tbkQTWMovieDone
tbkQTWPause
tbkQTWSeek
*MovieStart
moviePlaying
hqtwMovie
4hQTW,moviePath
B"*MovieStart"
--Get coordinates
x,y,width,height
wRect
clientFromPage(
,sysMagnification, \
"*MovieRect"
-- caculate the difference
vs Bruk's
180w X 130h
xdif
(x2-x1-180)
ydif
(y2-y1-130)
tbkQTWOpenAsChildWindow(
& "reprod.mov",
, sysClientHandle, x1+
|/2, y1+
p/2, 0, 0)
<1, y1, x2, y2)
tbkQTWShow(
laying
tbkQTWClose(
moviePlaying
tbkQTWMovieDone hqtwMovie
tbkQTWPause(
tbkQTWSeek(
terPage
leavePage
enterPage
tbkQTWMovieDone
enterPage
*MovieStart
*MovieRect
clientFromPage
reprod.mov
tbkQTWOpenAsChildWindow
reprod.mov
tbkQTWOpenAsChildWindow
tbkQTWShow
wRect
moviePath
leavePage
tbkQTWClose
moviePlaying
tbkQTWMovieDone
tbkQTWPause
tbkQTWSeek
*MovieStart
moviePlaying
hqtwMovie
*flem
pageTitle
The Family Doctor, 3rd Edition Credits and Copyright
Credits and Copyright
_________________________
The Family Doctor Team:
Author & Editor: Allan H. Bruckheim, M.D., FAAFP
Development: David Bleckmann, Collin Bremner, Gene Ragan
Production: Mark Johnson, John Williamson, Theresa Inman,
Linda Wolffe, Kelly Clarke
Quality Assurance: Janise McMenamin
Executive Producer: Chen-Chi Yuan
Technical Writer: Steve Munger
Publisher: Judith D. Grillo
Executive Publisher: Eric Pozzo
Copyright Notice:
The video introduction in The Family Doctor was written and recorded by Dr. Allan H. Bruckheim who also serves as editor, author and advisor of the
CD-ROM title.
The Questions and Answers are based upon "The Family Doctor", a nationally syndicated copyrighted column by Tribune Media Services, Inc. Portions Copyright (c) 1991-1993, 1994 by Allan H. Bruckheim, M.D. and Tribune Media Services, Inc. All rights reserved.
The 900+ files of information on rare diseases used with permission from the National Organization for Rare Disorders, Inc., 100 Route 37, P.O. Box 8923, New Fairfield, CT. 06812-1783. Copyright (c) 1984-1993, 1994 by the National Organization for Rare Disorders, Inc.
The New Prescription Drug Reference Guide by the Editors of Consumer Guide (R) reprinted with permission from Publications International, Ltd. Copyright (c) 1993 by Publications International, Ltd. All rights reserved.
Basic First Aid animations developed by Dash Digital, 1631 SW Columbia, Portland, OR 97201. Copyright (c) 1993, 1994 by Creative Multimedia Corporation.
The Resources Section includes Associations & Foundations, Educational Resources and Support Groups and Health Update Booklets. These Resources were written, compiled and edited by Dr. Allan H. Bruckheim. Copyright (c) 1991-93, 1994 by Allan H. Bruckheim, M.D.
The Patient Education Illustrations reprinted with permission from Resident and Staff Physician. Copyright (c) 1991-93, 1994 by Romaine Pierson Publishers, Inc. All rights reserved.
The Anatomy of the Human Body illustrations were designed and developed by Collin Bremner and Bill Fiesterman. Audio recording courtesy of Alyssa Bremner. Copyright (c) 1992-93, 1994 by Creative Multimedia Corporation. Video licensed courtesy of "The Living Body Series", from the Altschul Group Corporation. Copyright (c) 1993, 1994 by Creative Multimedia Corporation.
Audio for Basic First Aid, the Introduction to the Anatomy of the Human Body and the video of the Anatomy of the Human Body was recorded by Richard Moore, Northwest VideoWorks, Inc. 1631 SW Columbia, Portland, OR 97201.
Interface Design developed by Collin Bremner and Andrew Davies. Copyright (c) 1992-93, 1994 Creative Multimedia Corporation.
Copyright (c) 1991-93, 1994 Creative Multimedia Corporation. QuickTime for Windows(TM), Copyright (c) 1992, Apple Computer, Inc. ToolBook(R) 1.53, Copyright 1992, Asymetrix(R) Corporation. A portion of this product was developed using MacroMind Director, version 3.1, copyright (c) 1992, Macromedia(TM), Inc. Other words, images and sounds copyright of respective owners. Windows is a registered trademark of MicroSoft Corporation. All rights reserved. Made in U.S.A.....
The Family Doctor, 3rd Edition Credits and Copyright
4wavPath
tbkMCIchk("play" &&
& "koskesi.
+","")
buttonDoubleClick
buttonDoubleClick
koskesi.wav
tbkMCIchk
wavPath
:PHYSSIZE
4firstaidFile,firstaidAlias,faImageFile,faPath
xNULL
-- Open QT slide
0 (which should be blank)
"TBKFAAlias"
tbkMCI("close " &
tbkMCIchk("
& ".mov style child
" & sysClientHandle & \
" alias " &
"", 1)
]seek " &
& "
0", "", 1)
-- Now
correct location
hWin
status " &
& "
","",1,1)
wRect
clientFromPage(
sysMagnification,
"SlideWindow"
--Break coordinates up
x,y,width,height
nWidth
nHeight
nthe
MoveWindow(
,x,y,
e" &
& " state
", "", 1) -- comment out
realize " &
& "
w", "", 1)
e" &
& "
", "")
"Text1"
"Text2"
"Text3"
enterPage
leavePage
enterPage
TBKFAAlias
close
tbkMCI
open
.mov style child parent
alias
tbkMCIchk
seek
to 0
tbkMCIchk
status
window handle
tbkMCIchk
SlideWindow
clientFromPage
MoveWindow
window
state show
tbkMCIchk
realize
normal
tbkMCIchk
nHeight
nWidth
wRect
firstaidFile
firstaidAlias
faImageFile
faPath
leavePage
window
state hide
tbkMCIchk
close
tbkMCIchk
Text1
Text2
Text3
firstaidAlias
faImageFile
4hQTW,moviePath
B"*MovieStart"
--Get coordinates
x,y,width,height
wRect
clientFromPage(
,sysMagnification, \
"*MovieRect"
-- caculate the difference
vs Bruk's
180w X 130h
xdif
(x2-x1-180)
ydif
(y2-y1-130)
tbkQTWOpenAsChildWindow(
& "nervous.mov",
, sysClientHandle, x1+
}/2, y1+
q/2, 0, 0)
<1, y1, x2, y2)
tbkQTWShow(
laying
tbkQTWClose(
moviePlaying
tbkQTWMovieDone hqtwMovie
tbkQTWPause(
tbkQTWSeek(
terPage
leavePage
enterPage
tbkQTWMovieDone
enterPage
*MovieStart
*MovieRect
clientFromPage
nervous.mov
tbkQTWOpenAsChildWindow
nervous.mov
tbkQTWOpenAsChildWindow
tbkQTWShow
wRect
moviePath
leavePage
tbkQTWClose
moviePlaying
tbkQTWMovieDone
tbkQTWPause
tbkQTWSeek
*MovieStart
moviePlaying
hqtwMovie
05016.TXT
pagetitle
First Aid Kit
Copyright (c) 1993 Creative Multimedia
First Aid Kit
_________________________
A First Aid Kit is intended to be used during minor emergencies, but if properly stocked, can help you to deal with serious emergencies until professional medical help arrives. Having the right supplies nearby during an emergency can make a big difference in your ability to promptly respond.
The Kit should be large enough for you to clearly see and find anything you need quickly. The location of the kit should always be the same so you can find it immediately, but out of the reach of young children. Keep it apart from other medicines and supplies, and check it frequently to be sure to replace used and expired supplies.
The basic contents of your home First Aid Kit should include:
Dressings:
Adhesive Bandages, assorted sizes
Adhesive Tape and Thin Adhesive Strips
Cotton-tipped Swabs
Elastic Bandages
Gauze Bandages, assorted rolled sizes
Sterile Absorbent Cotton
Sterile Gauze Pads, assorted sizes
Equipment:
Bulb Syringe
Eye Cup
Hot water bottle
Ice pack
Oral and Rectal Thermometers
Safety Pins
Scissors
Tweezers
Medications:
Acetaminophen
Antihistamine
Antiseptic Ointment
Aspirin
Calamine Lotion
Hydrogen Peroxide
Ibuprofen
Salt Tablets
Sterile Eye Wash
Syrup of Ipecac
Toothache Gel
Miscellaneous:
Bar of unscented soap
Disposable gloves
Tissues
Add any special items, for example, an allergy kit, that may be needed by you or your family.
In an emergency there are a number of everyday items around the home that can also be useful. Try to keep the following in mind, or keep a copy of this list with your First Aid Kit:
Diapers, Sanitary Napkins, Towels and Linens for use as a compress, for bandages, or padding a splint.
Blankets to keep the victim warm.
Magazines, Newspapers, Umbrella, Cane, Pillow, Broomstick to use as splints.
Door, Table Leaf to use as a stretcher.
Scarf, Handkerchief, Cloth Table Napkin to use as bandage or sling.
_______________
This Section has been prepared as a quick-reference, but should in no way substitute for the extensive and professional training you should receive to be fully prepared for an emergency. We recommend you contact your local hospital or American Red Cross for comprehensive First Aid training and certification.
First Aid Kit
4lastDir
"Save Article"
(DEEEMED NOT NECESSARY)
"Print
"Select All"
"Character"
"Copy"
"Paste" (N/N)
dependentMenus()
dependentButtons()
"statusfield"
--SearchStatus()
--This function initiates the
routines:
RetrieveHits(),
RetrieveMatches(), DisplayHits()
DisplayMatches().
4shandle
(i+1)
"SearchLineFlags"
DisplayResults("hitList", "hits",0)
$matchList", "cMatch",1)
--Clear hidden fields
keep old
results
being display
"searchLineFlags"
makes
call
, lastSuccess
"index" &
idxField
convertIdxLetter(
idxFile
"buttonSelect" &
tempbutton
tempName
searchTerm
FALSE
"boolean" &
x"boolean0"
CMCSearch(
x"ERROR"
starts
operations on
lines that follow.
NOTE:
2 could effect
succeeding
--'i' determines which
begSearchLine
tempSuccess
" & i
RetrieveBoolean(
retrieves
operator
searchLine1, searchLine2
tempname
<> ""
booleanOp
+ 1)
"Error
" --better error handling needs
be done
"Please
asure each
preceded
handles displaying
are determined
(parameter) passed
targetField, targetColumn, startLine
-- real cludgy
; & 0
tempColumn
"Hits0"
v & i
B(i+1)
sets up
fully qualified path
file
idxLetter
4cdRomDrive, idxPath
"Words"
& & "
"Subjects"
Q & "subjects.
"Titles"
& "titles.
"Index
a value
[W|S|T]" --bogus user
4 --bail
4, no damage
--Beginning
chandlers
--ShowBooleans()
selecting a
" Pop-up
; booleanName
Zmenulist
--setup
popup
popMenu
"AND," & \
"OR," & \
"NOT," & \
"OFF"
,sysMagnification, \
SetBooleans(
,"OR")
will
's choice
booleanField,
B"checkboolean"
--ShowIndexes()
-- Author indexes have been removed. Family Doctor doesn't
"Authors"
y indexName
--Setup
," & \
," & \
SetIndexes(
main purpose
yes,
should be
--It also
flag
types
-- changed.
indexField, indexOp
B"checkindex"
+ 1)
+ 1)
--End
--Beggining
interface
--fillCard()
--Fill
ftheir corresponding global values (taking advantage
Please make sure each active search line is preceded by a boolean operator
booleanOp
tempName
shandle
searchLine2
searchLine1
DisplayResults
cMatch
Hits0
tempColumn
startLine
targetColumn
targetField
convertIdxLetter
Words
words.idx
Subjects
subjects.idx
Titles
titles.idx
Index field needs a value of [W|S|T]
idxFile
cdRomDrive
idxPath
idxLetter
ShowBooleans
popMenu
SetBooleans
SetBooleans
SetBooleans
SetBooleans
menulist
booleanName
SetBooleans
checkboolean
boolean
tempName
booleanOp
booleanField
ShowIndexes
Words,
Subjects,
Titles
popMenu
Words
SetIndexes
Subjects
SetIndexes
Titles
SetIndexes
menulist
indexName
SetIndexes
checkindex
index
searchLineFlags
searchLineFlags
tempName
indexOp
indexField
fillCard
checkboolean
checkboolean
checkindex
checkindex
titleList
searchTemplet
searchTitles
chkbooln
chkindx
fsearchLine
fhitList
fmatchList
fillVar
checkboolean
checkindex
searchTemplet
searchTitles
chkbooln
chkindx
fsearchLine
fhitList
fmatchList
showStatusInfo
Select which source to search from
statusField
Search by Words, Subject, or Title
statusField
Set all entries to the same search type
statusField
Clear search entries and results
statusField
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pageTitle
Complete Blood Count
A Medical Times Patient Education Chart
(C) Romaine Pierson Publishers, Inc.
___________________________
What Can the Blood Tests Tell?
The tests done as part of a complete blood count (CBC) are useful in diagnosing some illnesses. The major ones are anemia (which is a shortage of red blood cells or of hemoglobin, the blood protein that carries oxygen) and leukemia (which is a type of cancer that causes abnormal increases in white blood cells). CBCs can also help track progress in treating diseases.
The blood sample is usually taken from a vein in the arm, but may be drawn from the foot, finger, or ear. Your doctor will use the blood test results along with the results of your physical exam to diagnose a disease or assess your health.
Test results will vary even in healthy people because of personal differences such as age and sex. The normal ranges given here are for adults. Although the measurement terms may be unfamiliar, they are used here so you can compare them with your own test results.
The Red Blood Cell Count
The number of red blood cells (RBCs) within the normal range varies from 3.6 to 5.4 million per cubic millimeter. The average for females is 4.5 million and for males 5 million. Too many RBCs might be a sign of lung disease or congestive heart failure, the inability of the heart to pump blood efficiently. Too few RBCs, a condition known as anemia, can be caused by bleeding, leukemia, kidney disease, hormone problems, and other chronic diseases. Radiation and drugs used to treat cancer and other conditions may damage the bone marrow, where RBCs are formed, and so prevent the formation of enough new RBCS.
Hemoglobin: The Oxygen Carrier
Hemoglobin is the red pigment in RBCs that binds with oxygen, so the amount of hemoglobin is a measure of how much oxygen the RBCs are capable of carrying to other cells. The normal levels range from 12 to 16 grams per deciliter for women and 13.5 to 18 for men. Low levels can result from inherited anemias, such as sickle cell anemia and thalassemia, or from anemias due to iron and vitamin deficiencies.
The Hematocrit: Ratio of Red Blood Cells
The hematocrit measures the percentage of blood volume made up of RBCs. The nominal ranges are 37% to 47% for women and 40% to 54% for men. Anemia, leukemia, blood loss, and kidney failure cause lower levels. Lung disease and loss of body fluids, such as that which occurs with severe burns, surgery, and shock, could result in higher percentages of RBCs.
White Blood Cells: The Defense Team
In normal adults, the total number of white blood cells ranges from 4,000 to 10,000 per cubic millimeter. Higher levels could be caused by infection, leukemia, acute bleeding, stress, and conditions that cause damage to the cells, such as heart attacks. Radiation, viral illness, and a weakened immune system are some of the causes of a decreased number of WBCs.
Each of the five different types of white blood cells performs a special job in defending the body against bacteria and other harmful matter. The percentage of each type of WBC in the blood is measured by the differential count or "diff." (See front of chart for WBC types and normal ranges.) Neutrophils and monocytes are the cells most active against bacterial infections. Lymphocytes help produce antibodies that can inactivate harmful substances entering the body, including infectious agents. Eosinophils and basophils are involved in allergies.
The Red Blood Cell Indices
Three measurements, known as the red cell indices, can help your doctor identify the specific types of anemia. Knowing the type of anemia and its possible cause makes it possible to treat the disease appropriately.
Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.
363: Zellweger Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Zellweger Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Cerebrohepatorenal Syndrome
Bowen Syndrome
Information on the following diseases can be found in the Related Disorders section of this report:
Benign Congenital Hypotonia
Nemaline Myopathy
Infantile Muscular Atrophy
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Zellweger Syndrome is a rare hereditary disorder affecting infants. It is characterized by reduction or absence peroxisomes in the cells of the liver, kidneys and brain. Unusual problems in prenatal development, an enlarged liver, high levels of iron and copper in the blood, and vision disturbances are among the major manifestations of Zellweger Syndrome.
Symptoms
Infants with Zellweger Syndrome often exhibit prenatal growth failure in spite of a normal period of gestation. This syndrome can often be recognized at birth due to profound lack of muscle tone; some infants may be unable to move. Other symptoms may include unusual facial characteristics, mental retardation, the inability to suck and/or swallow, and liver enlargement. Vision problems and congenital heart lesions occur less commonly. Jaundice and/or gastrointestinal bleeding due to deficiency of a coagulation factor in the blood can also occur. Pneumonia or respiratory distress may develop if infections are not prevented or controlled.
Causes
Zellweger Syndrome is inherited as an autosomal recessive trait. A deficiency or absence of microbodies known as peroxisomes cause the symptoms of this disorder. The exact cause of the lack of these peroxisomes in the tissue of the brain, liver and kidney is not yet known.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.
Affected Population
Zellweger Syndrome is present at birth. One Australian study indicated that it occurs once in 100,000 live births. However, more cases may have occurred but gone undiagnosed.
Related Disorders
Benign Congenital Hypotonia is a nonprogressive neuromuscular disorder which occurs at birth. This condition is characterized by decreased muscle tone that is manifested as muscle weakness or "floppiness". The condition can occur as a disorder of unknown cause, or as a symptom of other neuromuscular diseases. (For more information on this disorder, choose "Benign Congenital Hypotonia" as your search term in the Rare Disease Database).
Nemaline Myopathy is a hereditary muscular disease characterized by weakness and "floppiness" of skeletal muscles. The disease derives its name from the presence of very fine threads called "nemaline rods" in the microscopic muscle fibers. (For more information on this disorder, choose "Nemaline Myopathy" as your search term in the Rare Disease Database).
Infantile Muscular Atrophy is a severe and usually progressive neuromuscular disorder in infants. It is characterized by a generalized weakness of the muscles in the trunk and extremities. This disorder results from degenerative changes in the central horn cells of the spinal cord. The weakness, also referred to as "amyotonia congenital syndrome", can also be found as a symptom of other neuromuscular disorders.
Therapies: Standard
Treatment of Zellweger Syndrome is symptomatic and supportive. Genetic counseling can be of benefit to families of patients with this disorder. Infections should be guarded against carefully to delay complications.
Therapies: Investigational
Treatment of Zellweger Syndrome using an antihyperlipidemic agent known as Clofibrate has been tried. However, Clofibrate has not yet proven to be an effective treatment for Zellweger Syndrome. Further research is ongoing into the role of peroxisomes in producing this disease.
This disease entry is based upon medical information available through February 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Zellweger Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
(815) 896-3211
Muscular Dystrophy Association, National Office
3300 E. Sunrise Dr.
Tucson, AZ 85718
(602) 529-2000
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
Association Europeenne contre les Leucodystrophies
7 Rue Pasteur
54000 NANCY
France
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
ZELLWEGER SYNDROME: DIAGNOSTIC ASSAYS, SYNDROME DELINEATION, AND POTENTIAL
THERAPY: G.N. Wilson, et. al.; Am J Med Genet (May 1986, issue 24(1)). Pp. 69-82.
UNSUCCESSFUL ATTEMPTS TO INDUCE PEROXISOMES IN TWO CASES OF ZELLWEGER
DISEASE BY TREATMENT WITH CLOFIBRATE: I. Bjorkhem, et. al.; Pediatr Res (June 1985, issue 19(6)). Pp. 590-593.
Zellweger Syndrome!
pagetitle
363: Zellweger Syndrome
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`"]"Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc.
360: Zollinger-Ellison Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Zollinger-Ellison Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Pancreatic Ulcerogenic Tumor Syndrome
Multiple Endocrine Neoplasia, Type I
Partial Multiple Endocrine Adenomatosis
Z-E Syndrome
Gastrinoma
Information on the following diseases can be found in the Related Disorders section of this report:
Cushing Syndrome
Duodenal Ulcers
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Zollinger-Ellison Syndrome is an unusual ulcerative condition characterized by small tumors (usually of the pancreas) which secrete a hormone that produces excess amounts of stomach (gastric) juices. These tumors can also appear in the lower stomach wall, spleen or lymph nodes close to the stomach. Large amounts of gastric acid can be found in lower stomach areas where ulcers can form. Ulcers can appear suddenly even in areas where they are rarely found, may persist following treatment, and can be accompanied by diarrhea. Prompt medical treatment of these ulcers is necessary to prevent complications such as bleeding and perforation.
Symptoms
Tumors which characterize Zollinger-Ellison Syndrome secrete a hormone which produces excess amounts of stomach acid which can cause ulcers in the stomach, duodenum and jejunum, and in the esophagus due to a backward flow of gastric acid from the stomach. Pain from these persistent ulcers may be severe. Diarrhea and excretion of fat in the feces (steatorrhea) commonly occurs. Ulcers may persist for years despite medical or surgical treatment. This can result in a decrease of potassium levels in the blood. Complications, including holes in the organ walls where ulcers occur (perforations), bleeding or obstruction of the stomach where it empties into the intestines, may be serious and require prompt treatment.
Causes
Two common forms of Zollinger-Ellison Syndrome were identified in 1982. One form begins sporadically, usually during late adulthood, and is usually malignant. The other form is inherited as an autosomal dominant trait and occurs as a symptom of Multiple Endocrine Adenomatosis. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Other forms of Zollinger-Ellison Syndrome may also exist. The mechanism that causes the tumors to grow is unknown.
Affected Population
Zollinger-Ellison Syndrome can begin in childhood, but it is usually diagnosed between twenty to seventy years of age. This disorder seems to affect males and females in equal numbers.
Related Disorders
Zollinger-Ellison Syndrome may be associated with endocrine disorders such as increased activity of the parathyroid glands (hyperparathyroidism) and benign tissue cell growth of the adrenal or pituitary glands (adenomas).
Cushing Syndrome consists of a group of symptoms attributable to an excess of cortisol and other hormones from the cortex of the adrenal gland. It is usually caused by hormone secreting tumors of the adrenal or pituitary glands; sometimes a hyperfunctioning pituitary gland can be the cause. Hormone secreting tumors may also develop in other organs. Cushing syndrome occurs more frequently in females than in males, particularly women in their thirties following a pregnancy. The prognosis is good if the causative tumors can be removed and/or drug therapy suppresses production of the hormone. (For more information, choose "Cushing" as your search term in the Rare Disease Database.)
Duodenal ulcers are very common. A possible genetic predisposition to the disorder is possible. Steroid drugs can be one cause of these ulcers. Other possible causes include emotional stress, complications of cirrhosis of the liver, chronic pancreatitis, cystic fibrosis, or pulmonary emphysema.
Approximately ten percent of the United States population may be affected by duodenal ulcers at some time. The highest incidence occurs in Americans between twenty and fifty years of age, although duodenal ulcers can occur in children. The prognosis is generally favorable with standard treatments. However, without treatment duodenal ulcers can be serious due to possible bleeding (hemorrhage), low red blood cell count (anemia), or formation of small holes in the wall of organs where the ulcers occur (perforations).
Therapies: Standard
Patients with Zollinger-Ellison Syndrome are treated to control or reduce gastric acid production. In the past the most serious cases were treated by removal of the stomach (gastrectomy). This has been replaced (excluding the most serious cases) by use of currently available antacids and drugs such as cimetidine or ranitidine. These drugs (with or without an anticholinergic agent) control excess gastric acid in most patients. Many patients with Z-E Syndrome require higher doses than those used routinely to treat ulcers.
Imaging procedures now in use to locate the tumors are improving the success rate of treatment. These procedures include ultrasound, CT scan, and selective angiograms. Abdominal surgery to remove tumors may be indicated and anti-tumor chemotherapy may be of benefit in some cases. Genetic counseling can be useful to families of patients with Z-E Syndrome.
In March 1989 the FDA approved a new drug, Losec, for the treatment of Zollinger-Ellison Syndrome and other serious gastric disorders. Losec is manufactured by Merck & Company.
Therapies: Investigational
New tests are being developed for the diagnosis of Zollinger-Ellison Syndrome such as transhepatic pancreatic vein catheterization supplemented by determination of local hormone gradients. This may permit preoperative location of even the smallest tumors. At present, the success rate of tumor surgery is approximately twenty percent.
Surgery on the tenth cranial (vagus) nerve is being tried experimentally. Severing this nerve interrupts impulses to the acid-secreting glands of the stomach. Those who require very high doses of drugs such as cimetidine or ranitidine may be candidates for this surgery which is recommended only for the most serious cases.
Newer more potent drugs being developed for treatment of Z-E Syndrome include omeprazole. This drug is still experimental in the United States.
This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Zollinger-Ellison Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Digestive Diseases Information Clearinghouse
Box NDIC
Bethesda, MD 20892
(301) 468-2162
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
CURRENT MANAGEMENT OF ZOLLINGER-ELLISON SYNDROME: R.T. Jensen, et. al.; Drugs (August 1986, issue 32(2)). Pp. 188-196.
DIAGNOSIS AND CURATIVE THERAPY IN ZOLLINGER-ELLISON SYNDROME: W.H.
Hacki; Schweiz Med Wochenschr (April 27, 1985, issue 115(17). Pp. 575-581.
ZOLLINGER-ELLISON SYNDROME: H.D. Becker; Wien Klin Wochenschr (February 17, 1984, issue 96(4)). Pp. 138-144.
Zollinger-Ellison Syndromei#
l#pagetitle
360: Zollinger-Ellison Syndrome
04349.TXT
@&2&Copyright (C) 1993 National Organization for Rare Disorders, Inc.
940: Afibrinogenemia, Congenital
_________________________
** IMPORTANT **
It is possible that the main title of the article (Congenital Afibrinogenemia) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article.
Synonyms
Congenital Afibrinogenemia
Information on the following diseases can be found in the Related Disorders section of this report:
Factor IX Deficiency
Factor XIII Deficiency
Hageman Factor Deficiency
Hemophilia
Von Willebrand Disease
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Congenital Afibrinogenemia is a rare disorder in which the patient is born with little or no fibrinogen. Fibrinogen is a protein necessary in the blood clotting process. As a result, the blood does not coagulate causing the patient to bleed uncontrollably. Many patients may experience severe hemorrhaging during childhood while others may have very little trouble with bleeding. Congenital Afibrinogenemia is thought to be inherited as an autosomal recessive genetic trait.
Symptoms
Congenital Afibrinogenemia is a very rare blood disorder in which the patient is born with little or no fibrinogen in the circulating blood. Fibrinogen is a protein that is needed to form blood clots. When this protein is absent, the blood does not coagulate which can cause the patient to hemorrhage.
Two thirds of the patients with Congenital Afibrinogenemia have bleeding problems from infancy on. The severity and frequency of bleeding from surgery or trauma can vary from mild to severe.
Infants may have severe hemorrhaging during the first few days of life. Typically the hemorrhaging can be noticed from the umbilical cord, in the stools, when vomiting, after circumcision, from the use of forceps during delivery and/or in collections of blood that become trapped in the skin tissue (hematomas).
Other symptoms of Congenital Afibrinogenemia may be severe bleeding after minor trauma, the loss of baby teeth, or during the extraction of teeth. Patients may also bruise easily and hemorrhage from the gums.
Some patients with Congenital Afibrinogenemia also experience hemorrhaging into a joint (hemarthrosis); nosebleeds; gastrointestinal bleeding; heavy bleeding during menstruation; bleeding in the chest cavity and/or a ruptured spleen.
Causes
Congenital Afibrinogenemia is thought to be inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.
Affected Population
Congenital Afibrinogenemia is a rare disorder that affects males and females in equal numbers. Approximately one hundred and thirty cases have been recorded in the medical literature.
Related Disorders
Symptoms of the following blood clotting disorders can be similar to those of Congenital Afibrinogenemia. Comparisons may be useful for a differential diagnosis:
Factor IX Deficiency is a severe genetic bleeding disorder that resembles classic Hemophilia A. Factor IX is a component of the blood clotting substance thromboplastin. It is deficient at birth in patients with this disorder. Factor IX Deficiency varies in severity between families and occurs most often among males. In rare instances, female carriers have been known to exhibit this deficiency in a mild form. Symptoms include prolonged bleeding episodes, and in very severe cases, joint pain and bone deformities. (For more information on this disorder, choose "Factor IX Deficiency" as your search term in the Rare Disease Database).
Factor XIII Deficiency is a very rare inherited disorder that prevents the blood from clotting normally. The lack of clotting factor XIII can cause slow, oozing internal bleeding which may begin several days after even a mild trauma, such as a bump or bruise. The bleeding may persist so that large cysts form in the tissue spaces, destroying the surrounding bone and causing peripheral nerve damage. This typically occurs in the thigh and buttocks area. (For more information on this disorder, choose "Factor XIII Deficiency" as your search term in the Rare Disease Database).
Hageman Factor Deficiency is a rare genetic blood disorder. It is caused by a lack in activity of the Hageman factor in blood plasma, a single-chain glycoprotein which is also called Factor XII. This factor is needed for blood clotting. However, when it is deficient, other blood clotting factors tend to compensate for Factor XII. This disorder usually presents no symptoms and is only accidentally discovered through pre-operative blood tests that are required by hospitals. (For more information on this disorder, choose "Hageman Factor Deficiency" as your search term in the Rare Disease Database).
Hemophilia is a hereditary blood clotting disorder which affects males almost exclusively. Hemophilia is caused by the inactivity of one of the blood proteins necessary (usually Factor VIII) for clotting and can be classified by its level of severity; mild, moderate, and severe. Severity is determined by the percentage of active clotting factor in the blood. (For more information on this disorder, choose "Hemophilia" as your search term in the Rare Disease Database).
Von Willebrand Disease is a hereditary blood clotting disorder characterized by prolonged bleeding. Blood clotting is slow due to a deficiency of the Von Willebrand factor protein and factor VIII protein (the factor VIII complex). Also, platelets do not stick normally causing excessively slow clotting time. Increased risk of excessive bleeding following surgery, dental procedures or injury occurs in patients with this disorder. With proper treatment and appropriate precautions, few patients become seriously handicapped by Von Willebrand Disease. The tendency to prolonged bleeding usually decreases with age. (For more information on this disorder choose "Von Willebrand" as your search term in the Rare Disease Database)
Therapies: Standard
Patients with Congenital Afibrinogenemia may be treated with infusions of cryoprecipitate concentrates. This is prescribed to raise the fibrogen level in the blood permitting clots to form.
Fibrogen concentrates may be given but there is a risk of contracting an infectious disorder. Cryoprecipitate is the preferred treatment.
Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future.
This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Congenital Afibrinogenemia:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Hemophilia Foundation
110 Greene St., Suite 303
New York, NY 10012
(212) 563-0211
NIH/National Heart Lung & Blood Institute (NHLBI)
9000 Rockville Pike
Bethesda MD 20892
(301) 496-4236
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10505
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1199-1200.
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 1073.
HEMATOLOGY, 4TH Ed,: William J. Williams, et al,: Editors; McGraw-Hill, Inc. Pp. 1474-5.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 62-3.
PROPHYLACTIC CRYOPRECIPITATE IN CONGENITAL AFIBRINOGENEMIA: R.C.
Rodriguez, et al.; Clin Pediatr (November, 1988, issue 27(11)). Pp. 543-5.
f'pagetitle
Afibrinogenemia, Congenital
cle c'
940: Afibrinogenemia, Congenital
04350.TXT
Copyright (C) 1993 National Organization for Rare Disorders, Inc.
946: Chandler's Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Chandler's Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Dystrophia Endothelialis Cornea
Iris Atrophy with Corneal Edema and Glaucoma
Information on the following diseases can be found in the Related Disorders section of this report:
Essential Iris Atrophy
Cogan-Reese Syndrome
Glaucoma, Primary
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Chandler's Syndrome is a very rare eye disorder that effects women more often that men. It usually becomes apparent during middle age and can cause increased development in the cells lining the cornea, drying up of the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). The disorder may result in vision loss.
Symptoms
Chandler's Syndrome is characterized by proliferation of the cells lining the cornea, swelling of the cornea, iris destruction with development of scar tissue, and glaucoma (high pressure) within the eye.
The disorder may cause blurred vision, pain and swelling in the eyes with eventual loss of vision. Usually only one eye is affected; however, the other eye may become involved later.
Causes
The exact cause of Chandler's Syndrome is not known. Some researchers suspect that inflammation or chronic infection may be the cause of the disease. The thickness, shape, and size of the cornea are changed by the disease.
Affected Population
Chandler's Syndrome is a very rare disorder that affects females more often than it does males. The disorder usually appears during the middle aged years.
Related Disorders
Symptoms of the following disorders can be similar to those of Chandler's Syndrome. Comparisons may be useful for a differential diagnosis:
Essential Iris Atrophy is a very similar disorder to Chandler's Syndrome and their symptoms may even overlap. Essential Iris Atrophy is characterized by the movement of the pupil into an unusual location within the eye and the development of holes in the iris. This condition also causes increased pressure and swelling within the eye. If left untreated vision loss may occur.
Cogan-Reese Syndrome is characterized by loss of iris tissue and the development of small wart-like growths on the iris. Increased pressure within the eye and corneal swelling are also evident. This disorder differs from Cogan Corneal Dystrophy which is inherited as an autosomal dominant disorder.
Glaucoma occurs as a secondary characteristic of Chandler's Syndrome. When it occurs as a primary disease in individuals it is characterized by increased pressure within the eye. If left untreated the increased pressure may affect the lens and the optic nerve, resulting in eventual blindness. Glaucoma usually occurs for unknown reasons, however, it is more prevalent in diabetics. Some symptoms for persons to be aware of are: blurred vision, rainbow colored halos around lights, and loss of side vision resulting in "tunnel vision". A simple test can measure the pressure in a persons eye and this testing is recommended annually for persons over age forty. Treatment may consist of medicated eye drops and if these are unsuccessful surgery may be necessary.
Therapies: Standard
Treatment of Chandler's Syndrome usually involves the use of drops in the eyes to control the glaucoma and swelling (edema). Pilocarpine and Timoptic are drugs used for this purpose. If these methods are unsuccessful surgery may be indicated. Keratoplasty, iridectomy, and trabeculectomy are three types of surgical methods used to treat Chandler's Syndrome. Laser surgery is a fourth type of treatment; it is often used to control the secondary glaucoma.
Therapies: Investigational
This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Chandler's Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812
(203) 746-6518
NIH/National Eye Institute (NEI)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5248
National Society to Prevent Blindness
79 Madison Ave
New York, NY 10016
(212) 684-3505
Eye Research Institute of the Retina Foundation
20 Staniford St.
Boston, MA 02114
(617) 742-3140
References
CLINICAL OPHTHALMOLOGY, 2nd Ed.; Jack J. Kanski, Editor; Butterworth-Heinemann, 1990. P. 222.
OPHTHALMOLOGY PRINCIPLES AND CONCEPTS, 7th Ed.; Frank W. Newell, Mosby Year Book, 1992, Pp. 275-276.
PATHOGENESIS OF CHANDLER'S SYNDROME, ESSENTIAL IRIS ATROPHY AND THE
COGAN-REESE SYNDROME. I. ALTERATIONS OF THE CORNEAL ENDOTHELIUM., J.A.
Alvarado, et al.; Invest Ophthalmol Vis Sci, June, 1986, (issue 27 (6)). Pp. 853-872.
PATHOGENESIS OF CHANDLER'S SYNDROME, ESSENTIAL IRIS ATROPHY AND COGAN-
REESE SYNDROME. II. ESTIMATED AGE AT DISEASE ONSET., J.A. Alvarado, et al.; Invest Ophthalmol Vis Sci, June, 1986, (27 (6)). Pp. 873-882.
Chandler's Syndrome
ycog'
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946: Chandler's Syndrome
04331.TXT
Copyright (C) 1986, 1987, 1988, 1989, 1992 National Organization for Rare Disorders, Inc.
298: Williams Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Williams Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Beuren's syndrome
Early Hypercalcemia syndrome
Elfin Face
Hypercalcemia-Supravalvar Aortic Stenosis
Hypercalcemic Face
Infantile Hypercalcemia syndrome, Idiopathic
Williams-Beuren syndrome
Information can be found on the following disorders in the Related Disorders section of this report.
Noonan Syndrome
Idiopathic Infantile Hypercalcemia
Supravalvar Aortic Stenosis
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Williams Syndrome is a rare congenital disorder characterized by distinctive elfin facial features, extraordinarily sensitive hearing, developmental delays, short stature, and an impulsive, outgoing personality. Other symptoms, which may appear in some cases, include a star-like pattern in the iris of the eye, low birth weight, heart disorders, elevated calcium levels in the blood, hernias, learning disabilities, and/or possible mild mental retardation.
Symptoms
Children born with Williams syndrome may exhibit the following symptoms:
1. Facial characteristics resemble an "elfin face", with a broad forehead, upturned nose, wide mouth, full lips, widely spaced teeth, small chin, puffiness around the eyes, a small head and depressed nasal bridge.
2. Hearing is apparently oversensitive. Patients with Williams syndrome can overreact to loud and high-pitched sounds.
3. Motor development such as sitting, walking, language, gross and fine motor skills may be delayed.
4. Personality is friendly and talkative. Children with Williams syndrome seem unafraid of strangers. They have some attention problems and are sometimes described as impulsive.
5. Children with blue or green eyes may have a star-like pattern in the iris. Brown-eyed children with Williams syndrome usually don't display this pattern.
6. Some children with Williams syndrome have a low birth weight and may not thrive. Vomiting, gagging, diarrhea or constipation are common in infancy.
7. Heart disorders may occur, ranging from slight murmurs to narrowing (stenosis) of the aorta or the pulmonary veins.
8. The calcium level in the blood may be elevated. When this symptoms occurs, it appears only during the first two months of life, then disappears.
9. Hernias at the navel (umbilical) or in the groin (inguinal) may occur.
10. Mild mental retardation may occur, but some children have average intelligence with severe learning disabilities. They exhibit attention-deficit behaviors, but generally have good long-term memory.
11. Premature puberty occurs in many of these children.
Causes
The exact cause of Williams Syndrome is unknown although in some cases it is thought to be an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.)
Affected Population
Williams syndrome may affect infants of both sexes, and it occurs in all races. This disorder occurs in about 1 in 20,000 births.
Related Disorders
Noonan Syndrome is an inherited disorder with widely variable symptoms whereas Williams Syndrome may or may not be inherited. Patients may exhibit distinctive facial characteristics at birth similar to those of Williams Syndrome. Short stature and heart disease mark some cases in both disorders. It is much less prevalent among Noonan patients. (For more information on this disorder, choose "Noonan" as your search term in the Rare Disease Database.
Idiopathic Infantile Hypercalcemia without any other symptoms is an elevated calcium level in the blood, without a known cause. This occurs during infancy.
Supravalvar Aortic Stenosis is the narrowing of the aorta occurring above the aortic valve. This may occur alone, or in conjunction with other disorders.
Therapies: Standard
When elevated calcium levels in the blood of affected infants occurs, excessive Vitamin D in the diet should be avoided and calcium should be restricted to 25 to 100 milligrams per day. For severe hypercalcemia, hydrocortisone analog therapy may be considered on a temporary basis. An endocrinologist should be consulted. After a child is a few months old, calcium levels will return to normal even in untreated patients.
For the physical and mental developmental deficiencies, centers for developmentally disabled children and special education services in schools may be beneficial. Medical help from heart specialists and other physicians, speech and language therapy, occupational and physical therapy, and vocational training can all help children with Williams Syndrome to cope with their handicaps.
Therapies: Investigational
The University of Nevada School of Medicine, The Indiana University School of Medicine, and The Utah School of Medicine are studying blood samples in DNA in a collaborative effort to locate the genes responsible for Williams Syndrome and Supravalvular Aortic Stenosis. It is thought that these two disorders may be closely linked. Researchers are collecting DNA from children with Williams Syndrome and their parents. Interested families may contact:
Dr. Colleen A. Morris
2040 W. Charleston Blvd., Suite 401
Las Vegas, NV 89102
(702) 385-5011
This disease entry is based upon medical information available through December 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Williams Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Williams Syndrome Association
P.O. Box 3297
Ballwin, MO 63022-3297
Infantile Hypercalcaemia Foundation Ltd.
37 Mulberry Green
Old Harlow, Essex CM17 OE4
England
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
FACTS ABOUT WILLIAMS SYNDROME: Williams Syndrome Association, 1984.
BIRTH DEFECTS COMPENDIUM, 2nd ed: Daniel Bergsma, ed; March of Dimes, 1979.
THE WILLIAMS SYNDROME ASSOCIATION NATIONAL NEWSLETTER, Volume 9, #1, Spring 1992.
Williams Syndrome
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298: Williams Syndrome
04332.TXT
$h$Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.
343: Wilms' Tumor
_________________________
** IMPORTANT **
It is possible the main title of the article (Wilms' Tumor) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Nephroblastoma
Embryoma Kidney
Embryonal Carcinosarcoma Kidney
Embryonal Mixed Tumor Kidney
Embryonal Adenomyosarcoma Kidney
Information on the following disorders can be found in the Related Disorders section of this report:
Renal Cell Carcinoma
Transitional Cell Carcinoma
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Wilms' Tumor is the most common form of kidney cancer in children, accounting for six to eight percent of all childhood cancers. The exact cause is not known, although it is thought to be inherited in some cases. An abdominal swelling is the most common symptom usually leading to early detection of the disease. Wilms' Tumor can often be treated successfully depending on the stage of the tumor at detection and the age and general health of the child. Approximately eighty percent of children with this disease can be cured with appropriate treatment.
Symptoms
In the early stages, Wilms' Tumor usually has no apparent symptoms. Later signs may include blood in the urine, low-grade fever, loss of appetite, paleness, weight loss, lethargy, and a swelling of the abdomen. In the later stages, pain may be intermittent and slight, or sudden and sharp. These symptoms could be due to a variety of other disorders, but parents who observe such symptoms should consult a doctor promptly.
Developmental anomalies may also be apparent in patients with Wilms' Tumor. These may include absence of the colored portion of the eye or iris (Aniridia) which occurs in approximately ten percent of patients, an abnormal enlargement of a part of the body (hemihypertrophy) which occurs in about three percent, and various genitourinary defects in about five percent of cases.
Causes
The exact causes of Wilms' Tumor are not known at this time. Scientists believe that there are both hereditary and nonhereditary forms of the disease.
The hereditary type of Wilms' Tumor may arise at an earlier age and is likely to affect both kidneys or several sites in one kidney. Scientists suspect that a genetic abnormality causes a defect in the fetal kidney, and genetic studies have tentatively identified the location of this chromosome. When the disorder is inherited it is usually transferred through a recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.)
Affected Population
Wilms' Tumor accounts for six to eight percent of all childhood cancers. The disorder affects one child in about 10,000 in the United States. The onset of Wilms' Tumor occurs mainly in children under the age of seven, with most cases developing between the ages of one and four years of age. Boys and girls are affected equally.
Related Disorders
Renal Cell Carcinoma, the most common type of kidney cancer in adults, arises in the lining of the kidney (renal) tubules. Also known as renal adenocarcinoma, hypernephroma, and Grawitz' Tumor, it accounts for more than eighty-five percent of all adult kidney cancers.
Transitional Cell Carcinoma of the renal pelvis is the next most common form of adult kidney cancer. The symptoms of this disorder resemble bladder cancer in many ways.
Therapies: Standard
In general, treatment of Wilms' Tumor is usually successful. Treatment programs that combine modern surgical techniques (including kidney removal), radiation therapy, and chemotherapy (Actinomycin D and vincristine can reduce the size of Wilms' Tumors), have brought dramatic progress in treating this disease.
Children treated for Wilms' Tumor are usually considered cured if they survive for two years without any sign that the disease has returned. The small number of children with aggressive cell types, or with widespread disease at the time of diagnosis have a poorer outlook, but many of these patients are curable with intensive therapy.
Treatment centers have adopted a modern team approach in caring for Wilms' Tumor patients. With pediatric surgeons, radiation therapists and doctors who specialize in treatment of tumors (oncologists) working together, these centers have consistently reported overall two-year survival rates of seventy to eighty percent in children treated for Wilms' Tumor.
Chemotherapy and radiation therapy can cause undesirable side effects such as nausea and vomiting. A more serious short-term side effect is the suppression of bone marrow. In killing cancer cells, chemotherapy and radiation therapy can also destroy some normal cells in the bone marrow. If the white cells, red cells, and platelets fall too low, patients can become susceptible to bleeding and infection. Such side effects are usually temporary. Supportive care, such as antibiotic therapy, often helps to protect patients from complications during their treatment.
Therapies: Investigational
Researchers have reported that there may be a link between tumor growth in the patients with Wilms' Tumor and a deletion of the p13 section of chromosome 11. Further research may indicate the site of the gene that controls the cancer cell growth and enable the scientist to suppress the cells' ability to form tumors.
The National Wilms' Tumor Study (NWTS), was conducted by a national consortium of hospitals and clinics, with funding from the National Cancer Institute for the purpose of carrying out controlled clinical trials of new treatments for Wilms' Tumor. Findings of this study are the basis for treatment standards for Wilms' Tumor patients in the United States. Researchers are now considering ways to improve the care of patients with spreading cancer or those with cell types shown at high risk by previous research.
This disease entry is based upon medical information available through February 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Wilms Tumor, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Kidney Foundation
2 Park Ave.
New York, NY 10016
(212) 889-2210
(800) 622-9010
American Kidney Fund
6110 Executive Blvd., Suite 1010
Rockville, MD 20852
(301) 881-3052
(800) 638-8299
(800) 492-8361 (MD)
American Cancer Society
1599 Clifton Rd., NE
Atlanta, GA 30329
(404) 320-3333
NIH/National Cancer Institute
9000 Rockville Pike, Bldg. 31, Rm. 1A2A
Bethesda, MD 20892
1-800-4-CANCER
The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call:
Cancer Information Service (CIS)
1-800-4-CANCER
In Washington, DC and suburbs in Maryland and Virginia, 636-5700
In Alaska, 1-800-638-6070
In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect)
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
ADULT KIDNEY CANCER AND WILMS' TUMOR: RESEARCH REPORT. U.S. Department of Health and Human Services, Public Health Service, National Cancer Institute, National Institutes of Health.
Wilms' Tumor{%
~%pagetitle
343: Wilms' Tumor
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8Copyright (C) 1985, 1986, 1990, 1991, 1992 National Organization for Rare Disorders, Inc.
26: Wilson's Disease
_________________________
** IMPORTANT **
It is possible that the main title of the article (Wilson 's Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article.
Synonyms
Hepatolenticular Degeneration
Lenticular Degeneration, Progressive
Information on the following diseases can be found in the Related Disorders section of this report:
Chorea, Sydenham's
Cirrhosis, Primary Biliary
Heavy Metal Poisoning
Levine-Critchley Syndrome
Huntington's Disease
Tourette Syndrome
Cerebral Palsy
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Wilson's Disease is a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. Later developments include liver (hepatic) disease and central nervous system dysfunction. Early diagnosis and treatment may prevent serious long-term disability.
Symptoms
Wilson's Disease usually begins with hepatic (liver) or neurologic disturbances, or both. Symptoms of liver dysfunction usually appear after 6 years of age. Jaundice causes a yellow discoloration of the skin, mucous membranes and the sclera of the eyes (membranes that line the eye). Vomiting may also occur. Neurologic symptoms are usually first seen between the ages of 12 and 32 years and are characterized by drooling, difficulty speaking and poorly articulated words (dysarthria). Other neurological symptoms may include difficulty when swallowing (dysphagia), lack of coordination, tremor, spasticity, muscle rigidity and double vision.
Other symptoms of Wilson's Disease may include kidney stones, joint disorders and abnormalities of the heart (cardiomyopathy). It is believed that a sudden release of copper from the liver may cause an acute crisis in some patients due to the sudden rapid breakdown of red blood cells (hemolysis).
The Kayser-Fleischer ring is an important symptom that eventually appears in the eyes of patients with Wilson's Disease, and especially in patients with neurologic involvement. This ring is a rusty-brown deposit in the corneas of the eyes that may not be present until the later stages of Wilson's disease.
Neurological signs and symptoms that may appear in the late stages of Wilson's Disease include decreased cognitive abilities and behavioral disturbances. Joint and bone involvement may include a thinning of the bones (osteoporosis) and the appearance of bony outgrowths (osteophytes) at large joints. There may be reduced spinal and extremity joint spaces. Kidney involvement may include renal tubular damage.
The psychiatric manifestations of Wilson's Disease vary widely from patient to patient. These symptoms may be confused with other psychiatric disorders, ranging from depression to schizophrenia. Accurate diagnosis is essential as medications that are commonly given for such disturbances (phenothiazines) can aggravate the neurologic and psychiatric symptoms of Wilson's Disease. The side effects of these drugs may appear similar to symptoms of Wilson's Disease. Most patients with the psychiatric symptoms of Wilson's Disease also have neurologic symptoms and Kayser-Fleischer rings in the corneas of their eyes.
In adolescent females, menstruation may not begin until the disease is treated. This is due to the general disturbances in metabolism caused by Wilson's Disease.
Causes
Wilson's Disease is inherited as an autosomal recessive genetic trait. The defective gene that prevents the liver from adequately excreting copper in the bile has been located on chromosome 13 at position q14. Symptoms develop due to the gradual over-accumulation of copper in the body.
Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.
Affected Population
Wilson's Disease is a rare disorder that affects males and females in equal numbers. The disease is found in all races and ethnic groups. Wilson's Disease occurs in approximately 1 in 100,000 people worldwide. There are about 2,000 diagnosed cases in the United States. Many cases are misdiagnosed, however, usually as mental illness, and the true incidence may be higher.
Related Disorders
Symptoms of the following disorders can be similar to those of Wilson's Disease. Comparisons may be useful for a differential diagnosis:
Sydenham's Chorea is an acute, usually self-limited disorder that occurs after about 5 to 10 percent of cases of rheumatic fever. The disorder typically begins with jerky, uncontrollable, non-repetitive muscle movements on one or both sides of the body. Patients develop rapid, involuntary movements that can affect the manner or style of walking, arm movements and speech. Clumsiness and facial grimacing are common. (For more information on this disorder choose "Sydenham's Chorea" as your search term in the Rare Disease Database).
Primary Biliary Cirrhosis is a chronic, progressive disease of the liver thought to be related to abnormalities in the immune system. The initial symptoms of this disorder usually include persistent, generalized itching, dark urine, pale stools and jaundice. Eventually, excessive amounts of copper accumulate in the liver and fibrous or granular hardening occurs in the soft tissue of the liver. (For more information on this disorder, choose "Primary Biliary Cirrhosis " as your search term in the Rare Disease Database).
Heavy Metal Poisoning is generally caused by industrial exposure to a variety of toxins such as copper, aluminum, arsenic or mercury. Depending of the type and duration of exposure, the injury may occur in the lungs, nervous system, the skin or digestive system. The symptoms of the poisoning vary according to the type of metal that was involved in the overexposure. These include headache, nausea, dizziness, painful joints and muscles, delirium, seizures and a wide range of other symptoms. (For more information on these disorders, choose "Heavy Metal Poisoning " as your search term in the Rare Disease Database).
Levine-Critchley Syndrome is a very rare genetic disorder of the neuromuscular and blood systems. Abnormal blood cells (acanthocytosis) are produced and there is a wasting away (atrophy) of muscles. The major symptom of this disorder is uncontrolled rapid muscular movements (amyotrophic chorea). Initially there are subtle involuntary movements (tics) of the face, mouth, and tongue. These slowly progress to severe, uncontrolled, rapid motions (chorea) of the trunk and limbs. Approximately 50 percent of people with Levine-Critchley Syndrome have seizures. (For more information on this disorder, please choose "Levine-Critchley" as your search term in the Rare Disease Database).
Huntington's Disease (Huntington's Chorea) is an inherited, progressively degenerative neurological disorder. Initially there are personality changes and rapid jerky muscle movements that are involuntary. In time speech and memory become impaired and involuntary muscle movements become more frequent and pronounced. As Huntington's Disease progresses there is a further loss of cognitive abilities and dementia. The symptoms of this disorder usually begin during adulthood generally after the age of forty. (For more information on this disorder choose "Huntington" as your search term in the Rare Disease Database.)
Tourette Syndrome is a neurologic movement disorder that is characterized by repetitive motor and vocal tics. The first symptoms during childhood are usually rapid eye blinking or facial grimaces. Symptoms may also include involuntary movements of the extremities, shoulders, face and voluntary muscles. Some people with Tourette Syndrome may vocalize involuntarily; these may be inarticulate sounds or words. Tourette Syndrome is not a progressive or degenerative disorder; symptoms tend to be variable and follow a chronic waxing and waning course. Onset is usually begin before the age of 16. (For more information on this disorder, choose "Tourette" as your search term in the Rare Disease Database.)
Cerebral Palsy is a neuromuscular disorder that is the result of an injury to the brain during early development or at birth. The major symptom of this disorder is a lack of muscle control and coordination. Cerebral Palsy is not a progressive disorder. Generally infants may exhibit developmental delays during the first or second year and may have muscle weakness and abnormal muscle tone. The coordination and speech difficulties associated with Wilson's Disease can resemble the symptoms of Cerebral Palsy. (For more information on this disorder, choose "Cerebral Palsy" as your search term in the Rare Disease Database.)
Therapies: Standard
Wilson's Disease is routinely treated with the drug D-Penicillamine. This drug causes the excretion of copper into the urine. Pyrimidine Hydrochloride (Vitamin B6) is usually prescribed to counteract a side effect of penicillamine that can make the patient deficient in Vitamin B6. Treatment must be continued throughout life to avoid abnormal accumulation of copper. However, some patients cannot tolerate long-term therapy with penicillamine.
The orphan drug Trien (brand name Cuprid) was approved by the FDA for treatment of Wilson's Disease in 1985. The drug is manufactured by Merck, Sharp and Dohme. Cuprid is an effective therapy for those Wilson's Disease patients who cannot tolerate penicillamine.
Physical therapy and speech therapy can be helpful for Wilson's Disease patients with neurological involvement. Liver transplants have been successful in cases of severe liver damage. A low copper diet is often advised. Chocolate, nuts and shell fish are usually high in copper and should not be eaten in excess. Diet information can be obtained from the Wilson's Disease Association.
Genetic counseling will be of benefit for patients and their families.
Therapies: Investigational
The orphan drug Zinc Acetate is being tested as a maintenance therapy to treat Wilson's Disease. Zinc acetate is a common nutritional substance; however, it must be taken in certain doses at specific times during the day to affect copper metabolism. Therefore, careful monitoring by a physician is necessary to assure effectiveness on Wilson's Disease patients. Zinc acetate is manufactured by Lemmon Co., 650 Catarhill Road, Sellersville, PA 18960. For more information, please contact:
George J. Brewer, M.D.
University of Michigan Medical School
Medical Science #MU708
Box 0618
University of Michigan
Ann Arbor, MI 48109-0618
Investigational studies are underway to determine the effectiveness of ammonium tetrathiomolybdate as a possible treatment for Wilson's Disease. This agent is being used for initial rapid "decoppering" of patients with this disorder. Further studies are necessary to determine the long-term safety and effectiveness of this treatment.
This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Wilson's Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Wilson's Disease Association
P.O. Box 75324
Washington, DC 20013
(703) 636-3014
American Liver Foundation
998 Pompton Ave.
Cedar Grove, N.J. 07009
(201) 857-2626
The United Liver Foundation
11646 West Pico Blvd.
Los Angeles, CA 90064
(213) 445-4204
(213) 445-4200
Children's Liver Foundation
14245 Ventura Blvd.
Sherman Oaks, CA 91423
(818) 906-3021
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed., Scriver, Beaudet, Sly, and Valle; McGraw-Hill; 1989. Pp. 1416-1421.
MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1756-1757.
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1132-1133.
WILSON'S DISEASE, S.E. Woods; Am Family Physician (July 1989; 40(1)): Pp. 171-178.
WILSON'S DISEASE: CURRENT STATUS, J.C. Yarse et al.; Am J Med (June 1992; 92(6)): Pp. 643-654.
PATHOPHYSIOLOGY AND TREATMENT OF WILSON'S DISEASE, R.M. Tankanow; Clin Pharm (Nov 1991; 10(11)): Pp. 839-849.
Wilson's Disease
9pagetitle
26: Wilson's Disease
04334.TXT
Copyright (C) 1993 National Organization for Rare Disorders, Inc.
937: Winchester Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Winchester Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Winchester-Grossman Syndrome
Information on the following diseases can be found in the Related Disorders section of this report:
Juvenile Arthritis
Mucopolysaccharidosis
General Discussion
**REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Winchester Syndrome is a very rare disorder believed by some scientists to be closely related to the mucopolysaccharidoses which is a group of hereditary lysosomal storage disorders. Major symptoms of Winchester syndrome may include short stature, arthritis-like symptoms, eye and skin problems.
Symptoms
Winchester Syndrome is characterized by clouding of the cornea of the eyes, dwarfism, arthritis-like symptoms in the joints, thickening of the skin and the growth of abnormal amounts of hair on the thickened skin.
The syndrome becomes apparent usually around the age of two years. The child's joints become stiffened and painful with swelling and redness. The areas affected most often are the fingers, elbows, knees and feet. The skin may become very thick and leathery with excessive amounts of hair growing in these areas along with a darker skin coloring. The lips and gums are thickened causing coarse facial features. As the child grows dwarfism becomes apparent. During later childhood or adulthood bones in the ankles and feet may weaken due to loss of calcium. The eyes may develop corneal opacities (a cloudy covering over the cornea) causing vision problems. The disorder leads to severe joint contractures but mental functioning is not affected.
Causes
Winchester Syndrome is a very rare disorder thought to be caused by autosomal recessive genes. Some scientists believe it is a very rare type of Mucopolysaccharidosis, because a form of carbohydrate, oligosaccharide, is lost in the urine of some Winchester patients. However, tests to prove this theory are not conclusive.
The Mucopolysaccharidoses are a group of Lysosomal storage disorders. These illnesses are characterized by loss of saccharids in the urine and storage of these in some of the body's tissues such as the lips, gums, bones and skin.
Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.
Affected Population
Winchester Syndrome affects males and females in equal numbers. The medical literature has reported less than 10 people identified with Winchester Syndrome. They are of Mexican, Indian, Puerto Rican and Iranian decent. Other patients may be undiagnosed or misdiagnosed.
Related Disorders
Symptoms of the following disorders can be similar to those of Winchester Syndrome. Comparisons may be useful for a differential diagnosis:
Juvenile Arthritis is a relatively rare childhood disorder characterized by pain and deformity of the joints. Major symptoms may include swollen and painful joints, fever, skin rash, swollen lymph glands, an enlarged spleen and liver. (For more information on this disorder, choose "Juvenile Arthritis" as your search term in the Rare Disease Database).
The Mucopolysaccharidoses are a group of rare hereditary diseases of lysosomal storage. They are characterized by deposits of mucopolysaccharides in the arteries, skeleton, eyes, joints, ears, skin and teeth. Accumulation is especially noticed in the cartilage and bone tissue. The child may appear normal at birth and around the age of one begin to show signs of both growth and mental retardation. (For more information on this disorder, choose "Mucopolysaccharidoses" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Winchester Syndrome consists of physical therapy to help promote use of the affected limbs. The use of mobility devices may be required. Orthopedic procedures to decrease contractures may be of benefit. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future.
This disease entry is based upon medical information available through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Winchester Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812
(203) 746-6518
Juvenile Arthritis Foundation
1314 Spring St., NW
Atlanta, GA 30309
(404) 872-7100
The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1758
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1781
THE SKIN IN THE WINCHESTER SYNDROME., A.H. Cohen, et al.; Arch Dermatol, February, 1975, (issue 111(2)). Pp. 230-236.
TWO CASES OF WINCHESTER SYNDROME: WITH INCREASED URINARY OLIGOSACCHARIDE
EXCRETION., D.B. Dunger, et al.; Eur J Pediatr, November, 1987, (issue 146 (6). Pp. 615-619.
WINCHESTER SYNDROME: REPORT OF A CASE FROM IRAN. H. Nabai, et al.; J Cutan Pathol, October, 1977, (issue 4 (5)). Pp. 281-285.
Winchester Syndrome
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76: Wiskott-Aldrich Syndrome
?Copyright (C) 1986, 1987, 1988, 1993 National Organization for Rare Disorders, Inc.
76: Wiskott-Aldrich Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Wiskott-Aldrich Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article.
Synonyms
WAS
Immunodeficiency with Thrombocytopenia and Eczema
Aldrich syndrome
Eczema-Thrombocytopenia-Infection Syndrome
Immunodeficiency, Wiskott-Aldrich Type
Immunodeficiency-2
IMD-2
Information on the following diseases can be found in the Related Disorders section of this report:
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Wiskott-Aldrich Syndrome is a rare inherited disorder (X-linked) characterized by an immune deficiency primarily affecting B lymphocytes, scaly red skin rashes (eczema), and abnormally low levels of circulating blood platelets (thrombocytopenia). The B lymphocytes are specialized white blood cells of the immune system that search out and attack bacteria, viruses, or other foreign substances in the body. The symptoms of Wiskott-Aldrich Syndrome may vary greatly among patients. Children with this disorder can face life-threatening complications of thrombocytopenia and immunodeficiency prior to adulthood.
Symptoms
The symptoms of Wiskott-Aldrich Syndrome generally begin during infancy. Excessive bleeding (hemorrhage) from circumcision or minor trauma is common in infants with this disorder. Bleeding may occur from the intestines and hemorrhaging may be severe. The skin may have small red spots (petechiae) and/or purplish discolorations due to the leakage of blood under the skin (thrombocytopenic purpura). In addition, infants with Wiskott-Aldrich Syndrome may have chronic red, scaly rashes on the skin (eczema).
Male children with Wiskott-Aldrich Syndrome have defects in their resistance to infections. These defects occur because of the inability of T lymphocytes to properly resist infectious disease (cell-mediated immunity). T lymphocytes, also known as "killer cells," assist B lymphocytes to respond to infection and other foreign agents that invade the body. Defects also occur in the development and the continuing presence of circulating antibodies in the blood (humoral immunity).
The most outstanding immune defect in infants with Wiskott-Aldrich Syndrome is the inability to produce antibodies to certain complex carbohydrates (polysaccharide antigens). Children with this disorder are highly susceptible to infections with particular organisms that have coverings or are "encapsulated," since these coverings contain polysaccharides. These encapsulated organisms include pneumococcus and Hemophilus influenzae. Children with Wiskott-Aldrich Syndrome commonly experience infections of the middle ear (otitis media), acute inflammation of the lungs (pneumonia), inflammation of the membranes that cover the brain and spinal cord (meningitis), and systemic infection with bacteria present in the blood stream (sepsis).
Cell-mediated immunity and T cell function become progressively worse as a child with Wiskott-Aldrich Syndrome ages. Fungal and viral infections can become serious problems late in the course of the disorder. Pneumocystis carinii (a bacteria that causes pneumonia) and herpes virus infections are also common.
Other symptoms of Wiskott-Aldrich Syndrome include an abnormally enlarged spleen (splenomegaly) and anemia. People with this disorder have a 10 percent chance of developing malignancies, particularly leukemia and lymphoma. (For more information on these disorders, choose "Anemia," "Leukemia," and "Lymphoma" as your search term in the Rare Disease Database.)
People with Wiskott-Aldrich Syndrome have normal levels of total antibodies in their blood; however, the proportions of different antibodies are abnormal. Cells that later produce platelets (precursors) appear normal under a microscope, but platelets circulating in the blood stream have both structural and functional abnormalities.
Causes
Wiskott-Aldrich Syndrome is inherited as an autosomal recessive X-linked genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.
The defective gene that causes Wiskott-Aldrich Syndrome is located on the short arm of the X chromosome (p11.4-p11.21). Males get the more severe form of the disorder.
Affected Population
Wiskott-Aldrich Syndrome is a rare disorder that affects more males than females. Females can get a milder form of the disorder, or be a carrier with no symptoms.
Related Disorders
Symptoms of the following disorders can be similar to those of Wiskott-Aldrich Syndrome. Comparisons may be useful for a differential diagnosis:
Primary Agammaglobulinemias (X-linked Immunodeficiency) are a group of inherited immune deficiencies characterized by insufficient antibodies. The most frequent symptoms of these disorders are usually repeated bacterial infections. Bacteria infections are a frequent cause of chronic inflammation of the intestines and diarrhea. Repeated infections of the middle ear and respiratory tract may also occur. Areas of patchy, reddish skin may appear around the eyes, fingers, knees, and ankles. Some children with Primary Agammaglobulinemias experience joint swelling and pain. (For more information on this disorder, choose "Primary Agammaglobulinemias" as your search term in the Rare Disease Database.)
Severe Combined Immunodeficiency (SCID) is a group of rare, congenital disorders characterized by little or no immune response. A person with this disorder is susceptible to recurring infections with bacteria, viruses, fungi, and other infectious agents. If untreated, this disorder may result in frequent, severe infections, growth retardation, and can be life-threatening. Other symptoms of this disorder may include weight loss, weakness, infections of the middle ear, and skin infections. (For more information on this disorder, choose "Severe Combined Immunodeficiency" as your search term in the Rare Disease Database.)
DiGeorge Syndrome is a very rare immune deficiency that results from developmental defects in the thymus and parathyroid glands. This disorder is characterized by seizures during the first few days of life due to the abnormal function of the parathyroid gland. Inability to fight off frequent infections from viruses, fungi, and other bacteria is characteristic of this disorder. Children with DiGeorge Syndrome frequently have chronic nasal infections, diarrhea, oral candidiasis, and Pneumocystis pneumonia. (For more information on this disorder, choose "DiGeorge" as your search term in the Rare Disease Database.)
Nezelof Syndrome is a rare immune deficiency disorder characterized by the impairment of cellular immunity against infections. Symptoms of this disorder may include frequent and severe infections from birth including oral candidiasis, diarrhea, skin infections, septicemia, urinary tract infections, measles, pulmonary infections, and vaccinia. Typically a child with this disorder may be mentally retarded and have a progressive loss of muscle tissue. (For more information on this disorder, choose "Nezelof" as your search term in the Rare Disease Database.)
Ataxia Telangiectasia is a severe, rare, inherited neurological disorder characterized by the progressive loss of motor coordination in the arms, legs, and head (cerebellar ataxia). Some cases of this disorder are associated with immunodeficiencies (IgA or IgE). Mental development may be normal in the early stages of the disease, but progressive dementia may occur. This disease usually begins in infancy but may not be apparent until the child is school age. Classic red spots or telangiectasia appear in the eyes, and later on the face and roof of the mouth. (For more information on this disorder, choose "Ataxia Telangiectasia" as your search term in the Rare Disease Database.)
Therapies: Standard
Children with Wiskott-Aldrich Syndrome are treated regularly with transfer factor, a substance derived from lymphocytes. About 50 percent of patients experience a restoration of the proper function of blood cells and the immune system. This factor also improves the itchy red rashes (eczema) associated with this disorder.
Researchers are studying bone marrow transplantation from a compatible donor (allogenic) as a possible treatment for some cases of Wiskott-Aldrich Syndrome. Patients treated with this procedure receive high doses of chemotherapy, followed by radiation therapy. Then donor bone marrow cells are given intravenously to the patient. It is hoped that this procedure may lead to the improvement of the blood abnormalities and immune deficiencies associated with Wiskott-Aldrich Syndrome. A complication of this procedure may be Graft versus Host Disease, has also been used with some success in a few patients. (For more information on this disorder, choose "Graft versus Host" as your search in the Rare Disease Database.)
Children with Wiskott-Aldrich Syndrome who do not respond well to transfer factor, are given antibodies intravenously and antibiotics that may help reduce susceptibility to infectious disease. Excessive abnormal bleeding, a complication of thrombocytopenia, may be managed by administering carefully purified platelet concentrates or the surgical removal of the spleen (splenectomy). While effective in reducing the risk of bleeding, splenectomy further increases the risk of serious infection with a variety of organisms. Most of the patients will require continued intravenous antibiotic and/or gammaglobulin treatment to prevent infections. Platelet transfusions are not without problems, since repeated transfusions are likely to stimulate the formation of platelet antibodies. The standard drugs for thrombocytopenia, corticosteroids and immunosuppressants, have no role in the treatment of Wiskott-Aldrich Syndrome since these drugs cause a further decrease in immune function.
Vincristine may be a useful drug in the treatment of cancer associated with this disorder, since it has anti-tumor activity and helps improve platelet function. Vincristine does not suppress the immune system.
Infectious disease in children with Wiskott-Aldrich Syndrome requires vigorous therapy with antifungal, antibiotic, and supportive measures. Pneumonia caused by Pneumocystis carinii can be particularly difficult to treat; the 2 drugs usually used are trimethoprim-sulfamethoxazole and pentamidine isethionate. (For more information on treatment of P. carinii pneumonia, choose "AIDS" as your search term in the Rare Disease Database.) Cytomegalovirus and generalized herpes simplex infections may be treated with acyclovir, ganciclovir (DHPG), idoxuridine, floxuridine, or cytarabine. Severe Candida and related fungal infections usually respond well to amphotericin B therapy. (For more information on this disorder, choose "Cytomegalovirus" as your search term in the Rare Disease Database.)
Prevention of infection is extremely important. Every attempt should be made to protect people with Wiskott-Aldrich Syndrome from infectious disease. Immunization with live virus vaccines should probably be avoided.
Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
Scientists are studying the role and functions of genes through the National Institutes of Health's Human Genome Project. It is hoped that they may identify the protein that is defective in Wiskott-Aldrich Syndrome so that a treatment may be developed to correct the genetic abnormality that causes this disorder.
This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Wiskott-Aldrich Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Immune Deficiency Foundation
3565 Ellicott Mill Drive, Unit B2
Ellicott City, MD 21043
(800) 296-4433
(410) 461-3127
NIH/National Institute of Allergy and Infectious Diseases (NIAID)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
NIH/National Cancer Institute (NCI)
9000 Rockville Pike, Bldg. 31, Rm. 1A2A
Bethesda, MD 20892
(800) 4-CANCER
The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To access this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment.
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1781-83.
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1451-52, 1578.
THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 305, 315.
HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., 1990. Pp. 964-969.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 963-64.
NELSON TEXTBOOK OF PEDIATRICS, 14th Ed.; Richard E. Behrman et al; W.B. Saunders Co., 1992. Pp. 555, 1280.
IMMUNODEFICIENCY. Buckley, R.H. J Allergy Clin Immunol Dec 1983; 72(6):627-641.
WISKOTT-ALDRICH SYNDROME: NEW MOLECULAR AND BIOCHEMICAL INSIGHTS. M.
Peacocke; J Am Acad Dermatol (Oct 1992; 27(4)). Pp. 507-19.
EVIDENCE FOR DEFECTIVE TRANSMEMBRANE SIGNALING IN B CELLS FROM PATIENTS
WITH WISKOTT-ALDRICH SYNDROME. H.U. Simon; J Clin Invest (Oct 1992; 90(4)). Pp. 1396-405.
EARLY BONE MARROW TRANSPLANTATION IN AN INFANT WITH WISKOTT-ALDRICH
SYNDROME. L.J. Beard; Am J Pediatr Hematol Oncol (Fall 1992; 13(3)). Pp. 310-14.
BONE MARROW TRANSPLANTATION FOR GENETIC DISORDERS. J.A. Brochstein; Oncology (March 1992; 6(3)). Pp. 51-58, 63-66.
Wiskott-Aldrich Syndrome iss
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Copyright (C) 1989, 1992 National Organization for Rare Disorders, Inc.
622: Wolf-Hirschhorn Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Wolf-Hirschhorn Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
WHS
Wolf Syndrome
Wolf-Hirschhorn Chromosome Region (WHCR)
Four-p (4p) Syndrome
Chromosome Number 4 Short Arm Deletion Syndrome
Information on the following diseases can be found in the Related Disorders section of this report:
Cri-du-Chat Syndrome
Down Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Wolf-Hirschhorn Syndrome is a chromosomal disorder caused by a partial deletion of chromosome 4. Major symptoms may include extremely wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures.
Symptoms
Wolf-Hirschhorn patients may have the following symptoms: low birth weight, growth retardation and deficiency, delayed bone age, unusually small head (microcephaly), and undescended testicles (cryptorchidism). Failure to thrive, reduced muscle tension (hypotonicity), mental and psychomotor retardation, seizures, and precocious puberty may also occur.
Children with this syndrome have protruding wide-set eyes and one eye may be angled either inward or outward (strabismus). Droopy eyelids (ptosis), eye defects (coloboma), iris deformity, slanted eyelid slits (oblique palpebral fissures), excess skin over the inner corner of the eyes (epicanthic folds), and defects of the middle half of the eyebrow may also occur. There may be an unusual bump on the forehead above the nose (prominent glabella), and a broad or beaked nose.
Cleft lip, cleft palate, a short groove in the midline above the upper lip (philtrum), short upper lip, and downturned 'fish-like' mouth may occur. Small jaws (micrognathia) and low-set ears with a dimple may also be present. Underdeveloped 'fingerprints' (dermal ridges), a double loop on thumb, creases across the palms (simian creases), and highly curved upward (hyperconvex) fingernails may occur. WHS patients may have permanently flexed soles so that walking is done on the toes. There may be heart (cardiac) and kidney (renal) defects, and susceptibility to lung (pulmonary) infections. The urethra (the tube leading from the bladder) may open underneath the penis (hypospadias) or the urethra may open into the vagina. The pubic bone (part of the pelvis) may be underdeveloped.
Causes
Wolf-Hirschhorn Syndrome is caused by a partial deletion of the short arm of chromosome 4. The missing part of this chromosome may be as little as 20 percent. The chromosomes of a parent may show a translocation (an exchange of parts between chromosomes) that may have precipitated the deletion in their offspring.
Affected Population
Wolf-Hirschhorn Syndrome is a rare disorder that is present at birth. It affects males and females in equal numbers.
Related Disorders
Syndromes involving deletions of other chromosomes may be similar to Wolf-Hirschhorn Syndrome. Comparisons may be useful for a differential diagnosis:
Cri-du-Chat Syndrome is a congenital chromosomal disorder that involves a partial deletion of chromosome 5. It is similar to the Wolf-Hirschhorn Syndrome, with additional features such as a high, shrill cry. Patients may also have defects in the urinary and reproductive organs (urogenital tract), curvature of the spine (scoliosis), shortened bones in the feet, premature graying, and severe breathing (respiratory) and feeding problems. (For more information on this disorder, choose "Cri du Chat" as your search term in the Rare Disease Database).
Chromosomal disorders that involve extra chromosomes (trisomy) may also be similar to Wolf-Hirschhorn Syndrome. (For more information on these disorders, choose "Trisomy," "Trisomy 13," and "Trisomy 18" as your search terms in the Rare Disease Database).
Down Syndrome is a congenital chromosomal disorder involving three copies of chromosome 21. Hypotonia, small stature with awkward gait, and mental deficiency are major symptoms. There also may be inner epicanthic folds around the eyes, iris deformities, small ears with no lobes, and tooth defects. A small nose, flat face, short neck, small hands and fingers, and simian creases of the hands may also occur. Heart defects, dry skin, sparse hair, small penis, and infertility are common symptoms. Seizures, protruding eyes, low placement of ears, and undescended testicles are less frequent symptoms. (For more information on this disorder, choose "Down" as your search term in the Rare Disease Database).
Therapies: Standard
Wolf-Hirschhorn patients may benefit from reconstructive surgery for cleft lip and palate. Special education, physical therapy, and vocational services may be of benefit for the patient. Genetic counseling may be of benefit for families of children with Wolf-Hirschhorn Syndrome. Other treatment is symptomatic and supportive.
Therapies: Investigational
A study is being undertaken to study genes associsted with Wolf-Hirschhorn Syndrome people. For more information, interested care-givers may wish to contact:
Gilbert N. Jones, III or Susan A. Guckenberger
Southern Illinois University School of Medicine
Dept. of Pediatrics
Genetics and Metabolism
P.O. Box 19230
Springfield, IL 62794-9230
(217) 782-8460
This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Wolf-Hirschorn Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Parent Support Group for Wolf-Hirschhorn Syndrome
3200 Rivanna Ct.
Woodbridge, VA 22192
(703) 491-0309
Chromosome Deletion Outreach
P.O. Box 164
Holtsville, NY 11742
(516) 736-6754
National Institute of Child Health & Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For Genetic Information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 770.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones; W.B. Saunders Company, 1988. Pp. 38-39.
Wolf-Hirschhorn Syndrome
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`%N%Copyright (C) 1989, 1991 National Organization for Rare Disorders, Inc.
644: Wolff-Parkinson-White Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Wolff-Parkinson-White Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
WPW Syndrome
Preexcitation Syndrome
Accessory Atrioventricular Pathways
Information on the following diseases can be found in the Related Disorders section of this report:
Lown-Ganong-Levine Syndrome
Sinus Tachycardia
Sick Sinus Syndrome
Atrial Ectopic Tachycardia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Wolff-Parkinson-White Syndrome (WPW) is a genetic disorder involving irregularities in the heartbeat (cardiac arrhythmia). Wolff-Parkinson-White patients have an extra conduction pathway in the heart, called the Bundle of Kent, which excessively stimulates the ventricles. Palpitations (sensation of rapid or irregular beating of the heart), weakness, and shortness of breath may occur.
Symptoms
Symptoms of Wolff-Parkinson-White patients are caused by the Bundle of Kent causing abnormal heartbeats such as atrial flutter, atrial fibrillation, or paroxysmal supraventricular tachycardia. In atrial flutter, atriums of the heart contract (tachycardia) more than the ventricles; atrial fibrillation is a 'twitching' of the atriums instead of regular contractions. This in turn causes the ventricles to respond irregularly. Symptoms that can occur from atrial flutter and fibrillation may include irregular pulse, palpitations (rapid heartbeat), lack of normal skin color (pallor), nausea, weakness, faintness (syncope), and fatigue. Paroxysmal supraventricular tachycardia is a condition in which the heart rate suddenly increases to 100 to 200 beats per minute. A sudden, rapid, regular fluttering sensation and tightness in the chest may occur. Patients may also experience weakness, faintness, palpitations, frequent urination (polyuria), and shortness of breath. Attacks of chest pain (angina) may occur in older patients.
Causes
Wolff-Parkinson-White Syndrome is inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.)
The normal heart has one conduction pathway (the Bundle of His) that transmits electrical impulses from the small chambers of the heart (the atriums or atria) to the large chambers of the heart (the ventricles). These electrical impulses cause the atriums then the ventricles to contract and relax, pumping blood throughout the body. Wolff-Parkinson-White patients have an additional conduction pathway, the Bundle of Kent, which sends extra electrical impulses from the atriums to the ventricles. These extra electrical impulses disrupt the normal beating of the heart to cause atrial flutter, atrial fibrillation, or paroxysmal supraventricular tachycardia.
Affected Population
Wolff-Parkinson-White Syndrome is a rare disorder that is present at birth (congenital). It affects males and females in equal numbers, and symptoms can occur at any age.
Related Disorders
Symptoms of the following heart disorders can be similar to those of Wolff-Parkinson-White Syndrome. Comparisons may be useful for a differential diagnosis:
Lown-Ganong-Levine (LGL) Syndrome is a genetic disorder involving irregularities in the heartbeat (cardiac arrhythmia) that are slightly different from Wolff-Parkinson-White. The ventricles receive part or all of their electrical impulses from an irregular conduction pathway instead of from the Bundle of His. If LGL patients have atrial flutter, atrial fibrillation, or paroxysmal atrial arrhythmias, then palpitations, faintness, weakness, and nausea may occur as they do in Wolff-Parkinson-White Syndrome.
Sinus Tachycardia is a cardiac arrhythmia that causes the heartbeat to gradually increase to over 100 beats per minute. Sinus Tachycardia may be caused by emotional stress, exercise, infection, and certain drugs.
Sick Sinus Syndrome is a cardiac arrhythmia characterized by irregular atrium activity. Excessively slow heart beat (bradycardia) and rapid heart beat (tachycardia) usually occur. Gradual supraventricular tachycardia, atrial flutter, and atrial fibrillation may also occur. Palpitations, weakness, faintness, and nausea are common symptoms.
Atrial Ectopic Tachycardia is rapid beating of the heart that usually occurs gradually. It is the result of premature electrical impulses located within the middle layer of the atrium (atrial myocardium). Rapid, regular fluttering sensations and tightness in the chest may occur. Palpitations, weakness, faintness, shortness of breath, and polyuria (increased urination) may also occur.
Therapies: Standard
The electrocardiogram (ECG) is a diagnostic test for Wolff-Parkinson-White Syndrome. This machine records the changes of electrical impulses that cross the heart. The ECG in Wolff-Parkinson-White patients shows particular abnormalities. Diagnosis may also be made with His Bundle Electrocardiography.
Drug therapy, surgical treatment, and external electric shock (DC conversion) may be effective in treating the irregularities in the heart beat of Wolff-Parkinson-White Syndrome.
Quinidine and procainamide are antiarrhthymic drugs that may help control atrial flutter, fibrillation, and paroxysmal supraventricular tachycardia (PSVT). PSVT's may also be controlled by cardiac drugs such as digoxin and disopyramide, or by the sympathetic agents metaraminol and phenylephrine.
Surgical implantation of a cardiac pacemaker may control the rapid heartbeat in PSVT's.
Application of external electric shock (DC conversion) to the body may convert atrial flutter and fibrillation and PSVT's into regular heartbeats.
Emergency treatment of PSVT's may also involve lying down, stimulation of gagging or vomiting, Valsalva's maneuver, or carotid sinus massage.
Any treatment should be used with extreme caution since it may increase rather than decrease the irregularities in the heartbeat. Radiofrequency current (a less powerful type) is also being used to eliminate tachycardia in Wolff-Parkinson-White patients.
Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
The drug Edrophonium, may be helpful in treatment of paroxysmal supraventricular tachycardia (PSVT) in Wolff-Parkinson-White patients, but it has not yet been approved by the Food and Drug Administration (FDA).
Researchers are investigating propranolol, a noradrenaline blocking drug, that may be useful in preventing atrial flutter, fibrillation, and PSVT's. Adenosine triphosphate (ATP), a natural molecule in the body used to store energy, is being investigated as a treatment for PSVT's and to prevent extra stimulation of the ventricles by the Bundle of Kent.
Flecainide, an antiarrhythmic drug, is also being studied to treat PSVT's in Wolff-Parkinson-White patients.
This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Wolff-Parkinson-White Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
American Heart Association
7320 Greenville Avenue
Dallas, TX 75231
(214) 750-5300
NIH/National Heart, Blood & Lung Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 771.
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 375-394.
COMPARATIVE QUANTITATIVE ELECTROPHYSIOLOGIC EFFECTS OF ADENOSINE
TRIPHOSPHATE ON THE SINUS NODE AND ATRIOVENTRICULAR NODE: A.D. Sharma & G.J. Klein; Am J Cardiol (February 1, 1988: issue 61(4)). Pp. 330-335.
Wolff-Parkinson-White Syndromem&
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HCopyright (C) 1990 National Organization for Rare Disorders, Inc.
850: Wolfram Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Wolfram Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate name and disorder subdivisions covered by this article.
Information on the following diseases can be found in the Related Disorders section of this report:
Pernicious Anemia
Chronic Granulomatous Disease
Myelofibrosis-Osteosclerosis
Vitamin B-12 Deficiency
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Wolfram Syndrome is a rare, congenital, multi-system disorder caused by an abnormality of thiamine (a form of vitamin B) metabolism. Diabetes insipidus, diabetes mellitus, vision and hearing defects are the main symptoms associated with this syndrome. Disorders of the urinary tract are also often present. Wolfram Syndrome affects males and females equally and is inherited as a autosomal recessive trait.
Symptoms
Symptoms of Wolfram Syndrome are:
1. Insulin-Dependent Diabetes Mellitus usually occurs as the first symptom of Wolfram Syndrome. This type of diabetes generally starts during childhood or adolescence. The starches and sugars (carbohydrates) in the foods we eat are normally processed by digestive juices into glucose. The glucose circulates in the blood as a major energy source for body functions. A hormone produced by the pancreas (insulin) regulates the body's use of glucose. In Diabetes Mellitus the pancreas does not manufacture the correct amount of insulin needed to metabolize sugar. As a result, the patient needs daily injections of insulin to regulate blood sugar levels. Symptoms of Diabetes Mellitus may be frequent urination, extreme thirst, constant hunger, weight loss, itching of the skin, changes in vision, slow healing of cuts and bruises, and in children there is a failure to grow and develop normally. (For more information on this disorder choose "Diabetes Mellitus" as your search term in the Rare Disease Database).
2. Primary Optic Atrophy is vision failure caused by wasting away of the nerves that conduct visual stimuli to the brain (optic nerve). The part of the eye devoid of light receptors has sharp edges, a saucer shaped cavity and appears white or grayish to an eye doctor. Patients with Wolfram Syndrome may develop primary optic atrophy at any age.
3. Diabetes Insipidus is not related to diabetes or insulin. The only thing it has in common with diabetes is the symptoms of excessive thirst and urination. In Diabetes Insipidus there is an abnormality of anti-diuretic hormone (vasopressin or ADH) in the pituitary gland. The effect of this abnormal hormone on the kidney causes excessive excretion of large quantities of very dilute urine. Excessive thirst is the major symptom of this disorder. Patients tend to drink enormous quantities of fluid, and they urinate very often. Other symptoms may be dehydration, weakness, dryness of the mouth and skin, and constipation may develop rapidly if the loss of fluid is not continuously replaced. (For more information on this disorder choose "Diabetes Insipidus" as your search term in the Rare Disease Database).
4. Deafness is the fourth major symptom of Wolfram Syndrome. The hearing loss may occur at any time, and may be partial or complete. In some patients the hearing loss may be due to a loss of sense perception transmitted by nerves (sensorineural). Other symptoms may be severe hearing loss, loss of sound intensity or pitch, or loss of the ability to hear high tones.
Some (but not all) of the following additional symptoms may be present in patients with Wolfram Syndrome:
5. Dilatation (widening) of the urinary tract.
6. Megaloblastic Anemia is a blood disorder in which there are large, abnormal, immature red blood cells (megaloblasts). The main symptoms of this disorder are diarrhea, vomiting, lack of appetite (anorexia), and weight loss. Lesions in the gastrointestinal tract may cause difficulty with the absorption of food. Enlargement of the liver and spleen may also occur along with yellow discoloration of the skin (jaundice). (For more information on this disorder choose "Megaloblastic Anemia" as your search term in the Rare Disease Database).
7. Sideroblastic Anemia refers to a group of blood disorders that are characterized by an impaired ability of the bone marrow to produce normal red blood cells. Abnormal red blood cells called sideroblasts can be found in the blood. The main symptoms of this disorder are weakness, fatigue and difficulty breathing. (For more information on this disorder choose "Sideroblastic Anemia" as your search tern in the Rare Disease Database).
8. Neutropenia may also be present in Wolfram Syndrome. Neutropenia is a blood disorder in which the bone marrow does not produce white blood cells containing granules called "neutrophils". This disorder often makes the patient more susceptible to infections from fungus and bacteria. Fever, infection and an enlarged spleen may be present. (For more information on this disorder choose "Neutropenia" as your search term in the Rare Disease Database).
9. Thrombocytopenia is a disorder in which there is an abnormally small number of platelets in the circulating blood. These platelets are the part of the blood that helps in clotting. Major symptoms of Thrombocytopenia may be excessive bleeding in the skin or mucous membranes, sudden nosebleeds and easy bruising. (For more information on this disorder choose "Essential Thrombocytopenia" as your search term in the Rare Disease Database).
10. Diabetic Retinopathy is a disorder of the light sensitive tissue of the eye (retina) caused by diabetes. Unchecked it may lead to visual impairment or blindness. (For more information on this disorder choose "Diabetic Retinopathy" as your search term in the Rare Disease Database).
11. Other symptoms of Wolfram Syndrome may be severe depression, and impulsive verbal and physical aggression.
Causes
Wolfram Syndrome is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes one received from the father and one from the mother.
In recessive disorders, the condition does not appear unless a person inherits the same defective gene from the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.
The inherited abnormality of thiamine metabolism is responsible for the symptoms of Wolfram Syndrome. Thiamine is a vitamin of the B complex that is found in tissue and is essential for conversion of carbohydrates to fat, as well as nervous system functioning. When there is an abnormally low amount of thiamine in the body, fat metabolism (which produces and maintains changes in cells and provides the body with energy) does not function properly.
Affected Population
Wolfram Syndrome affects males and females in equal numbers. The symptoms of this disorder may appear at any age from infancy to early adulthood.
Related Disorders
Symptoms of the following disorders can occur as part of Wolfram Syndrome or be similar to symptoms of Wolfram Syndrome:
Pernicious Anemia (Vitamin B-12 Deficiency Anemia) is a blood disorder resulting from an impaired absorption of vitamin B-12. This vitamin is used in the production of red blood cells. Healthy individuals absorb sufficient amounts of vitamin B-12 in their normal diet with the help of a substance secreted by the stomach called intrinsic factor. Patients with Pernicious Anemia generally lack intrinsic factor and cannot absorb sufficient amounts of vitamin B-12. Symptoms of vitamin B-12 Deficiency usually appear years after absorption of the vitamin ceases because B-12 is stored in large quantities in the liver. (For more information on this disorder choose "Pernicious Anemia" as your search term in the Rare Disease Database).
Chronic Granulomatous Disease is a rare blood disorder which affects certain white blood cells called lymphocytes. This disorder is characterized by an inability to resist infection and widespread growth of tumor-like lesions. (For more information on this disorder, choose "Chronic Granulomatosis " as your search term in the Rare Disease Database).
Myelofibrosis-Osteosclerosis is a disorder characterized by proliferation of fibrous tissue in the bone marrow causing anemia, weakness and fatigue due to low levels of red blood cells. Severe pain in the bones and joints may occur. (For more information on this disorder, choose "Myelofibrosis" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Wolfram Syndrome is symptomatic and supportive. When treated with thiamine (a vitamin of the B complex), patients with Wolfram Syndrome usually decrease their requirements for insulin, and blood findings such as anemia can return to normal.
Diabetes Mellitus may be controlled with a daily routine of insulin injections, controlled diet, exercise to burn off glucose, and frequent testing for blood sugar levels. Urine testing for glucose spillage has been a standard recommendation in past years, but has now been replaced with self blood glucose testing. Self monitoring of blood glucose levels uses a single drop of blood which is obtained with a finger stick, and placed on a chemically treated pad on a plastic strip; the color change of the chemically treated pad is compared to a color chart or read by a battery operated portable meter.
Hormone therapy may be beneficial to Wolfram Syndrome patients with Diabetes Insipidus. If a lesion is found it may be eradicated in some cases. Otherwise, effective control of Diabetes Insipidus may be obtained with several prescription medications of the vasopressin hormone (ADH) which are commercially available. These include Lypressin (a synthetic vasopressin as a nasal spray) and Desmopressin Acetate (a longer acting synthetic ADH substitute). Both of these drugs may be inhaled or blown high into the nasal passages with a machine known as an insufflator. In some patients nasal irritation may be a limiting factor with this form of treatment.
Two types of drugs have been found useful in reducing excessive urination due to Diabetes Insipidus. These include various diuretics (primarily thiazides), and the ADH releasing drugs (including chlorpropamide, carbamazepine and colfibrate). These drugs reduce urine volume by reducing extra cellular fluid volume while increasing use of the natural vasopressin hormone. These drugs may reduce or eliminate the need for vasopressin in some patients.
Hypoglycemia may be a significant adverse reaction to Chlorpropamide therapy. If this occurs, partial or total substitution with Clofibrate or Carbamazepine is sometimes suggested. Because the effects of these three drugs differ from those of the thiazides, the use of one of these agents with a diuretic may show additive effects and be of benefit to some patients.
Desmopressin Acetate (DDAVP) nasal spray was approved by the FDA as a treatment for Diabetes Insipidus in 1989. This drug appears to offer enhanced antidiuretic activity with minimal adverse effects on the vascular system or smooth muscles of Diabetes Insipidus patients. This drug is also available in injectable form.
To remove excess iron from the body of persons with Sideroblastic Anemia, the drug desferrioxamine (D.F.) is infused under the skin or injected into a muscle, often with good results. A combination of desferrioxamine with ascorbate has been even more effective in removing excess iron from the body in many cases.
Some forms of Sideroblastic Anemia may respond well to treatment with pyridoxine, while other types do not respond at all.
For patients with Chronic Neutropenia, the infections associated with this disorder are usually managed with antibiotics. Some patients may benefit from glucocorticoids, a group of anti-inflammatory drugs that suppress the immune system. Intravenous immunoglobulin, the protein part of the blood that is rich in antibodies, is usually prescribed to control this disorder.
The orphan drug Neupogen was approved by the FDA in 1991 for use in the treatment of Chronic Neutropenia. It is manufactured by:
Amgem, Inc.
1840 Dehavilland Drive
Thousand Oaks, CA 91320-1789
Thrombocytopenia is treated by transfusions of normal blood platelets to control bleeding. Intravenous immunoglobulin may be given to increase platelet production. In rare cases Thrombocytopenia may necessitate the removal of the spleen.
For patients with Diabetic Retinopathy, normalization of glucose levels in diabetic patients can help reverse changes in the small blood vessels of the eye. If normal glucose levels can be maintained, this complication of diabetes can be avoided.
Treatment with a laser can reduce the risk of visual loss from Diabetic Retinopathy in many cases. During this treatment, called photocoagulation, powerful beams of light from a laser are aimed at many spots on the diseased retina. In most cases, this treatment can interrupt the disease process and prevent the development of additional retinal abnormalities. Some patients may experience unwanted side effects such as decreased central and side vision.
Genetic counseling may be of benefit for Wolfram Syndrome patients and their families.
Therapies: Investigational
In recent years research supported by the National Institute of Diabetes, Digestive and Kidney Diseases (NIDDK), and other components of the National Institutes of Health, and non-profit agencies (see resources) that fund scientific research on diabetes has yielded new and exciting information on the possible causes and improved management of diabetes and its complications. Scientists have now identified genetic factors that appear to make a person vulnerable to Diabetes- a finding that could lead to methods of prevention of the disorder in genetically susceptible persons. In related studies, the discovery that the insulin-producing beta cells can be infected and destroyed by common viruses could eventually result in the development of a vaccine to prevent diabetes.
For patients with Neutropenia, colony-stimulating factor therapy (a type of drug that stimulates the production of blood cells that enhance the function of mature leukocytes) is being tested. Granulocyte macrophage colony stimulating factor (GM-CSF) is a protein derived from bacteria, yeast and mammalian cells. It is being developed by Schering Plough and Sandoz Pharmaceuticals under the brand name Leucomax.
Plasmapheresis can be of benefit in some cases of Neutropenia. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patients plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze long-term effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Neutropenia.
This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on this disorder, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
203-746-6518
Diabetes Insipidus & Related Disorders Network
RT #2, Box 198
Creston, IA 50801
(515) 782-7838
American Diabetes Association, National Service Center
1660 Duke Street
Alexandria, VA 22314
(703) 549-1000
(800) 232-3472
Juvenile Diabetes Foundation International
60 Madison Avenue, 4th Floor
New York, NY 10010
(212) 889-7575
National Diabetes Information Clearinghouse
Box NDIC
Bethesda, MD 20892
(301) 468-2162
NIH/National Eye Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5583
National Association for the Visually Handicapped
305 East 24th Street, Room 17-C
New York, NY 10010
(212) 889-3141
Vision Foundation, Inc.
818 Mt. Auburn Street
Watertown, MA 02172
(617) 926-4232
(800) 852-3029 (within Massachusetts
NIH/National Heart, Lung and Blood Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
914-428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1140.
THIAMINE-RESPONSIVE ANEMIA IN DIDMOAD SYNDROME. B. Pignatti, et al.; J Pediatr (March, 1989, issue 114(3)). Pp. 405-10.
DIDMOAD SYNDROME WITH MEGACYSTIS AND MEGAURETER. P. Chu, et al.; Postgrad Med J (Sept, 1986, issue 62(731)). Pp. 859-63.
Wolfram Syndrome
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Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.
588: Wyburn-Mason Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Wyburn-Mason Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Cerebroretinal Arteriovenous Aneurysm
Information on the following diseases can be found in the Related Disorders section of this report:
Bonnet-Dechance-Blanc Syndrome
Sturge-Weber Syndrome
Von Hippel-Lindau Disease
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Wyburn-Mason Syndrome is a rare genetic disorder that usually affects the brain, eyes and skin. Major symptoms may include discolored patches on the skin, and ballooned areas in the arteries (aneurysms) of the brain and eyes.
Symptoms
Wyburn-Mason Syndrome is usually present at birth but does not become apparent until one reaches the thirties. The onset can be either sudden or gradual. Usually vision is lost in one eye. This may be accompanied by severe headache, vomiting, and the sudden bulging of the affected eye. If an aneurysm occurs in the midbrain it may result in a stiff neck, symptoms of meningitis, loss of consciousness, ringing in the ears (tinnitus), deafness, loss of speech (aphasia) and other signs of neurologic deterioration. There are usually areas of discolored skin (nevi) around the affected eye.
Causes
The exact cause of Wyburn-Mason Syndrome is not known. It may be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.)
Affected Population
Wyburn-Mason Syndrome is a very rare disorder that affects males more often than females.
Related Disorders
Symptoms of the following disorders can be similar to those of Wyburn-Mason Syndrome. Comparisons may be useful for a differential diagnosis:
Bonnet-Dechance-Blanc Syndrome is characterized by congenital nonmalignant bulges in the veins (aneurysms) of the retina, thalamus, and midbrain. It occurs in early childhood and is often accompanied by mental deterioration.
Von Hippel-Lindau Disease usually begins during young adulthood but may appear as early as the age of eight. It is characterized by headaches, dizziness and failure of muscular coordination (ataxia). Unreasonable behavior may also occur. Enlarged and twisted blood vessels may occur in the retina. Bulges in the blood vessels (aneurysms) may develop. Tumors of the adrenal glands may be present as well. (For more information on this disorder, choose "Von Hippel-Lindau" as your search term in the Rare Disease Database.)
Sturge-Weber Syndrome is a hereditary disorder in which a port wine colored stain (angioma) on the face and intracranial abnormalities are present at birth. Generalized seizures and additional neurological symptoms usually occur between 1-2 years of age. Vascular lesions in the brain usually involve the occipital or parieto-occipital regions. (For more information on this disorder, choose "Sturge-Weber" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Wyburn-Mason is symptomatic and supportive. Surgery may be recommended to repair aneurysms of the brain or eye. Genetic counseling may be of benefit for patients and their families.
Therapies: Investigational
This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Wyburn-Mason Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
For Genetic Information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
WYBURN-MASON SYNDROME SUBCUTANEOUS ANGIOMA EXTIRPATION AFTER PRELIMINARY
EMBOLISATION, R.J. de Keizer, et al, Doc Ophthalmod ( March 20, 1981, issue 50 (2)). Pp. 263-273.
COMBINED PHAKOMATOSES; A CASE REPORT OF STURGE-WEBER AND WYBURN-MASON
SYNDROME OCCURRING IN THE SAME INDIVIDUAL. J.B. Ward, et al.; Ann Ophthalmol (December, 1983, issue 15 (12)). Pp. 1112-1116.
Wyburn-Mason Syndrome
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${$Copyright (C) 1991 National Organization for Rare Disorders, Inc.
797: X-linked Juvenile Retinoschisis
_________________________
** IMPORTANT **
It is possible that the main title of the article (X-linked Juvenile Retinoschisis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
RS
Juvenile Retinoschisis
X-linked Retinoschisis
Information on the following disorders can be found in the Related Disorders section of this report:
Familial Foveal Retinoschisis
Macular Degeneration
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
X-linked Juvenile Retinoschisis (RS) is a genetic disorder affecting males. Major symptoms may include poor eyesight and degeneration of the retina. The retina consists of membrane layers in the eye that receive visual images after passing through the lens. It is composed of supportive and protective structures, nervous system components and layers including "rods" and "cones". RS is due to splitting of the retina which in turn causes slow, progressive loss of parts of the fields of vision corresponding to the areas of the retina which have become split. Often, RS is associated with the development of cysts (sac-like blisters) in the retina.
Symptoms
Symptoms of X-linked Juvenile Retinoschisis (RS) may include poor eyesight, detachment of all or part of the retina from the rest of the eye, and eventually complete retinal atrophy (wasting away) with hardening of the choroid (the membrane between the white part of the eye and the retina).
The patient may develop cysts in the macula (an oval area of the retina) and other areas of the retina. The cysts lead to splits within the retina. The cystic manifestations may also appear in other family members. Bleeding within the eye may occur.
Problems with vision are usually mild up until the age of 40 or 50, after which the condition may slowly worsen.
Causes
X-linked Juvenile Retinoschisis (RS) is inherited as an X-linked recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.
Affected Population
X-linked Juvenile Retinoschisis (RS) is a rare disorder present at birth. The disorder affects males. Men of Finnish heritage are affected more often than those of other heritages. Until the age of 40 or 50, visual handicap is usually mild.
Related Disorders
Symptoms of the following disorders can be similar to those of X-linked Juvenile Retinoschisis (RS).
Familial Foveal Retinoschisis is another type of Juvenile Retinoschisis which involves splitting of tissue within the fovea (the center of the macula and the area of clearest vision) of the retina. It is very similar to X-linked Juvenile RS, but the changes in the retina are not as severe. A completely blind area (scotoma), with a sharp edge in the area where splitting occurs, is evident in the patient's visual field. Foveal RS can also occur in patients with X-linked Juvenile RS. (For more information on this disorder, choose "retinoschisis" as your search term in the Rare Disease Database).
Macular Degeneration (MD) is characterized by a gradual decrease of vision. It is inherited as a dominant trait. MD can be a static condition for many years, but then becomes slowly progressive with age. Central vision is impaired or absent in MD while peripheral vision remains normal. A vision disturbance in which shapes seem distorted or changing (metamorphopsia) can occur. An area of depressed vision within the visual field surrounded by an area of normal vision (central scotoma) is also symptomatic of this disorder.
Polymorphic Macular Degeneration (PMD) is a dominant hereditary vision disorder which includes Best Disease and Sorsby Disease. PMD usually affects the macular region in both eyes. In Sorsby Disease swelling (edema), hemorrhage, and cyst formation are noted. The cysts may vary in size and appearance. The cystic manifestations may also appear in other family members. In advanced stages considerable atrophy occurs. In Best Disease, changes in the macular region, as well as other areas of the eye, may be noted before visual impairment occurs. The macular area may show a yellow mass resembling the yolk of an egg. This lesion may possibly be present at birth. Deep irregular pigmentation inside the eye may develop later. (For more information on these disorders, choose "Macular Degeneration" as your search term in the Rare Disease Database).
Therapies: Standard
Diagnosis of X-linked Juvenile Retinoschisis (RS) can be made by an ophthalmologist through various tests:
Measuring visual acuity with the Snellen chart, the patient is asked to look through a pinhole to determine where on the retina a lesion may exist.
Ultrasonography or ultrasound may show abnormalities when a hemorrhage has occurred in the eye.
A recording of the electrical impulses emitted by the retina in response to light stimulus (electroretinogram; ERG) can be made. ERG's can indicate abnormalities of the retina.
A Visual Evoked Response (VER) measures slow electric potentials from the brain cortex in response to light stimulation. The VER depends on the integrity of the entire visual system from the cornea to the occipital part of the brain's cortex. The VER can detect a malfunction of the macular portion of the retina which controls central vision.
A photographic picture made with an ophthalmoscope of the back portion of the inside of the eyeball (fundus) is another way to gather information about the retina.
When bleeding occurs within the eyeball, keeping the eye still helps to reduce damage. Later, treatment with laser or cold (cryotherapy) can be applied to close off the damaged area of the retina. It is imperative to avoid jarring the head or inflicting injury to the eye to slow down the degenerative process of RS.
Genetic counseling may be of benefit for patients with X-linked Juvenile Retinoschisis and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
Sulfur Hexafluoride is an experimental medical device for treatment of patients with detached retinas. For information about clinical trials being conducted, please contact:
Airco Welding Products
575 Mountain Ave.
Murray Hill, NY 07974
This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on X-Linked Juvenile Retinoschisis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Eye Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5248
Association for Macular Disease, Inc.
210 East 64th Street
New York, NY 10021
(212) 605-3719
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 8th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1173, 1373, 1375.
AUTOSOMAL JUVENILE RETINOSCHISIS WITHOUT FOVEAL RETINOSCHISIS. S. Hara and K. Yamaguchi; Br J Ophthalmol (June 1989; issue 73 (6)). Pp. 470-473.
LINKAGE RELATIONSHIPS AND GENE ORDER AROUND THE LOCUS FOR X-LINKED
RETINOSCHISIS. T. Alitalo, et al.; Am J Hum Genet (Oct 1988; issue 43 (4)). Pp. 476-483.
USE OF LINKED DNA PROBES FOR CARRIER DETECTION AND DIAGNOSIS OF X-LINKED
JUVENILE RETINOSCHISIS. N. Dahl and U. Pettersson; Arch Ophthalmol (Oct 1988; issue 106 (10)). Pp. 1414-1416.
X-linked Juvenile Retinoschisis
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729: X-Linked Lymphoproliferative Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (X-Linked Lymphoproliferative Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Information on the following diseases can be found in the Related Disorders section of this report:
Chronic Fatigue Syndrome
Infectious Mononucleosis
Malignant Lymphoma, Non-Hodgkin's
Hypogammaglobulinemia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
X-linked Lymphoproliferative Syndrome is a very rare life-threatening genetic disease of the immune system that affects only males, making them vulnerable to death from the Epstein-Barr Virus which causes mononucleosis.
Symptoms
X-Linked Lymphoproliferative Syndrome (XLP) is a rare inherited immune deficiency. Most people are exposed to the Epstein Barr virus during childhood or adolescence, and they recover from infectious mononucleosis without long lasting effects. However, mononucleosis in males with the XLP defect can be life-threatening. Additionally, these males are susceptible to other life-threatening diseases such as lymphomas and hypogammaglobulinemia.
There are usually no symptoms of XLP until the patient contracts the Epstein-Barr virus. When this happens the person becomes extremely ill with infectious mononucleosis, or non-Hodgkin's malignant lymphoma, or hypogammaglobulinemia (an insufficient level of gammaglobulin in the body which is needed to fight off common infections). The disease can be fatal in 60 to 75% of these male patients.
Causes
The cause of X-Linked Lymphoproliferative Syndrome is thought to be a rare recessive genetic defect located on the X chromosome. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.
Scientists are still working to find the exact location of the defective gene that causes X-Linked Lymphoproliferative Syndrome.
Affected Population
X-Linked Lymphoproliferative Syndrome affects only males who carry the defective gene and who become infected by the Epstein-Barr virus. The great majority of adults in the U.S. have been exposed to the E-B virus by the time they reach adulthood. In many cases mononucleosis is very mild during childhood and is misdiagnosed as a sore throat or nonspecific viral infection. Immunity lasts throughout life once a person has been infected.
Related Disorders
The following disorders may have symptoms that are similar to mononucleosis. However, people with XLP have more intense life threatening symptoms:
Chronic Fatigue Syndrome is characterized by severe fatigue that lasts for weeks or months and is severe enough to significantly limit daily activities. Symptoms include mild fever, sore throat, painful lymph nodes in the neck or armpits, generalized weakness of muscles with pain or discomfort, headaches, joint pains that come and go, vision problems, or sleep disturbances. Symptoms often begin following a flu-like illness. The intense fatigue can mimic weakness associated with mononucleosis, but the Epstein Barr virus is not related to Chronic Fatigue Syndrome. (For more information on this disorder, choose "Chronic Fatigue" as your search term in the Rare Disease Database).
Infectious Mononucleosis is a common infectious disease caused by the Epstein-Barr virus that is also known as the "kissing disease" or "Glandular Fever." Symptoms include fever, severe fatigue, swollen lymph glands, and an abnormally large number of white blood cells in the blood. These white blood cells can look like certain leukemia cells that sometimes tests are needed to determine exactly which disease the patient has. In mild cases the disorder may not be diagnosed because it appears like a mild viral infection. In more severe cases it may take 6 to 8 weeks or longer for recovery which usually occurs without treatment.
Malignant Lymphoma is a type of cancer that appears most often in the lymph nodes, spleen, or other normal sites of lymphoreticular cells. It may invade the blood and manifest itself as leukemia. It can be located in almost any part of the body. There are many different types of Lymphoma that are classified by cell type, degrees of differentiation, and nodular pattern.
Hypogammaglobulinemia is a disorder of antibody production and/or function which cannot be attributed to some other underlying illness. Low levels of gammaglobulin leads to insufficient antibodies that are needed to resist and overcome common infections. People with this disorder are susceptible to infections that can become life-threatening due to their impaired immune system. (For more information on this disorder, choose "Agammaglobulinemia" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of X-Linked Lymphoproliferative Syndrome is symptomatic and supportive. In cases of hypogammaglobulinemia, gammaglobulin can be prescribed to boost the immune system. Genetic counseling will be of benefit for patients and their families.
Therapies: Investigational
Scientists are studying the chromosomes of X-Linked Lymphoproliferative Syndrome patients through DNA probes. It is hoped that the gene defect which causes this syndrome will be identified in the near future.
The drug recombinant interferon-gamma (IFN-gamma) is being tested as a possible treatment for XLP. More studies are necessary to determine safety and effectiveness of this treatment.
This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on X-linked Lymphoproliferative Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
Physicians may refer patients with XLP who wish to participate in genetic studies to:
Dr. James Skare
Boston University School of Medicine
Center for Human Genetics
Boston, MA 02118
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1329.
MARKERS MAPPED FOR LIFE-THREATENING DISORDER, James Skare, Research Resources Reporter, National Institutes of Health (June, 1989, issue XIII (6)). Pp. 6-7.
MALIGNANT LYMPHOMA IN THE X-LINKED LYMPHOPROLIFERATIVE SYNDROME. D.S.
Harrington, et al.; Cancer, (April 15, 1987, issue 59 (8)). Pp. 1419-1429.
EPSTEIN-BARR VIRUS INFECTIONS IN MALES WITH THE X-LINKED
LYMPHOPROLIFERATIVE SYNDROME, H. Grierson, et al.; Ann Intern Med, (April, 1987, issue 106 (4)). Pp. 538-545.
X-LINKED LYMPHOPROLIFERATIVE DISEASE: A KARYOTYPE ANALYSIS, A. Harris, et al.; Cytogenet Cell Genet, (1988, issue 47 (1-2)). Pp. 92-94.
INTERFERON-GAMMA IN A FAMILY WITH X-LINKED LYMPHOPROLIFERATIVE SYNDROME
WITH ACUTE EPSTEIN-BARR VIRUS INFECTION. M. Okano, et al.; J Clin Immunol (January, 1989, issue 9 (1)). Pp. 48-54.
X-Linked Lymphoproliferative Syndrome
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339: Xeroderma Pigmentosum
_________________________
** IMPORTANT **
It is possible the main title of the article (Xeroderma Pigmentosum) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Atrophoderma Pigmentosum
Kaposi Disease
Melanosis Lenticularis Progressiva
XP
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Xeroderma Pigmentosum is a rare autosomal recessive hereditary disorder of the skin which begins during early childhood. It is characterized by a defect in the ability of certain connective tissue cells (fibroblasts) to repair skin damaged by ultraviolet rays. The skin of people with Xeroderma Pigmentosum is markedly hypersensitive to sunlight.
Symptoms
The first sign of Xeroderma Pigmentosum is usually freckling on parts of the skin that have been exposed to sunlight. Linear or star-shaped vascular lesions (telangiectasias) may appear next. Tumors made up of small blood vessels (capillary angiomas) may occur on ear margins, the tip of the nose, and on areas where mucous tissue joins skin such as the mouth. Weakened, degenerated (atrophic) areas of the skin appear smooth, dry, and light brown.
Malignancies of the skin in people with this disorder may occur before age 5 through early adulthood. The face and skin of these children may resemble those of much older individuals. Growth retardation, dwarfism and mental retardation are also possible.
Ocular symptoms may include abnormal intolerance to light (photophobia), excessive tears in the eyes (lacrimation), inflammation of the cornea (keratitis), clouding of the lens of the eye (opacities), and tumors of the eyelid or the cornea.
Causes
Xeroderma Pigmentosum (XP) is an autosomal recessive hereditary disorder. A deficit in the ability to repair the building blocks of genes (DNA), and the inability of certain types of connective tissue cells (fibroblasts) to repair damaged skin, cause the symptoms of this disorder.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.
People with XP are markedly hypersensitive to the ultraviolet rays of sunlight which causes damage to DNA. Exposure to cancer causing agents (carcinogens) in the environment may also damage DNA. Indirectly, these agents may exacerbate XP in people who are genetically susceptible.
Affected Population
Xeroderma Pigmentosum may affect children of both sexes as early as the first year of life. Skin malignancies may appear before age 5. The disorder is more common in Japan and Egypt than in Europe and America. The disorder affects approximately 250,000 in the United States. Xeroderma Pigmentosum affects approximately one in one million people.
Related Disorders
There are many types of skin cancers, some of which are quite common.
Malignant Melanoma of the skin is a malignant tumor of melanocyte origin. These tumors may appear in different sizes, shapes, and shades of color (mostly pigmented). The tumors have a variable ability for spreading to adjacent parts of the body, or through the blood and lymph circulation to other organs.
Basal Cell Carcinomas (Rodent Ulcer) may appear as small, shiny, firm nodules; ulcerated, crusted lesions; flat, scar-like hardened plaques; or lesions difficult to differentiate from psoriasis or localized dermatitis.
Squamous Cell Carcinomas are a common form of skin cancer that usually appears on sun-exposed areas of the skin, but may occur anywhere on the body. The lesions begin as a small red elevation or plaque with a scaly or crusted surface. They may then become nodular, sometimes with a warty surface.
Therapies: Standard
Total protection of the skin from sunlight in children with Xeroderma Pigmentosum can prevent additional lesions of the skin.
Surgery, either extensive or limited, may be performed with limited success.
Other treatment of Xeroderma Pigmentosum is symptomatic and supportive.
Therapies: Investigational
Application of an experimental cream containing catalase appears to hold promise for prevention of tumors in some children with Xeroderma Pigmentosum. Ointments containing vitamin A derivatives are also being investigated. Isotretinoin (Accutane) has been known to reduce the recurrence of tumors in people with Xeroderma Pigmentosum. However, the drug is very toxic and many people cannot tolerate side effects.
T4 Endonuclease V.B. Liposome Encapsulated (T4N5) is a new orphan drug being used in the prevention of skin cancers and other skin abnormalities associated with patients diagnosed with xerodermas pigmentosum (XP). It is manufactured by Applied Genetics, Inc. 205 Buffalo Ave., Freeport, NY 11520.
This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Xeroderma Pigmentosum, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Xeroderma Pigmentosum Registry
c/o Department of Pathology
Room 520, Medical Science Bldg.
UMDNJ - New Jersey Medical School
100 Bergen Street
Newark, NJ 07103
(201) 456-6255
The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
The Skin Cancer Foundation
475 Park Avenue South
New York, NY 10016
(212) 725-5176
NIH/National Cancer Institute
9000 Rockville Pike, Bldg. 31, Rm. 1A2A
Bethesda, MD 20892
1-800-4-CANCER
The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment.
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
XERODERMA PIGMENTOSUM, DEFECTIVE DNA REPAIR--AND SCHISTOSOMIASIS?: J.
German; Annales de Genetique - Paris (1980: issue 23,2). Pp. 69-72.
MICROINJECTION OF HUMAN CELL EXTRACTS CORRECTS XERODERMA PIGMENTOSUM DEFECT:
A. J. de Jonge, et al.; EMBO Journal (1983: issue 2,5). Pp. 637-641.
Xeroderma Pigmentosum
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812: XYY Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (XYY Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
47,XYY Syndrome
47,XYY Karyotype
Polysomy Y
Diplo-Y Syndrome
YY Syndrome
XYY Chromosome Pattern
Information on the following disorders can be found in the Related Disorders section of this report:
Klinefelter Syndrome
Sotos Syndrome
Marfan Syndrome
Antisocial Personality Disorder
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
XYY Syndrome is a rare chromosomal disorder which affects males. It is caused by the presence of an extra Y chromosome. Healthy males have one X and one Y chromosome. Men with XYY Syndrome are usually very tall and thin. Many have severe acne during adolescence. Other symptoms may include lower than average intelligence and antisocial or behavioral problems.
Symptoms
Characteristics of XYY Syndrome are often subtle and do not indicate a serious chromosomal disorder. Thus, males with this condition are often undiagnosed or misdiagnosed. Major symptoms may include tall or very tall height (usually becoming apparent after the age of 5 or 6), and severe cystic acne during adolescence. (For more information on cystic acne, choose "acne" as your search term in the Rare Disease Database).
Lower than average intelligence, and/or behavioral problems (such as an explosive temper, aggressive or defiant actions, or sometimes antisocial behavior) are other symptoms. Some individuals with this disorder may have language difficulties or psychosexual problems. XYY Syndrome is often undiagnosed until tests for other medical reasons are performed. Other than being exceptionally tall and/or having behavioral problems, in many instances these boys or men appear normal.
Physical characteristics of XYY Syndrome may include an unusually long head with a slightly protrusive forehead, long hands and feet, long ears, mild indentation in the lower area of the breastbone (pectus excavatum), and/or large teeth. Poor chest and shoulder muscle development (pectoral and shoulder girdle musculature) is also common. Even though males with this syndrome are large, they tend to be weak and uncoordinated. Some may have a fine intentional tremor (e.g. their hands may shake when they try to drink a glass of water).
Occasionally, a bony formation across the joints in the two bones of the forearm resulting in stiffening of the affected joints (radioulnar synostosis) may occur. Other occasional symptoms are undescended testicles (cryptorchidism), a small penis, or an opening located on the underside of the penis (hypospadias).
For a long time it was believed that XYY Syndrome individuals had aggressive tendencies often associated with criminal behavior due to the extra Y chromosome. Epidemiological studies suggest that one out of every 35 institutionalized male juvenile delinquents has XYY Syndrome. However, it is now believed by some researchers that this behavior is not due to the extra Y chromosome, but rather to the lower than average intelligence and education levels of these men. More research is needed to understand the role of this chromosomal abnormality on behavior.
Causes
XYY Syndrome is a genetic disorder caused by the presence of an extra Y chromosome. Normal males have 46 chromosomes including one X and one Y chromosome. Men with XYY Syndrome have 47 chromosomes, two of which are Y chromosomes. Why the extra Y chromosome occurs is not known. In very rare instances, the syndrome has been passed from father to son, but in most cases heredity cannot be established.
Affected Population
XYY Syndrome is a chromosomal disorder present at birth that affects only males. It is estimated to occur in approximately 1 of 1000 live births.
Related Disorders
Symptoms of the following disorders can be similar to those of XYY Syndrome. Comparisons may be useful for a differential diagnosis:
Klinefelter Syndrome is characterized by the presence of one or more extra x-chromosomes. It affects only males. Individuals with this syndrome tend to be tall and slim in childhood. A striking lack of muscular development, and a small penis and testicles may also occur. Lower than average intelligence, language difficulties, intention tremor, and behavioral problems may be other symptoms. (For more information on this disorder, choose "Klinefelter" as your search term in the Rare Disease Database).
Sotos Syndrome is a rare, hereditary disorder characterized by excessive growth during the first 4 to 5 years of life. Other symptoms may include an unusual aggressiveness or irritability, clumsiness and an awkward way of walking. People with this disorder have abnormal patterns of the ridges on the skin of the fingers, palms, toes and soles (dermatoglyphics). Patients have a disproportionately large and long head, with a slightly protrusive forehead, large hands and feet. Mild mental retardation may also occur. (For more information on this disorder, choose "Soto" as your search term in the Rare Disease Database).
Marfan Syndrome is an inherited disorder of the connective tissues. People with this disorder tend to be unusually tall and thin with large hands and feet. The face may appear long, and the breastbone may be protruding or indented. They may walk with an irregular or unsteady gait. People with Marfan Syndrome have normal intelligence, and they do not have any behavioral symptoms. (For more information on this disorder, choose "Marfan" as your search term in the Rare Disease Database).
Antisocial Personality Disorder is a mental illness characterized in early childhood by behavior such as lying, stealing, fighting, truancy and resisting authority. During adolescence, there may be excessive drinking, use of illicit drugs and aggressive sexual behavior. The behavioral difficulties usually last throughout adult life. In many cases disrespect for authority leads to problems with the law. (For more information on this disorder, choose "Antisocial Personality Disorder" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of XYY Syndrome is symptomatic and supportive. Counseling for behavioral or sexual problems may be of benefit. Treatment of acne may help the patient's self-image.
Therapies: Investigational
Anyone who had a prenatal diagnosis of XYY Syndrome and is between the ages of five and twenty may wish to participate in a study being conducted to determine mental and behavioral outcomes connected with this syndrome. Interested persons may wish to contact Dr. John M. Graham of the UCLA School of Medicine, c/o KS and Associates, P.O. Box 119, Roseville, CA, 95661-0119.
This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on XYY Syndrome, please contact:
National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Mental Health Association
1021 Prince St.
Alexandria, VA 22314
(703) 684-7722
National Alliance for the Mentally Ill
1901 N. Fort Meyer Dr., Suite 500
Arlington, VA 22209
(703) 524-7600
National Mental Health Consumer Self-Help Clearinghouse
311 S. Juniper St., Rm. 902
Philadelphia, PA 19107
(215) 735-2481
NIH/National Institute of Mental Health (NIMH)
9000 Rockville Pike
Bethesda, MD 20205
(301) 443-4515 or (301) 496-1752
(800) 421-4211 (24 hrs.)
International Tremor Foundation
360 W. Superior St.
Chicago, IL 60610
(312) 664-2344
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 167.
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1989.
THE MERCK MANUAL, Volume 1, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp, and Dohme Laboratories, 1987. Pp. 2150.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Co., 1988. Pp. 64-66.
EFFECTS OF THE Y CHROMOSOME ON QUANTITATIVE GROWTH: AN ANTHROPOMETRIC
STUDY OF 47,XYY MALES. J. Varrela and L. Alvesalo; Am J Phys Anthropol; (Oct 1985; issue 68 (2)). Pp. 239-245.
SEX CHROMOSOME ANOMALIES, HORMONES, AND SEXUALITY. R. C. Schiavi, et al.; Arch Gen Psychiatry; (Jan 1988; issue 45 (1)). Pp. 19-24.
SEX CHROMOSOME VARIATIONS IN SCHOOL-AGE CHILDREN. F. L. Cohen and J.D. Durham; J Sch Health; (Mar 1985; issue 55 (3)). Pp. 99-102.
SPERM CHROMOSOME COMPLEMENTS IN A 47,XYY MAN. J. Benet and R. H. Martin; Hum Genet; (Apr 1988; issue 78 (4)). Pp. 313-315.
XYY Syndrome;(
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132: Yaws
_________________________
** IMPORTANT **
It is possible that the main title of the article (Yaws) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Breda's Disease
Charlouis' Disease
Frambesia
Pian (note: pian is not the same as pian bois or hemorrhagic pian: pian bois is a synonym for forest yaws, a form of leischmaniasis; hemorrhagic pian is the same as verruga peruana, one of the manifestations of bartonellosis)
Parangi
Bouba
Note: "forest yaws" is not a form of yaws; it is a form of leischmaniasis - see note with "pian")
DISORDER SUBDIVISIONS:
Gangosa (also known as Ogo and Rhinopharyngitis Mutilans)
Goundou (also known as Henpue or Henpuye, Gundo, and Anakhre)
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section.
Yaws is a usually nonvenereal infectious disease caused by an organism related to syphilis. Skin, and later, bone lesions characterize the disease. It is common among children in the humid tropics of Africa, South and Central America, the West Indies, and the Far East, but is rare in the United States. Antimicrobial therapy can cure the disease, although scars are permanent.
Symptoms
Yaws occurs in three stages. In the first, which occurs in young children, a tumor-like growth appears where the infectious organism is implanted, usually on the lower leg or foot. The lesion grows, develops a crust, and disappears over a period of several weeks, leaving a scar.
The second stage follows several weeks or months later. New, smaller but more numerous growths appear on the face, legs and arms, and around the anus and genitals. These lesions heal slowly, sometimes with relapses. On the soles of the feet, they may become keratotic (thickened and hard), and develop painful cracks and ulcerations, a condition called "crab yaws".
The third or tertiary stage of yaws occurs only in some cases. Several years after the appearance of the lesions characteristic of the second stage, destructive lesions of the skin and bone may develop. Skin lesions are soft and tumor-like, or ulcerative, and can cause disfigurement of the face. Bone lesions develop from inflammation of the sheath covering the bones (periostitis), and cause pain and deterioration of the bone, especially of the tibia (one of the shin bones). Painful and destructive nodules may appear around the joints.
Goundou is a painless but marked symmetrical swelling at the sides of the nose due to benign growth of bone and cartilage due to periostitis. It is accompanied by headache and nasal discharge. It is a manifestation of tertiary yaws.
Gangosa, also a common manifestation of tertiary yaws and related diseases, consists of destruction of the nose, the nasal part of the pharynx, and the hard palate.
Causes
Yaws is caused by a spirochete (a microorganism) called Treponema pertenue. This organism is related to and visually indistinguishable from those responsible for venereal syphilis, bejel (endemic syphilis), and pinta. (For more information, please see articles in the database on these related diseases.) The infection is usually transmitted by direct contact with open lesions. In some areas, certain species of flies may transmit the disease. In rare cases, individuals acquire the disease through sexual contact.
Affected Population
Yaws occurs primarily among children in the humid tropics of South and Central America, Africa, East Asia, and the West Indies.
Related Disorders
The treponematoses (yaws, bejel (endemic syphilis), pinta, and venereal syphilis) are all caused by identical looking spirochetal microorganisms known as treponemas. They differ in distribution, mode of transmission, and clinical characteristics and course. (For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: bejel, pinta, and syphilis.)
Therapies: Standard
Therapy for Yaws includes antimicrobial drugs such as benzathine penicillin G usually heal lesions and eliminate Treponema pertenue. Such drugs can also be used preventively in family members and others in frequent contact with patients. Disfigurement and scars are permanent, however.
Therapies: Investigational
This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Yaws, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
(404) 639-3534
National Institute of Allergy and Infectious Diseases (NIAID)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
References
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1723.
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 132.
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721: Yellow Fever
_________________________
** IMPORTANT **
It is possible that the main title of the article (Yellow Fever) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Bunyavirus Infection
Information on the following diseases can be found in the Related Disorders section of this report:
Dengue Fever
Viral Encephalitis
Malaria
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Yellow Fever is a viral infection which causes damage to the liver, kidney, heart and gastrointestinal tract. Major symptoms may include sudden onset of fever, yellowing of the skin (jaundice) and hemorrhage. It occurs predominately in South America, the Caribbean Islands and Africa. The disease is spread through bites of infected mosquitos. Incidence of the disease tends to increase in the summer as the mosquito population increases, and it occurs year round in tropical climates.
Yellow Fever has two cycles: the sylvan cycle in which mosquitos primarily spread the disease among forest-dwelling primates, and the urban cycle in which the infection is spread from human to human.
Symptoms
The symptoms of Yellow Fever are the sudden onset of fever and chills along with headache, backache, generalized pain, nausea, vomiting, flushed face and infection of the inner eyelid. The fever usually disappears after three days, reappearing several days later with new symptoms of jaundice, bleeding gums, soft palate hemorrhages, and the vomiting of blood (black vomit). The patient may go into shock during this phase.
Yellow Fever may also appear in a mild form with symptoms resembling influenza, malaria, dengue fever or typhoid. In this case, the fever usually lasts less than one week.
Causes
Yellow Fever is caused by a virus spread by the bite by an infected mosquito. Initially, a mosquito acquires the disease by ingesting the blood of an infected host. The mosquito then transmits the infection to its next bite victim.
Affected Population
Yellow Fever affects males and females equally. People living in semitropical or tropical climates are at risk unless they are vaccinated against this infection. People in southern areas of the United States, living near marshes and swamps may be at risk during the summer months.
Related Disorders
Symptoms of the following disorders can be similar to those of Yellow Fever. Comparisons may be useful for a differential diagnosis:
Dengue Fever is a disease also transmitted by a mosquito bite and characterized by a skin rash and a high fever with severe pain in the head and muscles. There is a sudden onset of symptoms with pain also occuring in the lower back, legs and joints. (For more information on this disorder, choose "Dengue Fever" as your search term in the Rare Disease Database).
Viral Encephalitis is a disease characterized by fever, headache, vomiting, rigidity of the neck, lethargy and convulsions. Generalized muscular weakness and paralysis may also occur.
Malaria is a communicable disorder also spread through the bite of a mosquito. Symptoms include chills and fever, although not every case follows the same pattern. Symptoms may begin a week after exposure to the mosquito or months later. (For more information of this disorder, choose "Malaria" as your search term in the Rare Disease Database).
Therapies: Standard
The treatment of Yellow Fever is symptomatic. Preventative measures consist of mosquito control and vaccination which prevents infection.
Therapies: Investigational
This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Yellow Fever, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
Centers for Disease Control (CDC)
1600 Clifton Road NE
Atlanta, GA 30333
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1594-1599.
THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in chief; Merck, Sharp & Dohme Laboratories., 1982. Pp. 120.
YELLOW FEVER: A MEDICALLY NEGLECTED DISEASE. REPORT ON A SEMINAR. T.P.
Monath; REV INFECT DIS 1987 Jan-Feb; 9(1):165-75.
STUDIES ON YELLOW FEVER VACCINE. I. QUALITY CONTROL PARAMETERS. O. de Souza Lopes et al; J BIOL STAND 1987 Oct; 15940:323-9.
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Copyright (C) 1990 National Organization for Rare Disorders, Inc.
834: Yellow Nail Syndrome
_________________________
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Yellow Nail Syndrome is characterized by yellow, thickened and curved nails with almost complete stoppage of nail growth. A loss of cuticles may also be associated with this syndrome. Loosening of the nails (onycholysis) may cause loss of some of the nails. Yellow Nail Syndrome is often associated with respiratory diseases and edema (fluid in the tissue causing swelling).
Symptoms
Yellow Nail Syndrome is characterized by slow growing, yellow, thickened nails with a loss of cuticles. The nails may become convex and loose. This condition is usually associated with plural effusion (fluid filled lungs) or lymphedema (fluid filled lymphatic vessels) of the extremities. Edema (swelling) of the legs as well as facial edema may also be present.
Respiratory diseases such as bronchiectasis (chronic inflammation or degenerative condition of the bronchi and bronchioles), bronchitis (chronic inflammation of the bronchial tubes) and sinusitis (inflammation of the membrane lining the sinus) may also occur with Yellow Nail Syndrome.
Causes
The exact cause of Yellow Nail Syndrome is not known, but it is often associated with respiratory infections which indicates that the immune system may be involved.
Affected Population
Women may be afflicted with this syndrome more often than men and the onset varies from birth to the eighties.
Therapies: Standard
There is no known treatment for Yellow Nail Syndrome, but the nails may improve when the related disorder is treated.
Therapies: Investigational
This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Yellow Nail Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
American Lung Association
1740 Broadway
New York, NY 10019
(212) 315-8700
NIH/National Heart, Blood and Lung Institute (NHBLI)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
References
CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 2347.
PULMONARY DISEASES and DISORDERS, 2nd Ed. Vol. 1: Alfred P. Fishman, M.D.; McGraw-Hill Book Company, 1988. Pp. 374.
CLINICAL DERMATOLOGY, 2nd Ed.: Thomas P. Habif, M.D.; The C.V. Mosby Co., 1990. Pp. 632.
PLURAL EFFUSION ASSOCIATED WITH PRIMARY LYMPHEDEMA: A PERSPECTIVE ON THE
YELLOW NAIL SYNDROME: D.J. Beer, et al.; Am. Rev. Respir. Dis. (March, 1978, issue 117 (3). Pp. 595-599.
YELLOW NAIL SYNDROME: G.P. Pavvlidakey, et al.; J. Am. Acad. Dermatol. (September, 1984, issue 11 (3)). Pp. 509-12.
Yellow Nail Syndrome
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Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc.
243: Vitiligo
_________________________
** IMPORTANT **
It is possible the main title of the article (Vitiligo) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Leukoderma
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Vitiligo is a dermatological condition which is characterized by an absence of melanocytes (pigment-producing cells), causing decreased pigmentation in the skin. These symptoms can vary from one or two spots to generalized depigmentation of the entire body.
Symptoms
Vitiligo is characterized by spots on the skin with decreased pigmentation. These lesions are usually sharply demarcated with increased coloring (hyperpigmentation) on the borders, and are often symmetrical in shape. These areas most often appear on the face, neck, hands, abdomen, and thighs although they can occur on all parts of the skin. The hair in vitiliginous areas is usually white and the skin lesions appear white under a Wood's light. The lesions are prone to sunburn and should be protected from sunlight.
Causes
Vitiligo is sometimes familial, but the exact mode of heredity is not yet understood. This disorder may follow unusual trauma, especially to the head. Vitiligo has been associated with Addison's disease, diabetes mellitus, pernicious anemia, and abnormal thyroid function. An immunologic and neurochemical base to the disorder has been postulated. (For more information on these disorders, choose "Addison" and "Pernicious Anemia" as your search terms in the Rare Disease Database.)
Recent scientific research at the National Institutes of Health indicates that Vitiligo is 10 to 15 times more common in patients with other diseases in which the body breaks down its own tissue (autoimmune diseases) such as pigment cell cancer (melanoma). This disorder has not previously been considered an autoimmune disease. While organ-specific antibodies have recently been detected in patients with the disease, the evidence that its destruction of pigment cells (melanocytes) has an immune basis had not been clear in prior research.
Affected Population
Onset of Vitiligo is usually before age 20 years.
Therapies: Standard
Small lesions of Vitiligo may be camouflaged with cosmetic creams. Para-aminobenzoic acid solution or gel gives protection against sunburn.
Therapies: Investigational
This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Vitiligo, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Frontier's International Vitiligo Foundation
4 Rozina Ct.
Owings Mills, MD 21117
National Foundation for Vitiligo & Pigment Disorders
9032 South Normandy Dr.
Centerville, OH 45459
The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
References
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 2299.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2344-5.
Vitiligo
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)|)Copyright (C) 1987, 1990, 1991 National Organization for Rare Disorders, Inc.
393: Von Gierke Disease
_________________________
** IMPORTANT **
It is possible the main title of the article (Von Gierke Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Glycogen Storage Disease I
Glycogenosis Type I
Hepatorenal Glycogenosis
DISORDER SUBDIVISIONS:
Glycogenosis Type IA, also known as Glucose-6-Phosphatase Deficiency
Glycogenosis Type IB, also known as Glucose-6-Phosphate Translocase
Deficiency, and Glucose-6-Phosphate Transport Defect
Information on the following disorders can be found in the Related Disorders section of this report:
Forbes Disease
Andersen Disease
Hers Disease
Glycogen Storage Disease VIII
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Von Gierke Disease is a glycogen storage disease. This hereditary metabolic disorder is caused by an inborn lack of the enzyme glucose-6-phosphatase. This enzyme is needed to convert the main carbohydrate storage material (glycogen) into sugar (glucose) which the body uses for its energy needs. A deficiency causes deposits of excess glycogen in the liver and kidney cells.
Symptoms
Symptoms of Von Gierke Disease usually begin during the first year of life. The disorder is characterized by persistent hunger, fatigue and irritability. These symptoms are especially noticeable in infants. Other symptoms include marked enlargement of the liver (hepatomegaly), weight loss and a slow growth rate. If food is withheld, a low blood sugar level (hypoglycemia) and an abnormally high level of acetone, aceto-acetic acid and beta-hydroxybutyric acid (also called ketones) may develop in the blood and body tissues. This is called ketosis. If the hypoglycemia is severe, patients may experience seizures.
Children with Von Gierke Disease may bruise easily and may experience frequent nosebleeds. An increased level of cholesterol and fatty acids in the blood (lipidemia) may lead to yellow lipid deposits under the skin (xanthoma) in the joint areas of the arms and legs. Small spaces (vacuoles) filled with the main carbohydrate storage material (glycogen) may be seen microscopically in liver cells and throughout the kidneys. An excess of uric acid in the blood (hyperuricemia) may also occur. The course of the disorder can be severe at times. However, the symptoms tend to improve gradually with age.
Causes
Von Gierke Disease is inherited through autosomal recessive genes. This disorder is caused by a lack of the enzyme glucose-6-phosphatase. A deficiency causes excess amounts of glycogen to be stored in the body's tissues. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.)
Affected Population
Von Gierke Disease and other glycogen storage disorders together affect about 1 in 40,000 persons in the United States. It affects males and females in equal numbers.
Related Disorders
Glycogen Storage Diseases are caused by inborn errors of metabolism in which the balance between stored energy (glycogen) and available energy (sugar or glucose) is disturbed. Too much glycogen tends to be stored in the liver and muscles and too little sugar is available in the blood.
The following diseases are similar to Von Gierke Disease. Comparisons may be useful for a differential diagnosis:
Forbes Disease (Glycogenosis III; Cori Disease) is another genetic glycogen storage disease. This disorder is caused by a lack of a debrancher (dextrin-1-6-glucosidase) enzyme. This enzyme deficiency causes excess amounts of glycogen to be deposited in the liver and muscles. The nerves in the back of the legs and on the sides of the heel and foot (sural nerves) also accumulate excess glycogen. The heart may be involved in some cases.
Andersen Disease is a glycogen storage disease inherited through recessive genes. Symptoms of this disorder are caused by a lack of a brancher enzyme amylo transglucosidase. The lack of this enzyme causes an abnormality in the structure of the main carbohydrate storage material (glycogen). Andersen Disease is characterized by scarring of the liver (cirrhosis) which may lead to liver failure.
Hers Disease is a mild genetic form of glycogen storage disease. The disorder is caused by a deficiency of the enzyme liver phosphorylase. Hers Disease is characterized by enlargement of the liver (hepatomegaly), moderately low blood sugar (hypoglycemia), elevated levels of acetone and other ketone bodies in the blood (ketosis), and moderate growth retardation. Symptoms are not always evident during childhood. Children may be able to lead normal lives. In other cases, severe symptoms may be present.
Glycogen Storage Disease VIII is a sex-linked genetic disorder caused by a deficiency of the enzyme liver phosphorylase kinase. The disorder is characterized by slightly low blood sugar (hypoglycemia). Excess amounts of glycogen (the stored form of energy that comes from carbohydrates) are deposited in the liver, causing enlargement of the liver (hepatomegaly).
For more information on the above disorders, choose "Forbes," "Anderson," "Hers," and "Glycogen Storage Disease VIII" as your search terms in the Rare Disease Database.
Therapies: Standard
Diagnosis of Von Gierke Disease may be confirmed by tests that measure the body's reaction to sugar when it is added to the blood stream (glucose test), a test that measures the body's reaction to glucagon (glucagon tolerance test).
Treatment of Von Gierke Disease is aimed at prevention of low blood sugar (hypoglycemia) and ketosis through a carefully controlled diet. Frequent small servings of carbohydrates and a high protein diet during the day must be maintained throughout life. At night continuous tube feeding of food solutions such as Vivonex may be administered to promote normal childhood growth. The uric acid concentration in the blood must be carefully monitored to prevent gouty arthritis during adolescence or adulthood. Allopurinol, a drug capable of reducing the level of uric acid in the blood, may be useful to control the symptoms of gout-like arthritis during the adolescent years.
Recently the use of cornstarch as an overnight feeding, one cup of cornstarch before bed, has shown great promise. Not only does this procedure eliminate other forms of feeding throught the night, but it has improved blood levels of glucose and lowered amino acid asnd phosphate loss. It has been documented that this treatment has shown an increased growth of some patients and a decrease in damage to the kidney's proximal tubules.
Genetic counseling can be helpful for families of children with Von Gierke Disease and other Glycogen Storage Diseases. Although the disorder is not curable it is treatable with appropriate medication, diet control and monitoring to prevent complications.
Therapies: Investigational
Dr. Yuan-Tsong Chen, M.D., Ph.D. of Duke University, Durham, NC, was awarded a grant in 1988 by the Orphan Products Division for his work using cornstarch as a treatment for Von Gierke Disease (Type I Glycogen Storage Disease).
Dr. Y.T. Chen at Duke University Medical Center, at the request of the Glycogen Storage Disease Association, is collecting DNA from patients with Glycogen Storage Disease Type I to form a DNA bank for GSDI. Interested patients may contact the Glycogen Storage Diseases Association for further information. The address and phone number of the organization are listed in the Resources section of this report.
This disease entry is based upon medical information available through May 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Von Gierke Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Association for Glycogen Storage Diseases
Box 896
Durant, IA 52747
(319) 785-6038
National Digestive Diseases Information Clearinghouse
Box NDDIC
Bethesda, MD 20892
(301) 468-6344
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Rd.
Crewe CW1 1XN, England
Telephone: (0270) 250244
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
OPTIMAL RATE OF ENTERAL GLUCOSE ADMINISTRATION IN CHILDREN WITH GLYCOGEN
STORAGE DISEASE TYPE I: W.F. Schwenk, et al.; New England Journal of Medicine (March 13, 1986: issue 314,11). Pp. 682-685.
GLYCOGEN STORAGE DISEASE TYPE I. RESULTS OF TREATMENT WITH FREQUENT
DAYTIME FEEDING, COMBINED WITH NOCTURNAL INTRAGASTRIC FEEDING AND WITH
ADMINISTRATION OF AN ALPHA-GLUCOSIDASE INHIBITOR: H. Grube, et al.; European Journal of Pediatrics (April 1983: issue 140,2). Pp. 102-104.
Von Gierke Disease
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'Copyright (C) 1986, 1988, 1989, 1990, 1991 National Organization for Rare Disorders, Inc.
181: Von Hippel-Lindau Disease
_________________________
** IMPORTANT **
It is possible that the main title of the article (von Hippel-Lindau Disease) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Lindau's Disease
Hippel's Disease
Retinocerebral Angiomatosis
Cerebelloretinal Hemangioblastomatosis
Angiomatosis Retina
Angiophakomatosis Retinae et Cerebelli
Hippel-Lindau Disease
Cerebellum, Hemangioblastoma
Information on the following diseases can be found in the Related Disorders section of this report:
Neurofibromatosis (von Recklinghausen's Disease)
Sturge-Weber Syndrome
Tuberous Sclerosis
Pheochromocytoma
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Von Hippel-Lindau Disease a hereditary disorder characterized by multiple focal tissue malformations called hamartomas. These growths may be found in the retina, brain (occasionally extending to the spinal cord), kidneys, adrenal glands, and other organs. Symptoms may include headaches, dizziness and failure of muscular coordination (ataxia). Chronic high blood pressure may also be present. This disorder tends to run in families, and symptoms may vary.
Symptoms
Von Hippel-Lindau Disease usually begins during young adulthood but may appear as early as the age of eight. The disorder is characterized by headaches, dizziness and failure of muscular coordination (ataxia). Unreasonable behavior may also occur. Eye examinations reveal enlarged and twisted blood vessels in the retina. Bulges in the blood vessels (aneurysms) may develop in these retinal vessels which may form a tumor (angioma) that resembles a balloon. Benign tumors (pheochromocytomas) of the adrenal glands may be present as well, causing chronic high blood pressure, pounding heartbeat, headache, cold hands and feet, and excessive sweating. After a certain age, the high blood pressure may return to normal. Subretinal yellow spots as well as star-shaped material may be seen on the retina when examined with an ophthalmoscope. Blood tests may show an increase of red cell mass (polycythemia).
Neurological (Brain) changes, detachment of the retina, glaucoma (high pressure in the eyes) blindness and kidney problems may also occur.
Causes
Von Hippel-Lindau Disease is an autosomal dominant genetic disorder with various forms. Scientists believe they have located the gene that causes Von-Hippel Lindau Disease on chromosome number 3. Thus affected people may have a mild, moderate, or severe form of the disease depending upon the degree to which the gene affects the patient.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
Tumors of the retina may be associated with benign, slowly growing tumors of the brain (hemangioblastomas) usually in the cerebellum. Other parts of the central nervous system such as the medulla, brain stem or the spinal cord are rarely affected.
Affected Population
Von Hippel-Lindau Disease affects males and females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of von Hippel-Lindau Disease. Comparisons may be useful for a differential diagnosis:
Neurofibromatosis (von Recklinghausen Disease) is a genetic disorder with highly variable manifestations which can affect many body systems. The disease is characterized by multiple nerve tumors under the skin which can result in disfigurement, and other complications. (For more information on this disorder, choose "Neurofibromatosis " as your search term in the Rare Disease Database).
Sturge-Weber Syndrome is an inherited disorder in which a port-wine colored stain (angioma) on the face and intracranial abnormalities are present at birth. Generalized seizures usually occur between one and two years of age, with additional neurologic symptoms. Glaucoma of the eye on the affected side and defective vision may also occur. (For more information on this disorder, choose "Sturge-Weber Syndrome " as your search term in the Rare Disease Database).
Tuberous Sclerosis is a disorder associated with benign tumors of the brain, skin lesions and occasionally involvement of other internal organs. It is most often characterized by two neurologic symptoms-epileptic seizures and varying degrees of mental retardation. (For more information on this disorder, Choose "Tuberous Sclerosis" as your search term in the Rare Disease Database).
The following disorder may be associated with von Hippel-Lindau Disease as a secondary characteristic. It is not necessary for a differential diagnosis:
Pheochromocytoma is a tumor usually found in the marrow (medulla) of the adrenal gland. The tumor secretes hormones, which may cause high blood pressure. Attacks of pounding heartbeat and severe headache can occur, or the blood pressure may be chronically elevated. Cooler than normal hands and feet, unusual facial paleness, and excessive sweating also occur. Patients usually experience marked anxiety, severe nausea, vomiting, visual disturbances, and chest or abdominal pain. Unusual sensations (paresthesias) or seizures can also occur. The tumors affect males and females equally, and they are usually benign. Early detection is important, and surgical removal of the tumor usually halts the symptoms of Pheochromocytoma.
The National Institutes of Health has a clinical screening for persons from families with von Hippel-Lindau Disease. There is no cost to the patients for examination or travel. For further information, please contact:
Dr. Berton Zbar
Laboratory of Immunobiology
Bldg. 560, Rm. 12-17
National Cancer Institute
Frederick, MD 21701
Therapies: Standard
There are two different ways to treat von Hippel-Lindau Disease: Vascular lesions in the retina can be destroyed by an intense light beam (laser) and cryotherapy (the use of cold in treatment). These therapies all appear to be effective in lesions smaller than 2.5cc. Larger lesions respond best to cryotherapy.
Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
Drs. Gary Skuse and Peter Rowley of the Division of Genetics, University of Rochester School of Medicine, are analyzing the role of oncogenes in tumors from people with von Hippel-Lindau Disease. They request that they be notified of surgery for tumors in this condition as soon as it is scheduled so that arrangements can be made to receive tissue samples. Please call Dr. Rowley, Dr. Skuse, or Barbara Kosciolek at (716) 275-3461.
This disease entry is based upon medical information available through November 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on von Hippel-Lindau Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Von Hippel-Lindau Syndrome Foundation
P.O. Box 733
Toms River, NJ 08754-0733
(908) 244-7635
VHL Family Forum
171 Clinton Rd.
Brookline, MA 02146
(617) 232-5946
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
NIH/National Eye Institute (NEI)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5583
Gary R. Skuse, Ph.D.
University of Rochester Medical Center
Division of Genetics
601 Elwood Center, Box 4641
Rochester, NY 14641
Eye Research Institute
20 Staniford St.
Boston, MA 02114
(617) 742-3140
NIH/National Cancer Institute
9000 Rockville Pike, Bldg. 31, Rm. 1A2A
Bethesda, MD 20892
1-800-4-CANCER
The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call:
Cancer Information Service (CIS)
1-800-4-CANCER
In Washington, DC and suburbs in Maryland and Virginia, 636-5700
In Alaska, 1-800-638-6070
In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect)
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
FAMILIAL PHEOCHROMOCYTOMA, HYPERCALCEMIA, AND VON HIPPEL-LINDAU DISEASE, A
TEN YEAR STUDY OF A LARGE FAMILY, N. O. Atuk, et al.; Dept. of Internal Med. U. of VA, Medicine (vol. 58 (3) ). Pp. 209-218.
Von Hippel-Lindau Disease
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-Copyright (C) 1987, 1988, 1990, 1991, 1992 National Organization for Rare Disorders, Inc.
375: Von Willebrand Disease
_________________________
** IMPORTANT **
It is possible the main title of the article (Von Willebrand Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Angiohemophilia
Vascular Hemophilia
Minot-Von Willebrand Disease
Pseudohemophilia
Constitutional Thrombopathy
Willebrand-Juergens Disease
Information on the following disease can be found in the Related Disorders section of this report:
Hemophilia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Von Willebrand Disease is a hereditary blood clotting disorder characterized by prolonged bleeding. Blood clotting is slowed due to a deficiency of the Von Willebrand factor protein and factor VIII protein (the factor VIII complex). Also, platelets do not stick normally causing excessively slow clotting time. Increased risk of excessive bleeding following surgery, dental procedures or injury occurs in patients with this disorder. With proper treatment and appropriate precautions, few patients become seriously handicapped by Von Willebrand Disease. The tendency to prolonged bleeding usually decreases with age.
Symptoms
Patients with Von Willebrand Disease tend to experience prolonged bleeding, usually of the gastrointestinal tract or nosebleeds (epistaxis). People with this disorder tend to bruise easily and bleed excessively following injuries, surgery, menstruation and/or childbirth. Very rarely, internal bleeding into joints may also occur.
Causes
Von Willebrand Disease is usually inherited as a dominant trait. Decreased production of the Von Willebrand factor protein and blood factor VIII (the factor VIII complex), combined with a blood platelet abnormality does not allow the blood to coagulate properly, causing excessive bleeding. A severe form of Von Willebrand Disease has recently been identified; this type of the disorder can be inherited as either a recessive or a dominant trait.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.
In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.
In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
A disorder similar to Von Willebrand Disease which may be acquired during later adult life has also been recently identified. This disorder is caused by over-production of an antibody that destroys the Von Willebrand factor protein. Von Willebrand Disease can also be acquired in association with other diseases including certain kidney diseases, a type of Leukemia, or congenital heart disease involving an abnormal heart valve.
Von Willebrand Disease differs from the better known bleeding disorder Hemophilia because it affects both sexes. Persons with Hemophilia have deficiencies of the factor VIII protein with normal amounts of the Von Willebrand factor protein. No platelet abnormality is found in Hemophilia patients.
Affected Population
Von Willebrand Disease usually begins in infancy or early childhood. This disorder seems to affect females more than males, although both can be affected. Some forms can be acquired during adulthood due to non-genetic causes.
Related Disorders
Hemophilia is a blood clotting disorder inherited as an X-linked recessive trait. Symptoms are caused by deficiencies of blood clotting factor VIII protein. Hemophilia affects males exclusively and the degree of severity is determined by the percentage of normal active clotting factor in the blood. Persons with severe hemophilia usually have less than 1% of the normal levels of active clotting factor present in their blood. The general term "Hemophilia" includes Hemophilia A (Classical Hemophilia, Factor VIII deficiency), and Hemophilia B (Christmas Disease, Factor IX deficiency). (For more information on this disorder, choose "hemophilia" as your search term in the Rare Disease Database.)
Hemophilia and Von Willebrand Disease are inherited through different modes of transmission; Hemophilia is caused by an x-linked recessive gene whereas Von Willebrand is usually caused by one dominant gene.
Other rare blood clotting disorders may have similar symptoms but may not be classified as types of hemophilia due to different modes of inheritance, transmission and different blood clotting factors involved.
Therapies: Standard
Patients with Von Willebrand Disease should take special precautions before any surgical procedure, after an accident or unexplained bleeding. Blood or blood plasma transfusions before surgery or childbirth can reduce the risk of hemorrhage. Transfusions of intravenous (frozen or stored) blood plasma can elevate factor VIII protein and the Von Willebrand factor protein thus allowing blood to clot properly. Transfusions of whole blood can also raise the level of these factors and improve clotting ability.
Some patients with mild cases of Von Willebrand Disease have undergone surgical procedures with daily dosages of the drug Desmopressin Acetate (DDAVP). This is a synthetic agent which can be used as a substitute for blood products. It can stimulate the release of the factor VIII complex molecules from cells lining blood vessels thereby shortening clotting time. In some cases, additional treatment with cryoprecipitates (frozen blood products) may be required to control excess bleeding. Careful monitoring of dosages is recommended to avoid other complications.
An injectable form of DDAVP, an antidiuretic peptide, is manufactured by Rorer Pharmaceutical, Corp., Ft. Washington, PA.
Cryoprecipitates (frozen blood products) remain the best way to replace the factor VIII complex especially in severe cases of Von Willebrand Disease. Careful medical supervision of dosages is also necessary with this treatment.
The antifibrinolytic drug, aminocaproic acid (amicar) can aid in reducing bleeding.
Individuals with Von Willebrand Disease should wear some type of identification such as the Medic-Alert bracelet. Emergency information should include directions to treat bleeding with Desmopressin Acetate (DDAVP) or cryoprecipitates.
People affected by this disorder should avoid aspirin and drugs that prolong bleeding. Activities that are likely to be associated with injuries should be avoided. Genetic counseling can be helpful to families and patients.
Therapies: Investigational
The FDA has approved the following orphan drug for testing as treatment for Von Willebrand patients:
Antihemophilic Factor, Human (Humate P)
Manufactured by:
Behringwerke Aktiengesellschaft
500 Arcola Rd.
P.O. Box 1200
Collegeville, PA 19426-0107
A form of Desmopressin Acetate (DDAVP) administered through the nose (intranasally) is being studied as a possible treatment for Von Willebrand Disease.
The Food and Drug Administration (FDA) has awarded a research grant to Marjorie Read, Ph.D., University of North Carolina, Chapel Hill, NC, for studies on coagglutinin as a treatment for von Willebrand Disease. The orphan drug was approved for testing by the FDA and is manufactured by Rorer Pharmaceutical Corp., Ft. Washington, PA.
The FDA has approved the following drug for testing as treatment for Von Willebrand Disease patients:
The orphan drug NovoSeven (factor VIIa) (recombinant DNA origin)) is being tested for treatment of patients without antibodies against factor VIII/IX by Novo-Nordisk A/S, Copenhagen, Denmark.
For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database.
This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Von Willebrand Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Heart, Lung and Blood Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
Although Von Willebrand Disease is not a form of Hemophilia, National Health Agencies providing information, referrals and support groups for Von Willebrand Disease are organizations that are primarily concerned with Hemophilia:
National Hemophilia Foundation
19 W. 34th Street
New York, NY 10001
(212) 563-0211
(Supplies lists of Hemophilia centers throughout the country).
Canadian Hemophilia Society, National Office
100 King Street West, Suite 210
Hamilton, Ontario L8P 1A2
Canada
(416) 523-6414
World Federation of Hemophilia
Suite 1517
1155 Dorchester Blvd. West
Montreal, Quebec H3B 2L3
Canada
(514) 866-0442
The Haemophilia Society
P.O. Box 9
16 Trinity Street
London SE1 1DE
England
01-407-1010
For more information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
A HUMAN MYELOMA-PRODUCED MONOCLONAL PROTEIN DIRECTED AGAINST THE ACTIVE
SUBPOPULATION OF VON WILLEBRAND FACTOR: E.G. Bovill, et al.; Am J Clin Pathol (Jan. 1986, issue 85(1)). Pp. 115-123.
VON WILLEBRAND'S DISEASE AND PREGNANCY: MANAGEMENT DURING DELIVERY AND
OUTCOME OF OFFSPRING: J.R. Chediak, et. al.; Am J Obstet Gynecol (Sept. 1986, issue 155(3)). Pp. 618-624.
VON WILLEBRAND SYNDROME: I. Scharrer; Behring Inst Mitt (Feb. 1986, issue 79). Pp. 12-23.
NASAL SPRAY DESMOPRESSIN (DDAVP) FOR MILD HEMOPHILIA A AND VON
WILLEBRAND DISEASE, E.H. Rose, et al., Ann Intern Med, (April 1, 1991, issue 114). Pp. 563-568.
Von Willebrand Disease
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@)-)Copyright (C) 1990 National Organization for Rare Disorders, Inc.
761: Vulvovaginitis
_________________________
** IMPORTANT **
It is possible that the main title of the article (Vulvovaginitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Vaginitis
Nonspecific Vaginitis
Vaginitis, Garderella Vaginalis
Vaginitis, Haemophilus Vaginalis
Trichomoniasis
Genital Candidiasis
Yeast Infection
Bacterial Vaginitis
Information on the following diseases can be found in the Related Disorders section of this report:
Chlamydia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Vulvovaginitis is a common bacterial infection characterized by the simultaneous inflammation of the external parts of the female genital organs (vulva) and the canal that leads from the uterus to the external opening (vagina). It is one of the most frequent causes of genital symptoms in women. When only the vagina is inflamed, the disorder is called vaginitis. The symptoms and treatments of Vulvovaginitis depend on the specific bacteria that caused the disorder.
The most common types of vulvovaginitis are Genital Candidiasis (also called Yeast Infection), Trichomoniasis, and Nonspecific Vaginitis (also called Haemophilus Vaginalis Vaginitis, Bacterial Vaginitis or Garderella Vaginalis Vaginitis). Some types of vulvovaginitis are rarer than others.
Vulvovaginitis occurs when the normal acid/alkaline balance of the vagina is disturbed. Yeast, fungi and other harmful organisms which are normally present may grow in excessive amounts causing infection of the vaginal walls.
Symptoms
The symptoms of Genital Candidiasis may include moderate to severe itching (pruritus) or burning of the vaginal area, difficult or painful urination (dysuria) and a thick discharge which may resemble cottage cheese. More rarely, there is a thin, watery discharge. Symptoms usually increase during the week before the menstrual period. Approximately 10% of the male sexual partners of infected women may develop symptoms such as abnormal redness and itching of the penis. (For more information, choose "Candidiasis" as your search term in the Rare Disease Database.)
Symptoms of Trichomoniasis type of Vulvovaginitis may include severe itching and a thin, frothy, offensive smelling discharge. There is usually inflammation of the vulva, and painful, difficult urination. Symptoms usually begin or become worse during or immediately after the menstrual period. Some women do not show symptoms for six months after infection has begun. Trichomoniasis bacteria can be isolated in 30% to 70% of the male sexual partners of infected women. Most men show no symptoms, but should be treated to stop transmission to their female sexual partners.
Women with Nonspecific Vaginitis usually have a light discharge which may contain bubbles and have a "fishy" odor. Initially, there is little inflammation of the vulva and three-quarters of infected women will show no symptoms. Symptoms of Nonspecific Vaginitis are not related to the stages of the menstrual cycle. Later symptoms may include inflammation of the vulva, itching or burning of the vaginal area, and painful or difficult sexual intercourse (dyspareunia).
Causes
Vulvovaginitis may occur as a result of a disturbance in the normal balance of acidity and alkalinity in the vagina. This allows bacteria, yeast or other harmful organisms to grow. Factors which may increase susceptibility to these infections are birth control pills, pregnancy, poor diet, antibiotics, frequent douching with chemical products, deodorant sprays, laundry soaps, fabric softeners and bath water additives. Tight, nonporous, nonabsorbent underclothing which does not provide adequate ventilation to the area, along with poor hygiene may increase the growth of bacteria and fungi. Sensitivity to spermicides, sexual lubricants or latex on a diaphragm or condom may also cause irritation and disturb the natural balance.
Certain forms of Vulvovaginitis may be transmitted sexually. More rarely, vaginal infection may be the result of foreign bodies, a viral infection such as herpes, pinworm or tumors of the reproductive tract.
Genital Candidiasis (Yeast Infection) is caused by the fungus Candida. Antibiotics taken for infection elsewhere in the body may reduce the normal bacterial content of the vagina, allowing yeasts to overgrow. Women on oral contraceptives are more susceptible to vaginal infections since hormonal changes may also upset the natural balance between bacteria and yeast in the vagina. Genital Candidiasis is rarely transmitted by sexual relations. (For more information on this disorder, choose the term "Candidiasis" for your search term in the Rare Disease Database.)
Trichomoniasis is caused by the parasitic protozoa Trichomonas Vaginalis, and is usually transmitted by sexual intercourse. Occasionally Trichomoniasis may be transmitted nonsexually since Trichomonas can survive for several hours on wet surfaces. Contact with infected moist objects such as towels, bathing suits, underwear, washcloths, toilet seats and locker room benches may result in this type of Vulvovaginitis.
Nonspecific Vaginitis can be caused by the bacteria Haemophilus Vaginalis or Garderella Vaginalis. Nonspecific Vaginitis is commonly transmitted by sexual intercourse.
Affected Population
Vulvovaginitis occurs most commonly in women during their reproductive years. Genital Candidiasis occurs frequently in pregnant and diabetic women. Certain types of Vulvovaginitis may be contracted through sexual intercourse and in turn spread to sexual partners.
Related Disorders
Symptoms of the following disorder can be similar to those of Vulvovaginitis. A comparison may be useful for a differential diagnosis:
Chlamydia is a common sexually transmitted infection which results in inflammation of the tube that conducts urine from the bladder to the outside of the body (urethra). It is characterized by vaginal discharge and pain on urination. Chlamydial Infection is also common in men who get it from their sexual partners. (For more information of this disorder, choose "Chlamydia" as your search term in the Rare Disease Database.)
Therapies: Standard
Women with Genital Candidiasis are usually successfully treated with a local antifungal imidazole drugs, (e.g., miconazole). Polyene drugs (i.e., nystatin) are also commonly prescribed. Treatment may be in the form of vaginal suppositories, creams or powders. Recurrence is frequently a problem, and those who suffer from repeated infections may need to avoid the use of antibiotics. Switching to a lower dosage oral contraceptive may also be helpful to these individuals. Eating yogurt may help in prevention of yeast infections since it contains harmless bacteria which may help restore the acid/alkaline balance in the vagina. Men with Candidiasis infection may be treated by a topical anticandidal medication. (For more information on this disorder, choose "Candidiasis" as your search term in the Rare Disease Database).
The Trichomoniasis type of Vulvovaginitis is usually treated orally with the drug Metronidazole. Clotrimazole may also be prescribed for intravaginal use. Douching with an acidic preparation may be recommended by some physicians. Infected individuals of both sexes are usually advised to abstain from sexual intercourse until the infection is cured.
Nonspecific Vaginitis is also treated with the drug Metronidazole. Vaginal suppositories and propionic acid jelly are also commonly prescribed. Pregnant women are occasionally treated with Ampicillin. Approximately 25% of infected individuals will have recurrences requiring treatment. Initial treatment of infected women need not involve treatment of their sexual partners. However simultaneous treatment of their sexual partners is usually encouraged for women with recurrent infections. Sexual intercourse is usually not recommended until the infection clears.
There are numerous precautions suggested to avoid vaginal infections. Women should be reminded to keep the external genitalia clean, and dry the area carefully after bathing; avoid irritating sprays and soaps; wear cotton instead of polyester underwear; avoid pants that are tight in the crotch and thighs; change tampons frequently; and make sure that sexual partners are free of infections and receive proper therapy when indicated.
Therapies: Investigational
This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Vulvovaginitis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
American Social Health Network
100 Capitola Dr., Suite 200
Research Triangle Park, NC 27713
(919) 361-8400
National Sexually Transmitted Diseases Hotline
(800) 227-8922
Council for Sex Information and Education
444 Lincoln Blvd., Suite 107
Venice, CA 90291
NIH/National Institute of Allergy and Infectious Diseases (NIAID)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1528-1529.
THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 1705-1708.
ANTIMICROBIAL EFFECTS OF NIRIDAZOLE ON GARDNERELLA VAGINALIS. R.M.
Bannatyne et al.; INFECTION (Mar-Apr 1987; 15(2):128).
THE ROLE OF BENZYDAMINE IN THE TOPICAL TREATMENT OF THE SO-CALLED NON-
SPECIFIC VAGINITIS. E.M. Magliano et al.; INT J TISSUE REACT (1987; 9(2):151-6).
Vulvovaginitis=*
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$Copyright (C) 1987, 1988, 1989, 1993 National Organization for Rare Disorders, Inc.
430: Waardenburg Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Waardenburg Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article.
Synonyms
Klein-Waardenburg Syndrome
Mende Syndrome
Ptosis-Epicanthus Syndrome
Van der Hoeve-Halbertsma-Waardenburg-Gualdi Syndrome
Waardenburg-Klein Syndrome
DISORDER SUBDIVISIONS
Waardenburg Syndrome Type I
Waardenburg Syndrome Type II
The following disorders may be found in the Related Disorders section of this report:
Cutaneous Albinism and Deafness
Cutaneous Albinism without Deafness
Harada Syndrome
Vogt-Koyanagi Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report.
Waardenburg Syndrome is a hereditary disorder characterized by facial abnormalities. The inner folds of the eyelids or the tear duct may be displaced, congenital nerve deafness may occur, and often abnormal pigmentation of the iris of the eye, the skin, and/or the hair may be present.
Type I of this disorder is characterized by displacement of the fold of the eyelid, while type II does not include this feature. However, the frequency of deafness is higher in type II of the disorder.
Symptoms
Common symptoms of Waardenburg Syndrome include displacement of the inner folds of the eyelids, prominence of the nose, and overdevelopment of the eyebrows. The patient may have two different colored eyes or two colors in one iris. Congenital nerve deafness may also occur. A white forelock or early graying of the hair characterizes this disorder. The white forelock may disappear by age 3 months and return later in childhood.
Other clinical findings include a thin nose with flaring nostrils, a "cupid bow" configuration of the lips, wide-set eyes, inflammation of the tear sac (dacryocystitis), and drooping of the upper eyelid (ptosis), lack of an indent between the nose and the forehead, a prominent lower jaw, a cleft or high-arched palate, patches of skin without pigment (vitiligo), and minor skeletal abnormalities may also occur. Marked degeneration of the nerve cells and blood vessels within the cochlea of the middle ear (in the so-called organ of Corti) may cause nerve deafness. (For more information, choose "Vitiligo" as your search term in the Rare Disease Database.)
Causes
Waardenburg Syndrome is a disorder inherited through dominant genes with variable penetrance. Within a family, all degrees of severity, from mild to severe, may be encountered. Alterations in PAX3, a gene found on chromosome 2, are responsible for the disorder.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
Variable penetrance means that manifestations of a particular disease may not be present in all those who inherit the defective gene.
Affected Population
Waardenburg Syndrome occurs in 1 out of 4,000 live births. It affects males and females in equal numbers.
Related Disorders
The following disorders have symptoms similar to those of Waardenburg Syndrome. Comparisons may be useful for a differential diagnosis:
Albinism (Congenital Achromia; Hypopigmentation) is a group of syndromes characterized by the congenital absence of pigment in the skin, hair, and eyes, associated with other eye abnormalities. Usually eye pigmentation is affected without other facial abnormalities, although in some cases deafness may occur. (For more information on this disorder, choose "Albinism" as your search term in the Rare Disease Database.)
Vogt-Koyanagi Syndrome (Uveo-oto-cutaneous Syndrome) is a disorder characterized by symmetric white streaks in the hair. Streaks of no pigment may also appear on the hands, face, neck, and trunk (vitiligo). Premature graying of the hair, baldness, hearing impairment and tinnitus, bilateral inflammation of the iris and the lens (uveitis), and inflammation of the retina (retinitis) may occur.
The Harada Syndrome is similar to the Vogt-Koyanagi Syndrome, except for a possible absence of the skin and hair symptoms. The Harada Syndrome and the Vogt-Koyanagi Syndrome affect mostly persons of Oriental heritage. Hair and skin lesions may disappear with time, and hearing and vision may recover spontaneously (partially) in the Harada Syndrome.
Vitiligo is a dermatological condition characterized by an absence of melanocytes (pigment-producing cells), causing decreased pigmentation in the skin. These symptoms can vary from one or two spots to generalized depigmentation of the entire body. (For more information on this disorder, choose "vitiligo" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Waardenburg Syndrome is symptomatic and supportive. A hearing aid, learning sign language and lip-reading techniques, and special schooling may be helpful. Surgical repair of cleft palate may also be necessary. Genetic counseling may be helpful to families of children with Waardenburg Syndrome.
Therapies: Investigational
This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Waardenburg Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Craniofacial Foundation
3100 Carlisle St., Suite 215
Dallas, TX 75204
1-800-535-3643
FACES
National Association for the Craniofacially Handicapped
Chattanooga, TN 37404
(615) 266-1632
NIH/National Institute of Dental Research
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4261
NIH/National Eye Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5248
Craniofacial Family Association
170 Elizabeth Street, Suite 650
Toronto, Ontario
M5G1X8 Canada
Alexander Graham Bell Association for the Deaf
3417 Volta Place, NW
Washington, DC 20007
(202) 337-5220
National Crisis Center for the Deaf
University of Virginia Medical Center
Charlottesville, VA 22908
(800) 466-9876
(Voice/TDD)
Self-Help for Hard of Hearing People, Inc. (SHHH)
7800 Wisconsin Avenue
Bethesda, MD 20814
(301) 657-2248
National Information Center on Deafness
Gallaudet College
Kendall Green
Washington, DC 20002
(Voice & TDD) (202) 651-5109
National Association of the Deaf
814 Thayer Avenue
Silver Spring, MD 20910
(301) 587-1788
Eye Research Institute of Retina Foundation
20 Staniford St.
Boston, MA 02114
(617) 742-3140
National Federation of the Blind
1800 Johnson Street
Baltimore, MD 21230
(301) 659-9314
American Council of the Blind (ACB)
1211 Connecticut Ave., N.W., Suite 506
Washington, DC 20036
(202) 833-1251
(800) 424-8666
National Organization for Albinism and Hypopigmentation (NOAH)
919 Walnut Street, Room 400
Philadelphia, PA 19107
(215) 545-2322
National Vitiligo Foundation
P.O. Box 6337
Tyler, TX 75711
(214) 561-4700
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
WAARDENBURG SYNDROME IN SOUTH AFRICA. PART I. AN EVALUATION OF THE CLINICAL
FINDINGS IN 11 FAMILIES: M. de Saxe, et al.; South African Med J (August 18, 1984: issue 66,7). Pp. 256-261.
WAARDENBURG SYNDROME IN SOUTH AFRICA. PART II: IS THERE FOUNDER EFFECT
FOR TYPE I?: M. de Saxe, et al.; South African Med J (August 25, 1984: issue 66,8). Pp. 291-293.
POSSIBLE WAARDENBURG SYNDROME WITH GASTROINTESTINAL ANOMALIES: J.
Nutman, et al.; Journal Med Genet (April 1986: issue 23,2). Pp. 175-178.
Waardenburg Syndrome
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Copyright (C) 1988, 1989, 1990 National Organization for Rare Disorders, Inc.
513: Waldenstrom Macroglobulinemia
_________________________
** IMPORTANT **
It is possible the main title of the article (Waldenstrom Macroglobulinemia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article.
Synonyms
Waldenstroem's Macroglobulinemia
Hyperglobulinemic Purpura
Macroglobulinemia
Waldenstrom's Syndrome
Waldenstrom's Purpura
Information on the following disorder can be found in the Related Disorders section of this report:
Lymphocytic Leukemia, Chronic
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Waldenstrom Macroglobulinemia is a malignant lymph and blood cell disorder. Large quantities of homogeneous immunoglobulin-M (IgM) protein molecules are present in the blood. The disorder tends to run in families, occurring mainly among older males. An enlarged spleen and liver with abnormalities of the peripheral lymph glands are the most frequent symptoms. Weakness, anemia, fatigue and excessive bleeding, especially from the nose and mouth, also occur.
Symptoms
Symptoms of Waldenstrom Macroglobulinemia usually begin gradually. The disorder is characterized by anemia, weakness, fatigue, and excessive bleeding from the nose and mouth. Lack of appetite (anorexia) may also occur. Paleness, mild enlargement of the spleen (splenomegaly) and liver (hepatomegaly), and abnormalities of the peripheral lymph glands are the most frequent features of Waldenstrom Macroglobulinemia. Lesions of the retina, accompanied by localized bleeding, fluid oozing from retinal blood vessels (exudation), and blockage of these veins may be the most noticeable features. Blurring or other vision impairment affects approximately one third of persons with this disorder.
Disturbances in the peripheral nervous system may be the initial symptoms which usually involve both sensory and motor nerves (which stimulate muscle contractions). Sudden hearing loss, progressive spinal muscle wasting (atrophy), and multifocal disease of the white brain matter (leukoencephalopathy) may occur in some cases of Waldenstrom Macroglobulinemia. Diffuse infiltrates or isolated masses of lymph cells may occur in the lungs, or fluid may appear in the space between the lungs and their surrounding membrane resulting in breathing difficulty.
A mild to moderate increase of urea in the blood (azotemia) occurs in approximately 20% of cases. This is often associated with "thickening" (dehydration and/or hyperviscosity) of the blood. Kidney failure may occur in rare cases. The accumulation of amyloid, an abnormal glycoprotein, in almost any organ system (systemic amyloidosis) may cause dysfunction in some cases.
Causes
Waldenstrom Macroglobulinemia is an autosomal dominant disorder. Symptoms are caused by an abnormal condition of the blood and lymph cells responsible for synthesis of gamma M macroglobulins. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.)
Affected Population
Waldenstrom Macroglobulinemia is a rare disorder more common among males than females. Symptoms usually begin between 60 and 70 years of age.
Related Disorders
Symptoms of the following disorder can be similar to those of Waldenstrom Macroglobulinemia. Comparisons may be useful for a differential diagnosis:
Chronic Lymphocytic Leukemia is the most common type of Leukemia in people over 50 years of age. It is characterized by fatigue, weight loss, repeated infections and enlarged lymph nodes. Small, well-separated, movable, hard nodes usually occur. The number of lymph cells in the peripheral blood and bone marrow is chronically elevated. In the advanced stages of the disease, bone marrow failure is common, resulting in an abnormally low red blood cell count (anemia) and lack of blood platelets (thrombocytopenia).
Therapies: Standard
Waldenstrom Macroglobulinemia is treated with the cytotoxic alkylating drug chlorambucil which is directed against the abnormal proliferation of lymph and plasma cells. The dosage of this drug must be flexible, depending on white blood cell and blood platelet counts. Cyclophosphamide or a combination of alkylating drugs may also be beneficial. Careful monitoring by a physician experienced in their use is recommended.
Therapies: Investigational
If the blood of patients with Waldenstrom Macroglobulinemia is "too thick" (hyperviscous), plasmapheresis has been used as an experimental treatment. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Waldenstrom Macroglobulinemia.
This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Waldenstrom Macroglobulinemia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
American Cancer Society
1599 Clifton Rd., NE
Atlanta, GA 30329
(404) 320-3333
NIH/National Cancer Institute
9000 Rockville Pike, Bldg. 31, Rm. 1A2A
Bethesda, MD 20892
1-800-4-CANCER
The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment.
NIH/National Heart, Lung and Blood Institute (NHLBI)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
References
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P.472.
POLYNEUROPATHY IN WALDENSTROM'S MACROGLOBULINAEMIA: REDUCTION OF
ENDONEURIAL IgM-DEPOSITS AFTER TREATMENT WITH CHLORAMBUCIL AND PLASMAPHERESIS: C. Meier, et al.; Acta Neuropathol (Berlin) (1984: issue 64(4)). Pp. 297-307.
ALLEVIATION OF OCULAR COMPLICATIONS OF THE HYPERVISCOSITY SYNDROME IN
WALDENSTROM'S MACROGLOBULINEMIA USING PLASMA EXCHANGE: F. Malecaze, et al.; Journal Fr Ophtalmol (1986: issue 9(5)). Pp. 367-371.
PLASMA EXCHANGE AND MODERATE DOSE OF CYTOSTATICS IN ADVANCED MACRO(CRYO)-
GLOBULINEMIA: P. Pihlstedt; Acta Med Scand (1982: issue 212(3)). Pp. 187-190.
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91: Waldmann Disease
_________________________
** IMPORTANT **
It is possible the main title of the article (Waldmann Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Hypoproteinemia, Idiopathic
Intestinal Lymphangiectasia
Intestinal Lymphangiectasis
Primary Intestinal Lymphangiectasia
Primary Intestinal Lymphangiectasis
Familial Hypoproteinemia with Lymphangiectatic Enteropathy
Lymphangiectatic Protein-Losing Enteropathy
Hypercatabolic Protein-Losing Enteropathy
Neonatal Lymphedema due to Exudative Enteropathy
Familial Dysproteinemia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Waldmann Disease may be a congenital or an acquired digestive disorder. It is characterized by dilatation of the intestinal lymphatic system, particularly the lymph vessels in the intestinal villi (lacteals) that transport milky-white, protein-rich lymph (chyle).
Symptoms
Waldmann Disease is characterized by a widening (dilatation) of the lymphatic vessels in the wall of the small intestine. When these vessels rupture, milky white, protein rich lymph (chyle) leaks through the intestinal wall into the bowel lumen. The chyle may also accumulate in the cavity around the intestines (peritoneal cavity), and it may also leak into the cavity around the lungs (pleural cavity).
Swelling of the extremities (edema) also may occur. This usually begins at birth or shortly thereafter. An excessive amount of fat in the feces (steatorrhea), decreased protein in the blood (hypoproteinemia), reduced blood calcium (hypocalcemia), and a reduced number of lymphocytes in the blood (lymphocytopenia) may also occur.
In cases where Waldmann Disease is genetic, it is inherited as a dominant genetic trait.
Causes
Waldmann Disease may be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) It may also be acquired as a consequence of an infection in the major lymphatic ducts. Additionally, it may be caused by an abnormal growth (neoplasm).
Affected Population
Waldmann Disease may affect children and young adults of both sexes.
Related Disorders
Crohn's Disease, also known as Regional Enteritis, is a form of inflammatory bowel disease characterized by severe, often granulomatous, chronic inflammation of the wall of the gastrointestinal tract. In most cases, some part of the intestinal segment between the beginning of the ileum and the rectum is affected. (For more information, choose "Crohn" as your search term in the Rare Disease Database.)
Whipple's Disease (Intestinal Lipodystrophy) is an uncommon disorder of unknown origin. This disorder affects the lining of the small intestine, resulting in malabsorption of nutrients. The disorder may also affect other organs such as the heart, lung, brain, joints, eye, and gastrointestinal tract. (For more information, choose "Whipple" as your search term in the Rare Disease Database.)
Hemolytic-Uremic Syndrome (Gasser Syndrome, or HUS) is a hereditary disorder characterized by hemolytic anemia, decrease in blood platelets (thrombocytopenia) and renal failure. These symptoms are associated with infection and gastroenteritis. HUS occurs most commonly in women with complications of pregnancy, and in children under 5 years of age.
Therapies: Standard
Some patients with Waldmann Disease improve on a low-fat diet, containing whole whey protein and maltodextrin, with supplements of medium-chain fats (triglycerides) and a small amount of long-chain triglycerides to supply essential fatty acids. Occasionally surgical removal of the involved part of the intestine, if the lesion is localized, may be beneficial.
Therapies: Investigational
This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Waldmann Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Lymphatic and Venous Diseases Association
Cambridge Medical Supply
218 Monsignor O'Brien Highway
Cambridge, MA 02141
National Digestive Diseases Information Clearinghouse
Box NDIC
Bethesda, MD 20892
(301) 468-2162
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
DIETARY MANAGEMENT OF INTESTINAL LYMPHANGIECTASIA COMPLICATED BY SHORT GUT
SYNDROME: J.M. Thompson, A. Brett, and S.J. Rose; Human Nutrition and Applied Nutrition (April, 1986: issue 40:2). Pp. 136-140.
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,Copyright (C) 1990 National Organization for Rare Disorders, Inc.
817: Weaver Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Weaver Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Weaver-Smith Syndrome
WSS
Information on the following disorders can be found in the Related Disorders section of this report:
Marshall-Smith Syndrome
Gigantism
Sotos Syndrome
McCune-Albright Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more quickly than average. Other symptoms can include increased muscle tone (hypertonia) with exaggerated reflexes (spasticity), slow development of voluntary movements (psychomotor retardation), specific physical characteristics, and/or foot deformities. Babies with this syndrome have a hoarse low-pitched cry.
Symptoms
In patients with Weaver Syndrome growth and bone development (maturation) occur faster than normal, with normal to above normal weight in relation to the patient's height. Some bones may be wider than average. In a small number of patients, this faster than normal rate of growth may not occur, or does not begin until the baby is a few months old. Hypertonia, increased muscle tone with exaggerated reflexes (spasticity) which is progressive, and/or slow development of voluntary movements (psychomotor retardation) may occur. Babies with this syndrome have a hoarse low-pitched cry.
Individuals with Weaver Syndrome may have extremely wide-set eyes (hypertelorism), sometimes with excess skin over the inner corner of the eyes (epicanthal folds), or other eyelid abnormalities (downslanting palpebral fissures). The back part of the head (occiput) may be flat, the forehead broad, and the ears unusually large. The natural groove located above the upper lip and below the nose (philtrum) may be longer than average. The jaw may appear somewhat smaller than normal (micrognathia). Other physical characteristics can include thin hair, inverted nipples and skin which appears somewhat loose.
Thumbs of people with Weaver Syndrome are usually broad. One or more fingers may be permanently bent (camptodactyly). Nails can be deep-set and thin. The pads of the fingertips are usually prominent. Malformed toes (clinodactyly), an abnormally high arch (pes cavus), a clubfoot with the sole of the foot turned inward and upward either in the direction of the heel (talipes equinovarus) or of the toes (talipes calcaneovalgus), or a twisted foot (metatarsus adductus) may be present. Individuals may not be able to extend their elbows or knees out very far.
In some patients, hernias in the abdomen (inguinal or umbilical hernias) may develop. Occasionally, one of the long bones in the foot (fourth metatarsal) is shorter than average. Brain abnormalities such as enlarged vessels and too many blood vessels (hypervascularization), atrophy (cerebral atrophy), or a cyst in a certain area of the brain (septum pellucidum) may occur in some patients.
Causes
The exact cause of Weaver Syndrome is unknown. Some researchers think, because there have been some cases of mildly affected mothers having sons who are more severely affected, that Weaver Syndrome may be inherited as an autosomal dominant trait with a gender-limited expression of symptoms, or an X-linked recessive trait. Others think that it may be an autosomal recessive trait. In some cases there are no signs of heredity in a family and the cause is unknown.
Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.
X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.
In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.
Affected Population
Weaver Syndrome is a rare disorder affecting males three times more often than females. The syndrome is usually present before birth (prenatal onset).
Related Disorders
Marshall-Smith Syndrome is similar to Weaver Syndrome in that growth and bone maturation occur faster than normal. However, patients with Marshall-Smith Syndrome are underweight in relation to their height whereas patients with Weaver Syndrome have normal to above normal weight in relation to their height. Marshall-Smith Syndrome patients also have respiratory difficulties, different physical characteristics and other symptoms that patients with Weaver Syndrome do not have. (For more information on this disorder, choose "Marshall-Smith" as your search term in the Rare Disease Database).
Gigantism occurs before puberty and is caused by oversecretion of growth hormone. It is characterized by excessive growth during childhood with relatively normal body proportions and sexual development. Height sometimes reaches 7 or 8 feet. Soft tissues are also enlarged. In extreme cases, disease of muscle tissue (myopathy) and abnormalities of nerves distant from the brain and spinal cord (peripheral neuropathy) may occur. Certain hereditary syndromes such as Klinefelter Syndrome, Marfan Syndrome, Soto's Syndrome and some of the lipodystrophies, may include unusually tall height among their symptoms. (For more information on disorders involving gigantism, choose "gigantism or "giant" as your search term in the Rare Disease Database. For more information, choose "peripheral neuropathy," "Marfan," and "Klinefelter" as your search terms in the Rare Disease Database).
Soto's Syndrome is a rare, hereditary disorder characterized by excessive growth (over the 90th percentile) during the first 4 to 5 years of life. Abnormalities of the nervous system, including aggressiveness, irritability, clumsiness, an awkward gait, and mental retardation sometimes also occur. Physical characteristics also include eyes which appear to be abnormally far apart (hypertelorism) and slanted. (For more information, choose "Soto" as your search term in the Rare Disease Database.)
McCune-Albright Syndrome (Osteitis Fibrosa Disseminata) is characterized by an early (precocious) sexual development, a change in bone integrity which produces pain, increasing deformity and disability, and possible changes in skin pigmentation. This syndrome involves the endocrine, muscle and bone systems. Excessive secretion of growth hormone as well as other hormones occurs in some cases. Children with McCune-Albright Syndrome are excessively tall during childhood, but their growth stops early and they usually don't reach normal height during adulthood. (For more information, choose "McCune-Albright Syndrome" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Weaver Syndrome is symptomatic and supportive. An orthopedist can be consulted for correction of foot deformities. Genetic counseling may be of benefit to patients and their families.
Therapies: Investigational
This disease entry is based upon medical information available through November 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Weaver Syndrome, please contact:
National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The Magic Foundation
1327 N. Harlem Ave.
Oak Park, IL 60302
(708) 383-0808
Human Growth Foundation (HGF)
7777 Leesburg Pike
P.O. Box 3090
Falls Church, VA 22043
(703) 883-1773
(800) 451-6434
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Co., 1988. Pp. 130-135.
A GIRL WITH THE WEAVER SYNDROME. E. M. Thompson; J Med Genet (Apr 1987; issue 24 (4)). Pp. 232-234.
A NEW AUTOSOMAL RECESSIVE DISORDER RESEMBLING WEAVER SYNDROME. A. S.
Teebi, et al.; Am J Med Genet (Aug 1989; issue 33 (4)). Pp. 479-482.
FURTHER DELINEATION OF WEAVER SYNDROME. H. H. Ardinger, et al.; J Pediatr (Feb 1986; issue 108 (2)). Pp. 228-235.
THE SYNDROMES OF MARSHALL AND WEAVER. N. Fitch; J Med Genet (Jun 1980; issue 17 (3)). Pp. 174-178.
WEAVER-SMITH SYNDROME. A CASE STUDY WITH LONG-TERM FOLLOW-UP. N. Amir, et al.; Am J Dis Child (Dec 1984; issue 138 (12)). Pp. 1113-1117.
WEAVER SYNDROME: THE CHANGING PHENOTYPE IN AN ADULT. F. Greenberg, et al.; Am J Med Genet (May 1989; issue 33 (1)). Pp. 127-129.
WEAVER SYNDROME WITH PES CAVUS. S. A. Farrell and H. E. Hughes; Am J Med Genet (Aug 1985; issue 21 (4)). Pp. 737-739.
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Copyright (C) 1986, 1989, 1992 National Organization for Rare Disorders, Inc.
297: Weber-Christian Disease
_________________________
** IMPORTANT **
It is possible the main title of the article (Weber-Christian disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Weber-Christian disease is characterized by fever and the formation of crops of nodules in the fatty tissue under the skin (subcutaneous tissue).
Symptoms
Weber-Christian disease usually begins gradually. Bluish-red (erythematous) nodules appear in the fatty layer under the skin of arms, legs, thighs, buttocks and abdomen. The overlying skin usually appears red. Enlargement of the spleen and lymph nodes is possible. Fever also occurs. Other symptoms may include malaise, a sore throat, chills, nausea, anemia, pain in the joints, muscles and possibly the abdomen. These symptoms may subside after a few days or weeks, and may recur weeks, months or years later.
Causes
The cause of Weber-Christian disease is generally unknown. Sometimes the cause may be identified as an allergy, or possibly a predisposition of fatty tissue to a granulomatous reaction.
Occasionally Weber-Christian disease can be associated with diabetes mellitus, systemic lupus erythematosus, subacute bacterial endocarditis, tuberculosis, iodide and bromide therapy, withdrawal from large doses of corticosteroids, or pancreatitis.
Affected Population
Weber-Christian disease most often affects adult women, usually between the ages of 20 and 40 years.
Therapies: Standard
Treatment of Weber-Christian disease is symptomatic and supportive. If the disorder is associated with a secondary condition, treatment of that disorder can alleviate the symptoms of Weber-Christian disease.
Therapies: Investigational
Treatment of Weber-Christian disease with oral cyclophosphamide (a cytostatic drug), has shown some promise in preliminary clinical trials.
The orphan drug thalidomide is being tested as a treatment for Weber-Christian Disease. This drug should not be taken by pregnant women because it can cause severe birth defects. Physicians wishing to test thalidomide as a treatment for this disorder may contact:
Pediatric Pharmaceutical
379 Thornall St.
Edison, NJ 08837
Thalidomide is available in England under special license from Penn Pharmaceuticals of Tredegar, South Wales.
This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Weber-Christian Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
References
Cyclophosphamide-Induced Remission in Weber-Christian Panniculitis; W. Kirch et al.: Rheumatol. Int. 1985; 5(5): pp. 239-240.
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Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
388: Weil Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Weil Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Fiedler Disease
Icterohemorrhagic Leptospirosis
Infectious Jaundice
Lancereaux-Mathieu-Weil Spirochetosis
Leptospiral Jaundice
Spirochetal Jaundice
Weil Disease
Information on the following diseases can be found in the Related Disorders section of this report.
Meningitis
Leptospirosis
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Weil Syndrome is a severe form of bacterial infection caused by Leptospira bacteria (Leptospirosis). This type of infection causes dysfunction of the liver and kidneys.
Symptoms
Symptoms of Weil Syndrome usually start abruptly, with headache, disturbances in consciousness, pain in muscles and abdomen, a stiff neck, lack of appetite (anorexia), chills, nausea, vomiting, and fever. Prostration, coughing, expectoration of blood-stained sputum (hemoptysis), and nosebleed (epistaxis) may also occur. Yellowing of the skin (jaundice), bleeding in muscles, gastrointestinal tract, and visceral organs may be widespread. Small purplish-red spots (petechiae) may appear, caused by hemorrhages in the skin. Enlarged lymph nodes, and continued fever may occur for several days. Respiratory distress syndrome which includes great difficulty breathing and dangerously low levels of oxygen in the blood (hypoxemia) may sometimes develop in Weil Syndrome.
Signs of liver and kidney dysfunction usually appear from the 3rd to the 6th day. Kidney abnormalities may include the appearance of protein (proteinuria), pus (pyuria), or blood in the urine (hematuria), and an excess of urea in the blood (azotemia). The kidney is often enlarged, and its capsule is tense. Bleeding in many places throughout the body may occur due to injury of tiny blood vessels (capillaries). A low number of blood platelets (thrombocytopenia) may also occur. Damage to the liver is usually minimal and complete healing almost always occurs. Fever usually abates on the 7th day, but it may be recurrent for weeks. After age 50 the prognosis for Weil Disease is less optimistic than for younger people.
Causes
Weil Disease is caused by an infection from the bacteria Leptospira icterohemorrhagiae or other related types of this bacteria (such as L canicola, or L pomona). The infection is usually transferred to humans through urine or tissue of an infected domestic or wild animal. The infection enters through a skin abrasion or the mucous membranes.
Affected Population
Weil Syndrome may occur in people of all ages. At least 75% of persons infected with this disorder are male. It can be an occupational disorder striking farmers, veterinarians, or sewer and abattoir workers, but most patients are exposed incidentally during recreational activities.
Related Disorders
Many types of bacterial infections may affect the liver, kidneys and respiratory organs, causing symptoms similar to those of Weil Syndrome.
Leptospirosis is an inclusive term for all bacterial infections caused by any Leptospira bacteria, regardless of the type. (For more information, choose "Leptospirosis" as your search term in the Rare Disease Database.)
Meningitis is an infection of the membrane lining the skull or the spinal cavity (meninges) by either bacteria or viruses.
Therapies: Standard
Antibiotics such as penicillin, streptomycin, the tetracyclines, chloramphenicol, and erythromycin may be effective if used before the 4th day after onset of symptoms of Weil Syndrome. Peritoneal dialysis in combination with antibiotics has been used successfully in many patients.
Therapies: Investigational
Studies are underway to determine the role of antigens and antibodies in treating Weil Syndrome infections, including Weil Syndrome. However, treatments have not been established as yet.
This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Weil Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
(404) 639-3534
NIH/National Institute of Allergy and Infections Diseases (NIAID)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
References
ADULT RESPIRATORY DISTRESS SYNDROME IN LEPTOSPIRA ICTEROHAEMORRHAGIAE
INFECTION: H.D. Chee, et al.; Intensive Care Medicine (1985: issue 11,5). Pp. 254-256.
CURRENT CLINICAL ASPECTS OF LEPTOSPIROSIS: F. Suter, et al.; Minerva Medica (May 12, 1983: issue 74,20). Pp. 1179-1186. (Published in Italian.)
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`$R$Copyright (C) 1992 National Organization for Rare Disorders, Inc.
893: Weill-Marchesani Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Weill-Marchesani Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article.
Information on the following diseases can be found in the Related Disorders section of this report:
Ectopia Lentis
Kniest Syndrome
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Weill-Marchesani Syndrome is a rare genetic disorder inherited as an autosomal recessive trait. The major features of this disorder are short stature and a congenital vision defect in which the lens of the eye is unusually rounded and may dislocate.
Symptoms
People with Weill-Marchesani Syndrome have a stocky build, tend to become heavy, and have limbs that are short and round. The face is full, with a wide skull, short neck, depressed nasal bridge, and pug nose. The orbit that contains the eyeball is shallow, the lens in the eye is small and tends to dislocate, and nearsightedness occurs.
Other symptoms found in some people with Weill-Marchesani Syndrome may be: joint stiffness with limited extension; an abnormal condition of high pressure within the eye causing eye pain, blurred vision, and a wide-open pupil (acute glaucoma); a condition in which the lens is dislocated (ectopia lentis); mild underdevelopment of the jaw bone; a narrow roof of the mouth (palate); teeth that do not form properly or do not conform to the dental arch; and/or a sensation of numbness, tingling, burning, or pain in the hand or wrist caused by compressing of peripheral nerves (Carpal Tunnel Syndrome). (For more information on this disorder choose "Carpal Tunnel" as your search term in the Rare Disease Database). Blindness has occurred in some people with Weill-Marchesani Syndrome.
Causes
Weill-Marchesani Syndrome is thought to be inherited as an autosomal recessive trait with partial expression in the heterozygote. Dominant inheritance has also been suggested.
Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.
In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.
Heterozygous is a condition in which a person has two different genes at the same place on matched chromosomes. An individual who is heterozygous for a particular trait has inherited a gene for that trait from one parent and the alternative gene from the other parent. A person heterozygous for a genetic disease caused by a dominant gene will show the disease. An individual heterozygous for a hereditary disorder produced by a recessive gene will not show the disease or will have a milder form of it. The offspring of a heterozygous carrier of a genetic disorder will have a fifty percent chance of inheriting the gene dominant for the trait.
Affected Population
Weill-Marchesani Syndrome is a rare disorder that affects males and females in equal numbers. This disorder has been found worldwide and affects approximately one out of every one hundred thousand people. The average age for detection of Weill-Marchesani Syndrome is seven, even though symptoms of the disorder are usually apparent earlier in life.
Related Disorders
Symptoms of the following disorders can be similar to those of Weill-Marchesani Syndrome. Comparisons may be useful for a differential diagnosis:
Ectopia Lentis is a congenital displacement of the lens of the eye. This disorder may occur alone or as a part of other disorders. When Ectopia Lentis occurs alone it is inherited as an autosomal dominant trait. The dislocation of the lens of the eye may be present at birth or occur later. Some people with Ectopia Lentis have no symptoms at all while others may have poor vision and/or double vision.
Kniest Syndrome is a rare type of dwarfism that is characterized by unusually short arms and legs, a round face with hollow or depressed areas, swelling and stiffness of the joints, and a stiff drawing up (contractures) of the fingers. A cleft palate, curvature of the spine (scoliosis), vision and hearing problems may also occur. (For more information on this disorder, choose "Kniest Syndrome" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment with drugs or eye drops may help to reduce the pressure within the eyeball of people with Weill-Marchesani Syndrome.
Surgery may be performed to create a new outflow channel for the fluid causing pressure behind the eye or the lens may be removed when glaucoma is present.
Patients with Carpal Tunnel Syndrome may be treated with steroidal and non-steroidal medications when the symptoms are mild. Splinting to immobilize the wrist is often recommended. When the symptoms are severe and conservative measures fail, surgical decompression of the carpal canal in the wrist can be performed. If pressure on the median nerve has persisted for a prolonged period of time, recovery may be incomplete.
Genetic counseling may be of benefit for patients with Weill-Marchesani Syndrome and their families.
Therapies: Investigational
Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future.
This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Weill-Marshall Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Eye Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5248
The Magic Foundation
1327 N. Harlem Ave.
Oak Park, IL 60302
(708) 383-0808
Human Growth Foundation (HGF)
7777 Leesburg Pike
P.O. Box 3090
Falls Church, VA 22043
(703) 883-1773
(800) 451-6434
Little People of America
P.O. Box 633
San Bruno, CA 94066
(415) 589-0695
American Carpal Tunnel Syndrome Association
P.O. Box 514
Santa Rosa, CA 95402-0514
(707) 571-0397
NIH/National Institute of Child Health and Human Development (NICHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1532.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 397.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1575.
THE WEILL-MARCHESANI SYNDROME: REPORT OF TWO CASES AND A REVIEW: G.M.
Haik Sr, et al.; J La State Med Soc (December, 1990, issue 142(12)). Pp. 25-8, 30-2.
Weill-Marchesani Syndrome
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)z)Copyright (C) 1985, 1986, 1987, 1988, 1989, 1992 National Organization for Rare Disorders, Inc.
36: Werdnig-Hoffman Disease
_________________________
** IMPORTANT **
It is possible that the main title of the article (Werdnig-Hoffman) Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article.
Synonyms
Infantile Spinal Muscular Atrophy
Werdnig-Hoffman Paralysis
Spinal Muscular Atrophy Type I
SMA I
SMA, Infantile Acute Form
Information on the following diseases can be found in the Related Disorders section of this report:
Muscular Dystrophy, Batten Turner
Leukodystrophy, Canavan
Olivopontocerebellar Atrophy (OPCA)
Benign Congenital Hypotonia
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Werdnig-Hoffmann Disease is a rare inherited neuromuscular disorder of children. It is characterized by degenerative changes in the spinal cord (the ventral horn cells). This results in generalized muscle weakness and the progressive wasting away (atrophy) of the muscles of the trunk and extremities.
Symptoms
Werdnig-Hoffman Disease is a rare disorder that may begin in the developing fetus (in utero) or before 2 years of age. The earlier the onset, the more serious the outcome usually is. The early signs include a generalized muscle weakness (hypotonia) and hypermobility of joints; absent tendon reflexes; twitching (fasciculations) of the tongue; and a frog-like position with the hips moved apart (abducted) and knees bent or flexed. Mental development is usually normal. Typically, the child does not gain head control, cannot turn over and is unable to sit or stand.
The rate of progression of Werdnig-Hoffman Disease varies. In the form that begins in utero, generalized muscle atrophy and weakness tend to progress rapidly. Within a few months, breathing (respiratory) and excretory difficulties may develop. The infant may be unable to swallow. Respiratory failure may occur or food inhaled into the lungs (aspiration) may cause choking.
The form of Werdnig-Hoffman Disease that begins during the first few months of life may have a more slowly progressive course, even extending into adult life. In rare cases, the disease may become arrested.
Causes
Werdnig-Hoffmann Disease is a rare disorder usually inherited as an autosomal recessive trait. In rare instances this disorder may be inherited as an autosomal dominant trait.
Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.
In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.
The gene that causes the most common recessive form of Werdnig-Hoffman Disease has been located on the long arm of chromosome 5.
Affected Population
Werdnig-Hoffman Disease is a very rare disorder that affects males and females in equal numbers. There may be no known family history of the disease, since the genetic defect is recessive in most cases. This disorder occurs in an estimated 1 in 1,000,000 live births per year.
Related Disorders
Symptoms of the following disorders can be similar to those of Werdnig-Hoffman Disease. Comparisons may be useful for a differential diagnosis:
Batten Turner Muscular Dystrophy is a form of muscular dystrophy that is present at birth. The initial symptoms of this disorder in the infant may be a generalized "floppiness" and lack of muscle tone (hypotonia). Later muscular weakness may make the child prone to falling and stumbling. Early motor development and milestone achievements may be minimally delayed. As a rule, walking becomes normal later in life, but physical activities may be hampered. (For more information on this disorder, choose "Batten Turner Muscular Dystrophy" as your search term in the Rare Disease Database).
Canavan Leukodystrophy is a rare inherited disorder that is characterized by the progressive degeneration of the central nervous system. The early symptoms of this disorder include a general lack of energy, floppiness, and the loss of previously acquired motor skills. (For more information on this disorder, choose "Canavan Leukodystrophy" as your search term in the Rare Disease Database).
Olivopontocerebellar Atrophy (OPCA) is a rare neurological disorder that is characterized by the degeneration of the cerebellar cortex. This disorder usually affects adults but it may occur in infants. In cases affecting children the disorder is inherited as an autosomal recessive trait. Symptoms include floppiness (severe hypotonia) and generalized muscle weakness, the lack of deep reflexes and a general failure to thrive. There may also be an enlargement of the heart, respiratory complications and dislocation of the hips. (For more information on this disorder, choose "Olivopontocerebellar Atrophy" as your search term in the Rare Disease Database).
Benign Congenital Hypotonia is a nonprogressive neuromuscular disorder which occurs at birth. The disorder is characterized by a generalized muscle weakness or "floppiness" (hypotonia). Infants with Benign Congenital Hypotonia also appear weak and listless. In many cases the symptoms improve as the child ages and the central nervous system matures. (For more information on this disorder, choose "Benign Congenital Hypotonia" as your search term in the Rare Disease Database).
For more information on disorders that cause muscle weakness, type "neuromuscular" as your search term in the Rare Disease Database.
Therapies: Standard
Treatment of Werdnig-Hoffman Disease is symptomatic and supportive. Physical therapy, respiratory care, and aggressive treatment of respiratory infections are used. Orthopedic devices may be helpful when the condition is relatively stable.
Genetic counseling will be of benefit for patients and their families.
Therapies: Investigational
Scientists have been investigating the possibility that nerve cells contain nourishing (trophic) substances essential to the maintenance of health in the muscle cells that they stimulate. Researchers are trying to develop treatments that may replace these substances in muscles.
The orphan drug Ciliary Neutrotrophic Factor, Recombinant Human, is being tested as a possible treatment for spinal muscular atrophies. The drug is manufactured by Syntex-Synergen Neuroscience, 1885 33rd Street, Boulder, CO, 80301.
The Muscular Dystrophy Association (MDA) supports basic and applied studies on nerve and muscle metabolism in the hope that these will lead to a better understanding of the biological processes that give rise to neuromuscular diseases such as Werdnig-Hoffmann disease.
Research on genetic defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project that is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future.
This disease entry is based upon medical information available through October 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Werdnig-Hoffman disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Families of Spinal Muscular Atrophy
P.O. Box 1465
Highland Park, IL 60035
(708) 432-5551
Muscular Dystrophy Association, National Office
3300 E. Sunrise Dr.
Tucson, AZ 85718
(602) 529-2000
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
Muscular Dystrophy Group of Great Britain and Northern Ireland
Nattrass House
35 Macaulay Road
London, England SW4 OQP
01-720-8055
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1563-1564.
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 2140.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1576-1577.
PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 1146-1147.
EMG EVALUATION OF THE FLOPPY INFANT: DIFFERENTIAL DIAGNOSIS AND TECHNICAL
ASPECTS. H.R. Jones Jr.; Muscle Nerve (April 1990; 13(4)): Pp. 338-347.
Werdnig-Hoffman Disease
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Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.
135: Werner Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Werner Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Progeria of Adulthood
Please note: Werner syndrome also refers to a form of dwarfism that is unrelated to progeria. It is known as Werner's mesomelic dwarfism.
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section.
Werner syndrome is a rare form of premature ageing which begins in early adulthood. It affects both males and females.
Symptoms
Werner syndrome progresses steadily. Affected individuals appear normal until adolescence, when developmental retardation begins. Stature remains short, and sexual organs fail to complete normal enlargement and development. Secondary sex characteristics such as pubic, axillary, and facial hair are absent or regress.
Other abnormalities of Werner syndrome also appear during adolescence or young adulthood. The limbs are thin and weak, with small hands and feet, and short, deformed fingers. Typical facial characteristics include a beaked nose, prominent eyes, thinned eyebrows and lashes, grey hair, and, eventually, baldness. The torso tends to be stocky, but elsewhere, muscular mass and subcutaneous fat are lost, allowing the skeleton to become prominent.
The skin becomes shiny and taut, with sclerodermatoid changes; these consist of a chronic hardening and shrinking of the connective tissues, so that the skin becomes hard, thickened, and rigid. Sometimes the disorder resembles scleroderma, but it can be differentiated by the fact that mainly males are affected, its early onset and clinical course (premature ageing changes).
Other features include arteriosclerosis, the frequent development of cataracts before the age of forty years, a susceptibility to ulcerations on the legs, and diabetes mellitus. Soft tissues atrophy, while the bones become thin, fragile, and often painful and deformed due to osteoporosis, or demineralization. There may be osteoarthritis. Calcification occurs in the extremities and the heart, particularly the valves and coronary arteries. Other potentially fatal complications include cerebral stroke and cancers.
Werner syndrome can occur in partial forms, exhibiting only a few of the symptoms described, and having a milder, slower course.
Causes
Werner syndrome appears to be hereditary, with an autosomal recessive mode of transmission. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Another theory is that spontaneous loss, or deletion, of chromosomal (chromosomal instability) is responsible for the premature aging that occurs in Werner Syndrome.
The biochemical defect(s) responsible for Werner syndrome are not known. Faulty metabolism of steroids, such as certain hormones, bile acids, and cholesterol may be involved.
Affected Population
Males and females over the age of about fourteen years are affected with Werner's syndrome.
Related Disorders
Hutchinson-Gilford syndrome is a similar syndrome with onset in early childhood. In Gottron syndrome, only the extremities are affected. (For more information on Hutchinson-Gilford syndrome and Gottron syndrome, choose "hutchinson" and "gottron" as your search terms in the Rare Disease Database.)
Therapies: Standard
Available treatments for Werner syndrome are supportive and symptomatic. They include surgery for cataracts, skin grafting for ulcerations, etc.
Therapies: Investigational
This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Werner Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The Progeria International Registry (PIR)
New York State Institute for Basic Research in Developmental Disabilities
1050 Forest Hill Road
Staten Island, NY 10304
(718) 494-0600
Progeria Foundation
3 Styvesant Oval, 9A
New York, NY 10009
The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
References
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1202.
Dr. Raymond Monnat and Dr. George M. Martin, Department of Pathology, University of Washington, Seattle, WA.
Werner Syndrome
pagetitle
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4Copyright (C) 1986, 1990, 1993 National Organization for Rare Disorders, Inc.
90: Whipple's Disease
_________________________
** IMPORTANT **
It is possible that the main title of the article (Whipple's Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article.
Synonyms
Intestinal Lipodystrophy
Secondary Non-tropical Sprue
Intestinal Lipophagic Granulomatosis
Information on the following diseases can be found in the Related Disorders section of this report:
Crohn's Disease
Ulcerative Colitis
Primary Sclerosing Cholangitis
Chronic Erosive Gastritis
Glucose-Galactose Malabsorption
Irritable Bowel Syndrome
Intestinal Pseudoobstruction
Giant Hypertrophic Gastritis
AIDS
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Whipple's Disease is a rare infectious disease that causes an abnormality in the metabolism and/or usage of fats (lipodystrophy) in the small intestine (localized) characterized by impairment of the ability to properly absorb nutrients (malabsorption), anemia, and joint pain. This disorder may also affect other organs of the body including the heart, lungs, brain, and eyes.
Symptoms
The major symptoms of Whipple's Disease include abdominal pain after eating, joint pain, bouts of diarrhea, cough, chest pain, general weakness, and night sweats. Typically there is fat present in the stool (steatorrhea). Weight loss may occur because of a profound lack of appetite (anorexia). Anemia may result due to insufficient levels of iron.
Other symptoms of Whipple's Disease may include: abnormally enlarged lymph nodes that are firm but usually not tender, an abnormally enlarged spleen (splenomegaly), increased color (pigmentation) of the skin, a decrease in blood pressure (hypotension), and abnormally high fevers that come and go. Some people with this disorder may experience a decrease in intellectual abilities, and an impairment of memory, judgment, and/or abstract thought. Occasionally the loss of intellectual skills progresses to dementia. Eye movements may be impaired and uncontrolled muscular movements (myoclonus) may occur when Whipple's Disease has affected the brain or central nervous system. (For more information on this disorder, choose "Myoclonus" as your search term in the Rare Disease Database.)
The central nervous system is affected in the later stages of untreated Whipple's Disease. Symptoms of neurological involvement may include hearing loss, persistent ringing in the ears (tinnitus), and impairment of vision. (For more information on this disorder, choose "Tinnitus" as your search term in the Rare Disease Database.) In rare cases of this disorder, the heart may be affected resulting in congestive heart failure and/or inflammation of the membranes that surround the heart (pericarditis).
If Whipple's Disease remains untreated and malabsorption from the small intestine becomes worse, the person may have low levels of circulating calcium and magnesium in the blood (hypokalemia and hypomagnesemia) resulting in muscle cramps, convulsions, and twitching (tetany). Damage to the nerves, especially those of the arms and legs (peripheral neuropathy) may also occur. (For more information on these disorders, choose "Neuropathy, Peripheral" as your search term in the Rare Disease Database.)
Whipple's Disease may be diagnosed by ultrasound tests and CT scan that may reveal abnormally enlarged lymph nodes (lymphadenopathy) and/or a thickening of the lining of the small intestine. Biopsy samples of the small intestine reveal the presence of the bacteria that causes this disorder. Without proper antibiotic treatment, Whipple's Disease may result in life-threatening complications.
Causes
Whipple's Disease is caused by a "rod-shaped" bacterium called Tropheryma whippelii.
Affected Population
Whipple's Disease is a rare disorder that affects more males than females in a ratio of 8 males to 1 female. The symptoms of this disorder typically begin between the ages of thirty and sixty years. Most of the cases of Whipple's Disease have been diagnosed in Americans of European descent, although cases have been reported among American Indians and Americans of African descent.
Related Disorders
Symptoms of the following disorders can be similar to those of Whipple's Disease. Comparisons may be useful for a differential diagnosis:
Crohn's Disease is an inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract. Symptoms may include vomiting, fever, night sweats, loss of appetite, general weakness, and waves of abdominal pain and discomfort. Diarrhea and bleeding from the rectum are common in people who have Crohn's Disease. Weight loss is also common. The symptoms of this disorder can be difficult to manage and diagnosis is often delayed. (For information on this disorder, choose "Crohn's Disease" as your search term in the Rare Disease Database.)
Ulcerative Colitis is an acute inflammatory bowel disease characterized by diarrhea and blood in the stools because of multiple, irregular ulcerations of the bowel. The initial symptoms of this disorder may include a general feeling of weakness (malaise) and fatigue. There may be abdominal discomfort, along with a change in the frequency and consistency of stools. Other symptoms may include abdominal pain, cramping, and urgency (tenesmus). Weight loss and a decrease in appetite are also associated with Ulcerative Colitis. (For more information on this disorder, choose "Ulcerative Colitis" as your search term in the Rare Disease Database.)
Primary Sclerosing Cholangitis is a rare collagen disorder involving inflammation and blockage of the bile duct, liver ducts, and gallbladder. Symptoms of this disorder include abdominal pain, loss of appetite, nausea, vomiting, and/or weight loss. Later symptoms may include a yellow discoloration to the skin (jaundice), fever, chills, and/or itching of the skin. Bacterial infections may be associated with bile duct blockages of Primary Sclerosing Cholangitis. (For more information on this disorder, choose "Primary Sclerosing Cholangitis," as your search term in the Rare Disease Database.)
Chronic Erosive Gastritis is an inflammatory digestive disorder characterized by multiple lesions in the mucus lining of the stomach. Symptoms of this disorder may include burning or a heavy feeling in the stomach, mild nausea, vomiting, loss of appetite and general weakness. In severe cases of Chronic Erosive Gastritis there may be bleeding from the stomach that can result in anemia. (For more information on this disorder, choose "Chronic Erosive Gastritis" as your search term in the Rare Disease Database.)
Glucose-Galactose Malabsorption (carbohydrate intolerance) is a rare inherited disorder characterized by the inability of the small intestine to transport and absorb glucose and galactose. The symptoms may include diarrhea, bloating, dehydration, profound loss of appetite, and vomiting. Other symptoms may include abdominal cramps, and rumbling sounds caused by gas in the intestine (borborygmi), and/or excessive urination. (For more information on this disorder, choose "Glucose-Galactose Malabsorption" as your search term in the Rare Disease Database.)
Irritable Bowel Syndrome, also known as Spastic Colon, is a common digestive disorder that involves both the small intestine and the large bowel. This disorder is characterized by abdominal pain, constipation, bloating, nausea, headache, and/or diarrhea. The spastic colon type of this syndrome is characterized by variable bowel movements and abdominal pain that is associated with periodic constipation or diarrhea. Those patients with Irritable Bowel Syndrome who have painless diarrhea may experience an urgent need to defecate upon arising. (For more information on this disorder, choose "Irritable Bowel Syndrome" as your search term in the Rare Disease Database.)
Intestinal Pseudoobstruction is a gastrointestinal disorder characterized by a lack of motility of the intestine. This condition resembles a true obstruction although there is no evidence of any physical obstruction. Symptoms may include constipation, colicky pain, vomiting, and weight loss. Intestinal Pseudoobstruction may also affect speech, muscle activity, and the nervous system. (For more information on this disorder, choose "Intestinal Pseudoobstruction, Intestinal" as your search term in the Rare Disease Database.)
Giant Hypertrophic Gastritis is a chronic disorder characterized by the presence of large, coiled ridges or folds, in the inner wall of the stomach. Symptoms include abdominal pain or discomfort and tenderness in the upper middle region of the abdomen. Other symptoms may include a profound loss of appetite, nausea, vomiting, and diarrhea. (For more information on this disorder, choose "Giant Hypertrophic Gastritis" as your search term in the Rare Disease Database.)
Acquired Immune Deficiency Syndrome (AIDS) is an immunosuppressive disorder caused by infection with the human immunodeficiency virus (HIV). The immune deficiency is a result of a viral infection and the destruction of specific T cells. Initially HIV infection is characterized by a period without symptoms. This may be followed by the development of swollen lymph nodes (lymphadenopathy). Eventually most people with Acquired Immune Deficiency Syndrome experience a progression of symptoms that occur as a result of a compromised immune system. When a person with AIDS has an intestinal infection with Mycobacterium avium intracellulare, the symptoms may be confused with those of Whipple's Disease. (For more information on this disorder, choose "AIDS" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Whipple's Disease includes the use of antibiotics. Many different types have been helpful; e.g., tetracycline, chlortetracycline, sulfasalizine, ampicillin, trimethoprim, and penicillin. Other patients may be treated with a combination of antibiotics including tetracycline, streptomycin, and penicillin or trimethoprim and sulfamethoxazole. Antibiotic therapy may be necessary for a few months to several years. In rare cases with severe symptoms associated with Whipple's Disease, corticosteroid drugs (e.g., prednisone) may be added to the antibiotic regimen.
Some people with severe intestinal malabsorption caused by Whipple's Disease may require the intravenous administration of fluids and electrolytes. Other patients may require iron, folate supplements, vitamin D, and calcium. Since most patients with this disorder suffer from malnutrition, the recommended diet is usually high in calories and protein. The diet should be monitored regularly by a physician.
While the symptoms of Whipple's Disease may improve rapidly with long-term antibiotic therapy, biopsy may reveal bacteria in the small intestine for up to two years. Whipple's Disease has been completely reversed by antibiotic therapy. The absence of bacilliform (rod shaped bacteria) in a biopsy sample of the small bowel typically suggests remission and possible cure.
Therapies: Investigational
This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Whipple's Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Digestive Diseases Information Clearinghouse
Box NDIC
Bethesda, MD 20892
(301) 468-2162
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
(404) 639-3534
References
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 698, 1560.
THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 824-5, 829, 801.
GASTROINTESTINAL DISEASE, 4TH Ed.; Marvin H. Sleisenger, M.D. et al.; W.B. Saunders Co., 1989. Pp. 1302-06.
WHIPPLE'S DISEASE, FAMILIAL MEDITERRANEAN FEVER, AND ADULT-ONSET STILL'S
DISEASE. A. McMenemy; Curr Opin Rheumatol (Aug 1991; 3(4)). Pp. 597-600.
IDENTIFICATION OF THE UNCULTURED BACILLUS OF WHIPPLE'S DISEASE. D.A.
Relman; N Engl J Med (Jul 30, 1992;327(5)). Pp. 293-301.
SHORT-TERM ANTIBIOTIC TREATMENT IN WHIPPLE'S DISEASE. J.C. Bai; J Clin Gastroenterol (Jun 1991; 13(3)). Pp. 303-7.
Whipple's Disease
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824: Wieacker Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Wieacker Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Wieacker-Wolff Syndrome
WWS
Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia
Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy
Information on the following disorders can be found in the Related Disorders section of this report:
Apraxia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Wieacker Syndrome is a rare genetic disorder characterized by deformities of the feet (contracture), muscle atrophy, mild mental retardation and impairment of the ability to move the eyes, face and tongue muscles despite the wish to do so.
Symptoms
Symptoms of Wieacker Syndrome include deformities of the feet (contracture), slowly progressive atrophy of certain muscles, and mild mental retardation. Other symptoms are impairment or inability to move the eyes despite the wish to do so, and impairment in the use of face and tongue muscles. Wieacker Syndrome affects males and is present at birth.
Causes
Wieacker Syndrome is inherited as an X-linked recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.
Affected Population
Wieacker Syndrome is a rare genetic disorder present at birth which affects males.
Related Disorders
Symptoms of the following disorders can be similar to those of Wieacker Syndrome. Comparisons may be useful for a differential diagnosis:
Apraxia is a disorder of brain function characterized by the inability to perform learned movement on command, even though the command is understood and there is a willingness to perform the movement. The affected individual has the physical ability to move, but can not. Apraxia is caused by a lesion in the neural pathways of the brain that contain the learned patterns of movement. It is often a symptom of other neurological disorders. (For more information on this disorder, choose "Apraxia" as your search term in the Rare Disease Database).
Therapies: Standard
Genetic counseling may be of benefit for patients with Wieacker Syndrome and their families. Other treatment is symptomatic and supportive. Physical therapy, surgery, speech therapy, and special education can be of benefit especially if started as early as possible.
Therapies: Investigational
Researchers believe that Wieacker Syndrome originates from the long arm of the X chromosome. Genetic studies and research on this disorder are ongoing. Detection of the female carrier condition may be possible in some instances.
This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Wieacker Syndrome, please contact:
National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812-1783
203) 746-6518
The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1990. Pp. 1732.
A NEW X-LINKED SYNDROME WITH MUSCLE ATROPHY, CONGENITAL CONTRACTURES, AND
OCULOMOTOR APRAXIA. P. Wieacker, et al.; Am J Med Genet (Apr 1985; issue 20 (4)). Pp. 597-606.
CLOSE LINKAGE OF THE WIEACKER-WOLFF SYNDROME TO THE DNA SEGMENT DXYS IN
PROXIMAL Xq. P. Wieacker, et al.; Am J Med Genet (Sept 1987; issue 28 (1)). Pp. 245-253.
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446: Tyrosinemia, Hereditary
_________________________
** IMPORTANT **
It is possible the main title of the article (Hereditary Tyrosinemia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Tyrosinemia, Hereditary, Hepatorenal Type
Tyrosyluria
DISORDER SUBDIVISIONS
Acute Form Hereditary Tyrosinemia
Chronic Form Hereditary Tyrosinemia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about the disorders, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tyrosinemia is a rare inborn error of metabolism involving the amino acid tyrosine associated with a lack of the enzyme fumarylacetoacetase parahydroxyphenylpyruvic acid (p-HPPA) oxidase. The disorder is characterized by elevated levels of tyrosine and its metabolites (including succinylacetone) in the urine. It causes developmental delay and profound liver dysfunction, kidney problems, and liver cell cancer. There are often neurologic problems causing peripheral nerve palsy and paralysis.
Symptoms
The acute form of Tyrosinemia starts at birth, and is characterized by failure to thrive and liver enlargement with or without a distended abdomen. Vomiting, swelling (edema), fluid accumulation in the abdomen (dropsy or ascites), and moderate mental retardation may occur in at least half of the cases. Anemia, yellow tinted skin (jaundice), the passing of dark, bloody stools (melena), an enlarged spleen, blood in the urine (hematuria), diarrhea and spontaneous bruising (ecchymoses) occur in nearly one-third of patients with acute Tyrosinemia. The most serious complications involve neurologic crises.
The chronic form of hereditary Tyrosinemia occurs in a relatively smaller number of patients. Symptoms develop as a complication of kidney malfunction and may include softened bones (rickets) and a mild liver disease (cirrhosis). Mental retardation and other neurologic abnormalities may also occur. Liver cell cancer also occurs.
Causes
Tyrosinemia is a hereditary disorder probably transmitted by autosomal recessive genes. The genetic abnormality causes insufficient levels of the enzyme parahydroxyphenylperuvic acid (p-HPPA) oxidase. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.)
Affected Population
Tyrosinemia in the acute form affects approximately one in 100,000 newborns in the United States. Both sexes are affected in equal numbers. The chronic form of this disorder affects far fewer patients than the acute form.
Therapies: Standard
Prenatal diagnosis of children at risk for Tyrosinemia can be made from identification of amniotic cells in the uterus with a reduced activity of the enzyme fumarylacetoacetase or by detection of succinylacetone in amniotic fluid.
The intake of the amino acids phenylalanine and tyrosine must be restricted in the diet of patients with Tyrosinemia. Since these amino acids occur in all foods, the diet must be severely restricted and medical foods or formulas substituted. However, some forms of Tyrosinemia do not respond to dietary restrictions. There are several disorders that mimic Tyrosinemia. Proper diagnosis is essential before long-term dietary treatment is initiated. Liver transplantation has proven to be helpful for severely affected patients. Genetic counseling is highly recommended. Other treatment is symptomatic and supportive.
Therapies: Investigational
A new drug is being studied for treatment of Hereditary Tyrosinemia. The drug called NTBC is manufactured by ICI and is being supplied by Professor Lindstedt of Gothenburg University in Sweden. For more information physicians may contact:
Professor Lindstedt
Dept. of Clinical Chemistry
Gothenburg University
Sahlgren's Hospital
S-413 45 Gothenburg, Sweden
This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Hereditary Tyrosinemia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Rd.
Crewe CW1 1XN, England
Telephone: (0270) 250244
National Digestive Diseases Information Clearinghouse
Box NDDIC
Bethesda, MD 20892
(301) 468-6344
Jess Thoene, M.D.
Department of Pediatrics
University of Michigan
School of Medicine
Ann Arbor, MI 48109
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.: McGraw-Hill, 1983. Pp. 288-394.
PRENATAL DIAGNOSIS OF HEREDITARY TYROSINEMIA BY DETERMINATION OF
FUMARYLACETOACETASE IN CULTURED AMNIOTIC FLUID CELLS: E.A. Kvittingen, et al.; Pediatr Res (April 1985: issue 19,4). Pp. 334-337.
Neurologic Crises in Hereditary Tyrosinemia: G. Mitchell, et al.; N Eng J Med (February 15, 1990: issue 322, (7)). Pp. 432-437....
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Copyright (C) 1986 National Organization for Rare Disorders, Inc.
192: Urticaria Pigmentosa
_________________________
** IMPORTANT **
It is possible the main title of the article (Urticaria Pigmentosa) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Xanthelasmoidea
Infantile Mastocytosis
Perstans Hemorrhagica Urticaria
DISORDER SUBDIVISIONS
Papular Urticaria Pigmentosa
Nodular Urticaria Pigmentosa
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
The most common form of Urticaria Pigmentosa is the papular form which is characterized by itchiness, brown spots (macules), and smooth, slightly elevated areas of different color appearing on the skin. There is progression to pigmentation, followed by the formation of erythema (redness), and edema when the lesions are rubbed. In the nodular form of Urticaria Pigmentosa, scarring is especially prominent.
Symptoms
Characteristically, persons with Urticaria Pigmentosa have skin lesions which may be itchy due to an excess of mast cells in the skin. Malaise, anorexia (loss of appetite), abdominal pain, flatulence, diarrhea, and pain in the back, chest and joints also may be present.
Causes
The cause of Urticaria Pigmentosa is unknown. The disorder may be due to an allergic, pseudoleukemic, or metabolic disturbance. Most cells release histamine which causes many of the symptoms.
Affected Population
Onset of Urticaria Pigmentosa is generally in the first year of life. Lesions usually disappear by adolescence except when Systemic Mastocytosis is present (see section on related disorders).
Related Disorders
In Systemic Mastocytosis there are multiple confluent spots, papules and nodules in the skin, and pigmentation may be less. Extensive involvement of the mucous membranes of the mouth, nose and rectum, and enlargement of the spleen, liver and lymph nodes also may be present. Edema and shock-like episodes may also occur.
Therapies: Standard
Treatment of Urticaria Pigmentosa is symptomatic and supportive.
Therapies: Investigational
Urticaria Pigmentosa has been treated experimentally with oral disodium cromoglycate, the H-2 antihistamine cimetidine (sometimes combined with the H-1 antihistamine chlorpheniramine or the anticholinergic drug propantheline) and with ketotifen.
This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Urticaria Pigmentosa, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
References
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 310.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1948-51, 2334-5.
Urticaria Pigmentosa
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Copyright (C) 1986, 1987, 1989 National Organization for Rare Disorders, Inc.
249: Urticaria, Cholinergic
_________________________
** IMPORTANT **
It is possible that the main title of this article (Cholinergic Urticaria) is not the name you expected. Please check the SYNONYM listing for alternate names and disorder subdivisions covered by this article.
Synonyms
Information on the following disorders can be found in the Related Disorders section of this report.
Physical Urticaria
Papular Urticaria
Contact Dermatitis
Aquagenic Urticaria
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Cholinergic Urticaria is a skin disorder caused by sensitivity to heat, emotional stress, or exercise in susceptible individuals. It is characterized by red spots (erythema) resembling hives, itching (pruritus), and possibly abdominal cramps, diarrhea, faintness, weakness and sweating.
Symptoms
The main symptoms of Cholinergic Urticaria are bright red spots (macules) on the skin, itching (pruritus), and hives which are usually 2-5 cm in diameter. Round white ridges form in the center of the macules. These lesions grow together into large red areas. Swelling of eyelids, lips, hands and feet can occur. Abdominal cramps, diarrhea, faintness, weakness and sweating may also be present.
Causes
Cholinergic Urticaria may result from hypersensitivity to heat such as hot baths, warm rooms and exposure to the sun. Eating hot foods, physical exercise, excitement (any stimulation that causes sweating), and possibly hypersensitivity to acetylcholine, are other causes of Cholinergic Urticaria.
Related Disorders
Physical Urticaria is a condition in which red allergic hives with itching are produced by exposure to cold temperatures, water or mild trauma. (For more information on this disorder, choose "Physical Urticaria" as your search term in the Rare Disease Database.
Papular Urticaria, more commonly known as "hives", is characterized by local elevated ridges (wheals) and redness of the skin, with itching, usually triggered by insect bites, sensitivity to drugs or other environmental causes. (For more information on this disorder, choose "Papular Urticaria" as your search term in the Rare Disease Database.)
Contact Dermatitis is an acute or chronic inflammation of the skin, often sharply demarcated, produced by substances in contact with the skin to which a person is allergic. (For more information on this disorder, choose "Contact Dermatitis" as your search term in the Rare Disease Database.)
Aquagenic Urticaria is a condition in which red hives with itching are produced by contact with water.
Therapies: Standard
The use of drugs or cosmetics should be reviewed with the patient, particularly if sensitivity to sunlight (photosensitivity) is suspected. Protection from the cause of the Urticaria is necessary. When photosensitivity is present, avoidance of sunlight is important. The patient should wear protective clothing such as a hat and a long-sleeved shirt when outdoors on a sunny day. Sunscreen preparations may be helpful. For relief of itching, an antihistamine may be of benefit.
Hydroxyzine (Atarax) is the preferred drug for Cholinergic urticaria. Anticholinergic drugs are ineffective at tolerable doses.
Therapies: Investigational
This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Cholinergic Urticaria, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Allergy and Asthma Foundation of America
1835 K Street, N.W., Suite P-900
Washington, DC 20006
(202) 293-2950
Allergy Information Association
25 Poynter Dr., Suite 7
Weston, Ontario, MR9 1K8
Canada
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 495-5717
References
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1948-51, 2334-5.
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 311-2.
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565: Urticaria, Cold
_________________________
** IMPORTANT **
It is possible that the main title of the article (Cold Urticaria) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
DISORDER SUBDIVISIONS
Idiopathic Cold Urticaria (Familial or Acquired)
Primary Idiopathic Cold Urticaria
Information on the following diseases can be found in the Related Disorders section of this report:
Raynaud's Disease
Cold Agglutinin Disease
Paroxysmal Cold Hemoglobinuria
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Cold Urticaria is a chronic, reactive skin disorder. It is probably the most common form of physical urticaria. Major symptoms may include abnormal reddening of the skin (erythema), hives and itching after exposure of the skin to cold temperatures.
Symptoms
In Cold Urticaria the skin has an abnormal reaction to cold. The skin usually turns red, develops welts and itching. This may be accompanied by fever, headache, anxiety, tiredness, and sometimes even fainting. Some persons may also have palpitations or wheezing.
Idiopathic Cold Urticaria may be familial or acquired. Familial Cold Urticaria is a rare condition inherited as an autosomal dominant trait. It consists of burning red skin patches which develop approximately thirty minutes after being exposed to cold weather. This condition may persist for up to forty-eight hours after exposure. It may be accompanied by fever, headache, tiredness, pain in the joints (arthralgia) and the presence of excessive white blood cells (leucocytosis) in the blood.
Acquired Cold Urticaria consists of Primary Acquired Cold Urticaria, Delayed Cold Urticaria, Localized Cold Urticaria, Reflex Cold Urticaria or Secondary Cold Urticaria, which are explained below:
Primary Acquired Cold Urticaria can occur five to thirty minutes after exposure to cold. The reaction may occur in the cold itself, but more often during the rewarming phase. Itching and reddening of the skin may develop first, followed by a burning sensation. Hives appear, usually lasting thirty minutes. The affected person may also experience headache, palpitations, wheezing or fainting.
Delayed Cold Urticaria may appear several hours after contact with the cold.
Localized Cold Urticaria has been reported to occur after exposure to cold at the sites of previous ragweed injections for allergies or ladybug bites.
Reflex Cold Urticaria is characterized by widespread appearance of welts occuring in response to a drop in body temperature after localized exposure to cold applications (e.g. an ice pack).
Secondary Cold Urticaria can occur in connection with various blood disorders associated with viral infections such as Mononucleosis or Syphilis.
Causes
Cold Urticaria can occur for unknown (idiopathic) reasons, or it may be transmitted as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.)
It may also be a disease of the autoimmune system. (Autoimmune disorders are caused when the body's natural defenses (antibodies) against invading organisms suddenly begin to attack perfectly healthy tissue.)
Exposure of the skin to cold triggers symptoms of the disorder such as cold weather, swimming in cold water or even a cold bath.
Affected Population
Cold Urticaria affects males and females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Cold Urticaria. Comparisons may be useful for a differential diagnosis:
Raynaud's Disease is a vascular disorder that is triggered by exposure to cold. It is characterized by spasms of blood vessels occurring especially in the fingers and toes. Intermittent attacks of pain, pallor or blue coloring (cyanosis) of the fingers or toes are precipitated by exposure to cold or by emotional upsets. The attacks last for minutes to hours, but are rarely severe enough to result in tissue loss. Rewarming the affected digits results in normal blood circulation and a return to normal color and sensation. Onset usually occurs in the first or second decade of life. (For more information on this disorder, choose "Raynaud" as your search term in the Rare Disease Database).
Cold Agglutination Disease is a blood disorder which occurs when the temperature of the blood is below body temperature. It is most pronounced below 25 C. Although it is seen occasionally in the blood of apparently healthy persons, it is more frequent in individuals with scarlet fever, staphylococcal infections, primary atypical pneumonia, certain hemolytic anemias, and trypanosomiasis.
Paroxysmal Cold Hemoglobinuria is a disorder that makes the red blood corpuscles abnormally susceptible to antibodies which try to destroy them. It is triggered by exposure to cold. (For more information on thia disorder, chooose "Hemoglobinuria" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Cold Urticaria may include the use of the drugs epinephrine, diphenhydramine, cyproheptadine, hydrochloride and cetirizine. Symptoms may be prevented with the use of warm clothing during cold weather. The avoidance of cold baths, swimming in cold water, etc., is recommended since loss of consciousness may occur, possibly resulting in drowning.
Therapies: Investigational
This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Cold Urticaria, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Allergy & Infectious Diseases (NIAID)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
Asthma & Allergy Foundation of America
1717 Massachusetts Avenue NW, Suite 305
Washington, DC 20036
(202) 265-0265
For information about Raynaud's Disease only:
Raynaud's Association Trust
c/o Bladon Crescent
Alsager, Cheshire 5T7 2BG
England
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 945, 1058.
CLINICAL CHARACTERISTICS OF COLD-INDUCED SYSTEMIC REACTIONS IN THIS
COMPLICATION AND A PROPOSAL FOR A DIAGNOSTIC CLASSIFICATION OF COLD
URTICARIA. A.A. Wanderer, et al.; J Allergy Clin Immunol (September, 1986, issue 78 (3 Pt. 1)). Pp. 417-423.
COLD URTICARIA: RELEASE INTO THE CIRCULATION OF HISTAMINE AND EOSINOPHIL
CHEMOTACTIC FACTOR OF ANAPHYLAXIS DURING COLD CHALLENGE. N.A. Soter, et al.; N Engl J Med (March, 1975, issue 294 (13)). Pp. 687-690.
INHIBITING EFFECT OF CETIRIZINE ON HISTAMINE-INDUCED AND 48/80-INDUCED WHEALS AND FLARES, EXPERIMENTAL DERMOGRAPHISM, AND COLD-INDUCED URTICARIA.
L. Juhlin et al.; J Allergy Clin Immunol (October, 1987, issue 80, (4)). Pp. 599-602.
Urticaria, Cold
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248: Urticaria, Papular
_________________________
** IMPORTANT **
It is possible the main title of the article (Papular Urticaria) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Urticaria
Giant Urticaria
Hives
Lichen Urticatus
Angioneurotic Edema
Angioedema
Quincke Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Papular Urticaria, more commonly known as "hives", is characterized by local elevated ridges (wheals) and redness (erythema) of the skin. This condition is usually triggered by allergic reactions to insect bites, sensitivity to drugs, or other environmental causes.
Symptoms
The first symptom of Papular Urticaria is usually itching (pruritus). This is followed shortly by the appearance of elevated ridges (wheals) that may remain small or become large. The larger wheals tend to be clear in the center, and may be noticed first as large rings of erythema and edema. Ordinarily, crops of hives come and go. A lesion may remain for several hours, then disappear only to reappear elsewhere.
Angioedema is a more diffuse swelling of loose tissue under the skin usually affecting the back of hands or feet, lips, genitalia and mucous membranes. Swelling (edema) of the upper airway may produce respiratory distress, and the high-pitched tone of difficult breathing may be mistaken for asthma.
Causes
Acute Papular Urticaria and Angioedema are essentially exaggerated allergic reactions limited to the skin and tissues right under the skin (subcutaneous tissues). They may be caused by a drug allergy, insect stings or bites, desensitization injections (allergy shots) or ingestion of certain foods (particularly eggs, shellfish, nuts or fruits) by people who are allergic to these substances. In some cases (such as reactions to strawberries) the reaction may occur only after overindulgence, and possibly result from direct toxic histamine release into the blood. Papular Urticaria may accompany, or even be the first symptom of various virus infections including hepatitis, infectious mononucleosis, or German measles (rubella). Some acute reactions are unexplained, even when recurrent. If acute Angioedema is recurrent, progressive, and never associated with Urticaria, a hereditary enzyme deficiency should be suspected.
Affected Population
Children from 2 to 7 years are most commonly affected by Papular Urticaria, especially in the summertime when the insect population increases. It is more rare in adults, perhaps in part because adults learn to avoid substances and conditions to which they are allergic.
Related Disorders
Physical Urticaria is a condition in which red allergic skin lesions and itching are produced by exposure to cold temperatures, water or mild trauma.
Cholinergic Urticaria is a condition characterized by red spots on the skin, itching and possibly abdominal cramps, diarrhea, faintness, weakness and sweating. It is caused by sensitivity to heat, sunlight, exercise, etc. For more information on these disorders and other types of urticaria, choose "Urticaria" as your search term in the Rare Disease Database.)
Therapies: Standard
Acute Papular Urticaria is a self-limited condition that generally subsides in 1 to 7 days. Therefore, treatment is chiefly symptomatic. If the cause is not obvious, all nonessential medication should be stopped until the reaction has subsided. Symptoms such as itching and swelling can usually be relieved with an oral antihistamine. Corticosteroids (e.g. prednisone) may be necessary for the more severe reactions, particularly when associated with angioedema. Topical corticosteroids are of no value. Epinephrine should be the first treatment for acute pharyngeal or laryngeal angioedema. This may be supplemented with local (topical) treatment (e.g. nebulized epinephrine) and an intravenous antihistamine. This usually prevents airway obstruction, but making an opening in the trachea (tracheotomy) and oxygen may be necessary.
Although the specific cause of chronic Papular Urticaria can seldom be identified and removed, spontaneous remissions usually occur within 2 years in 50% of cases. Control of stressful life situations often helps. Certain drugs (e.g. aspirin) may aggravate symptoms, as can alcoholic beverages, coffee and tobacco. If so, they should be avoided. When Urticaria is produced by aspirin, sensitivity to related compounds, as well as certain food coloring additives, should be investigated.
Oral antihistamines are beneficial in most cases. All reasonable measures should be used before resorting to corticosteroids, which are frequently effective, but have significant side effects after chronic use. A few patients with intractable Urticaria are also found to have a hyperthyroid condition.
Therapies: Investigational
This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Papular Urticaria, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Allergy and Asthma Foundation of America
1835 K Street N.W., Suite P-900
Washington, D.C. 20006
(202) 293-2950
Allergy Information Association
25 Poynter Dr., Suite 7
Weston, Ontario, MR9 1K8
Canada
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
References
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 1948-51.
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 308.
Urticaria, Papular
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250: Urticaria, Physical
_________________________
** IMPORTANT **
It is possible the main title of the article (Physical Urticaria) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Cold Urticaria
Dermographism
Dermatographia
Autographism
Physical Allergy
Aquagenic Urticaria
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Physical urticaria is a condition in which red (erythematous) allergic skin lesions and itching (pruritus) are produced by exposure to cold temperatures, water, or mild trauma. The disorder occurs most commonly in infants.
Symptoms
The most common symptoms of Physical Urticaria are itching (pruritus) and hives consisting of red rings around white ridges (wheals). Sensitivity to cold is usually manifested by these eruptions on the skin, itching, and swelling under the skin (angioedema). These symptoms develop most typically after exposure to cold is terminated and during or after swimming or bathing. Contraction of the muscles around the bronchi (bronchospasm) and even histamine-mediated shock may occur in extreme cases. If this happens during swimming, drowning may present a danger.
Sensitivity to cold can be passively transferred with serum that contains a specific immunoglobulin (IgE) antibody, suggesting an allergic reaction involving a physically altered skin protein as the cause of the allergic reaction. The serum of a few patients with cold-induced symptoms of Physical Urticaria contains cryoglobulins or cryofibrinogen; these abnormal proteins can also be associated with a serious underlying disorder such as a malignancy, a collagen vascular disease, or chronic infection. Cold may aggravate asthma or vasomotor rhinitis, but Cold Urticaria is independent of any other known allergic tendencies.
Dermatographia, dermographism or autographism, can be demonstrated by scratching or firmly stroking the skin. Occasionally it is the first sign of an urticarial drug reaction. Physical Urticaria has also occurred following persistent vibration of the skin, and even after exposure to water (aquagenic urticaria).
Causes
The underlying cause of Physical Urticaria is unknown in most cases. It tends to occur in families, suggesting a possible genetic transmission.
Affected Population
Cold Urticaria occurs most often in infants, although it sometimes occurs in adults.
Related Disorders
Cholinergic Urticaria is a condition characterized by red spots on the skin, hives, itching and sometimes abdominal cramps, diarrhea, faintness, weakness and sweating. It is caused by sensitivity to heat, sunlight, exercise, etc.
Papular Urticaria, more commonly known as "hives", is characterized by local elevated ridges (wheals) and redness (erythema) of the skin, usually caused by allergic reactions to insect bites , sensitivity to drugs or other environmental causes.
Aquagenic Urticaria is an itching condition caused by exposure to water.
Contact Dermatitis is an acute or chronic inflammation of the skin, often sharply demarcated, produced by substances in contact with the skin to which a person is allergic.
For more information on these disorders, choose "Urticaria" and "Contact Dermatitis" as your search terms in the Rare Disease Database.)
Therapies: Standard
Protection from the physical cause of the allergy is necessary. Symptoms such as itching and swelling can usually be relieved with an oral antihistamine.
Aquagenic Urticaria can be effectively treated with injections of intramuscular Triamcinolone Acetonide, a systemic steroid, that eliminates itching for several months before treatment is again necessary.
Therapies: Investigational
Clinical trials are underway to study allergic reactions to Aspartame and to describe their reactions. Interested persons may wish to contact:
Dr. Andrew Saxon
UCLA School of Medicine
10833 LeConte Ave., Rm. 52-175
Los Angeles, CA 825-3718
(213) 825-3718
to see if further patients are needed for this research.
This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Physical Urticaria, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Allergy and Asthma Foundation of America
1835 K Street N.W., Suite P-900
Washington, D.C. 20006
(202) 293-2950
Allergy Information Association
25 Poynter Dr., Suite 7
Weston, Ontario MR9 1K8
Canada
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
References
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 311.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 1948-51, 2334-5.
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529: Usher's Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Usher Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article.
Synonyms
Hereditary Deafness-Retinitis Pigmentosa
Retinitis Pigmentosa and Congenital Deafness
DISORDER SUBDIVISIONS:
Type I Usher
Type II Usher
Type III Usher
Type IV Usher
Information on the following diseases can be found in the Related Disorders section of this report:
Retinitis Pigmentosa
Hallgren Syndrome
Alstrom Syndrome
Rubella
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Usher's Syndrome is a genetic disorder primarily characterized by deafness accompanied by Retinitis Pigmentosa, a disorder that causes progressive loss of vision. The age at which the disorder appears as well as severity of symptoms distinguishes the four types of Usher's Syndrome.
Symptoms
Usher's Syndrome is characterized by nerve deafness (sensorineural hearing loss) as well as Retinitis Pigmentosa, a disorder that causes degeneration of the retina leading to progressive loss of vision. The nerve deafness may be complete or mild, and usually does not progress. The Retinitis Pigmentosa can begin during childhood or later in life. Studies show that clear central vision may be maintained for many years even while side (peripheral) vision decreases. In some cases, these symptoms may be accompanied by mental deficiencies, psychosis, disturbances in walking related to inner ear problems, or cataracts.
Type I Usher's Syndrome is characterized by complete hearing loss at birth, vision problems beginning at approximately the age of ten, development of night blindness at approximately twenty years of age, and progressive loss of peripheral vision.
Type II Usher's Syndrome is identified by moderate to complete hearing loss at birth, and the onset of Retinitis Pigmentosa during the late teens or early twenties. Night blindness usually begins during the late twenties or thirties.
Type III Usher's Syndrome usually begins at puberty with progressive hearing loss. Retinitis Pigmentosa begins much later in life.
Type IV Usher's Syndrome predominately affects males and is also characterized by hearing loss and progressive vision disturbances. This is an extremely rare form of Usher's Syndrome and is thought to be inherited as an X-Linked trait.
Causes
Usher's Syndrome is inherited as an autosomal recessive trait in types I, II and III. Type IV Usher's Syndrome is thought to be inherited as an X-Linked recessive trait.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.
In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.
X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.
The exact reason for the hearing and vision loss in Usher's Syndrome is not well understood. Persons with Usher Syndrome may have a hypersensitivity to compounds which could damage chromosomal components known as DNA. This suggests a defective DNA repair mechanism. Immune system disturbances are also thought to be associated with Usher Syndrome, although the exact process is not well understood.
In 1989 researchers discovered the chromosome marker for Type II Usher Syndrome. This is expected to lead to the isolation of the genes that cause this disorder, identification of gene carriers, and perhaps, prenatal tests.
Affected Population
Usher's Syndrome affects approximately five to ten in 100,000 people worldwide. Higher than normal numbers of people with Usher's Syndrome have been found among Jewish people in Berlin, Germany; French Canadians of Louisiana; Argentineans of Spanish descent; and Nigerian Africans.
Related Disorders
Symptoms of the following disorders can be similar to those of Usher Syndrome. Comparisons may be useful for a differential diagnosis:
Hallgren Syndrome is also known as Graefe-Sjogren Syndrome. Deafness at birth is accompanied by progressive vision impairment including nystagmus and cataracts. Additional symptoms are psychomotor retardation, vestibulocerebellar ataxia, mental deficiency and psychosis.
Alstrom Syndrome is an inherited disorder characterized by retinal degeneration with nystagmus and loss of central vision. This disorder is associated with obesity in childhood. Nerve deafness and Diabetes Mellitus tend to develop after the age of ten years.
Rubella is more commonly known as German measles. This acute viral disorder is of concern when contracted during the first three months of pregnancy because it can cause fetal abnormalities. These abnormalities may include hearing loss and/or vision disturbances as well as developmental malformations. (For more information on this disorder, choose "Measles" as your search term in the Rare Disease Database).
The following disorder is associated with Usher's Syndrome as a symptom complex. It is not necessary for a differential diagnosis because it may start years after onset of nerve deafness.
Retinitis Pigmentosa (RP) is one of a group of inherited eye diseases causing degeneration of the retina. When the retina degenerates, as in RP, the vision decreases and may occasionally be lost. Retinitis Pigmentosa may be associated with other symptoms such as central nervous system disorders, metabolic disorders and even chromosomal abnormalities such as Turner's Syndrome. (For more information on these disorders, choose "RP" and "Turner" as your search terms in the Rare Disease Database.)
Therapies: Standard
Treatment of Usher's Syndrome is symptomatic and supportive. Agencies which provide services to individuals with hearing and vision loss can be helpful. Surgery to remove cataracts in conjunction with intraocular lens implantation may improve vision problems in some cases. Genetic counseling is recommended for patients and their families.
It is important to identify as early as possible whether a deaf child may have Usher's Syndrome. If vision loss occurs later in life, teaching a child sign language may have little value as a communication aid during adulthood. Therefore, educational methods and options should be chosen carefully during school years.
Therapies: Investigational
Scientists are currently studying Usher's Syndrome to identify the location of the defective gene and a chromosomal marker. Once this gene is identified, researchers may then be able to develop effective treatment.
This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Usher's Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
RP Foundation Fighting Blindness
1401 Mt. Royal Avenue
Baltimore, MD 21217
(800) 638-2300
(301) 225-9400
Alexander Graham Bell Association for the Deaf
3417 Volta, NW
Washington, DC 20007
(202) 337-5220
For Trained Hearing Dogs:
American Humane Association
P.O. Box 1266
Denver, CO 80201
Deafness Research Foundation
55 East 34th Street
New York, NY 10016
(212) 684-6556
National Information Center on Deafness
Gallaudet College
Kendall Green
Washington, DC 20002
voice & tdd phone (202) 651-5109
American Society for Deaf Children
814 Thayer Avenue
Silver Spring, MD 20910
(301) 585-5400 Voice/TTY
NIH/National Eye Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5248
NIH/National Institute of Deafness & Other Communication Disorders
(NIDCD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
National Federation of the Blind
1800 Johnson Street
Baltimore, MD 21230
(301) 659-9314
1-800-638-7518
American Council of the Blind, Inc. (ACB)
1155 - 15th St., NW, Suite 720
Washington, D.C. 20005
(202) 467-5081
(800) 424-8666
American Foundation for the Blind (AFB)
15 W. 16th St.
New York, NY 10011
(212) 620-2000
Regional offices:
Atlanta, GA (404) 525-2303
Chicago, IL (312) 245-9961
Dallas, TX (214) 352-7222
San Francisco, CA (415) 392-4845
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
This Rare Disease Database entry is based upon outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics, and the following articles:
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1293, 1450.
FIGHTING BLINDNESS NEWS, RP Foundation Fighting Blindness; Winter 1987-1988 Newsletter. Pp. 2-4.
RADIATION SENSITIVITY OF FIBROBLAST STRAINS FROM PATIENTS WITH USHER'S
SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, AND HUNTINGTON'S DISEASE: J. Nove, et al.; Mutat Res (July 1987, issue 184(1) ). Pp. 29-38.
USHER'S SYNDROME. OPHTHALMIC AND NEURO-OTOLOGIC FINDINGS SUGGESTING
GENETIC HETEROGENEITY: G.A. Fishman, et al.; Arch Ophthalmol (September 1983, issue 101(9) ). Pp. 1367-74.
CATARACT EXTRACTION AND INTRAOCULAR LENS IMPLANTATION IN PATIENTS WITH
RETINITIS PIGMENTOSA OR USHER'S SYNDROME: D.A. Newsome, et al.; Arch Ophthalmol (June 1986, issue 104(6)). Pp. 852-854.
Usher's Syndrome
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486: VACTERL Association
_________________________
** IMPORTANT **
It is possible the main title of the article (VACTERL Association) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
VACTERL Syndrome
VACTERL Association
VACTERL is the acronym for: (V)ertebral anomalies, (A)nal atresia, congenital (C)ardiac disease, (T)racheo(E)sophageal fistula, (R)enal anomalies, radial dysplasia, and other (L)imb defects
DISORDER SUBDIVISIONS
VATER Association : (V)ertebral defects, (A)nal atresia, (T)racheoesophageal fistula with (E)sophageal atresia, and (R)adial dysplasia.
Information on the following diseases can be found in the Related Disorders section of this report:
REAR Syndrome
Townes-Brocks Syndrome
Holt-Oram Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
VACTERL Association is an acronym for (V)ertebral anomalies, (A)nal atresia, congenital (C)ardiac disease, (T)racheo(E)sophageal fistula, (R)enal anomalies, radial dysplasia, and other (L)imb defects. Abnormalities are present at birth. Symptoms occur in various combinations and can be manifestations of several recognized disorders. Related disorders such as the VATER Association and the REAR Syndrome, which are composed of some of the same symptoms, have been expanded into the VACTERL Association. Nearly all cases have occurred sporadically, although some familial cases have been identified. Occasionally, other abnormalities may accompany this association of symptoms.
Symptoms
Vertebral anomalies of the VACTERL Association can include divided spinal disks, incomplete or half-developed spinal disks, and developmental abnormalities of the tailbone (sacrum) which is the lowest section of the vertebral column comprising part of the pelvis.
The absence of a normal opening (atresia) in the anus can also occur. Abnormal passages from hollow organs to the body surface or to another organ (fistulas) can develop between the lower section of the rectum and the urethra (in males), or the vagina (in females). Fistulas may occasionally be found in conjunction with congenital absence of the anus, usually in the upper section of the rectum.
The most common heart (cardiac) abnormality is Ventricular Septal Defect, which is a congenital defect in the wall (septum) between the two ventricles of the heart, usually resulting from failure of the spiral septum to close the interventricular aperture (foramen) normally. (For more information on this disorder, please choose "Ventricular Septal Defect" as your search term in the Rare Disease Database.)
Abnormal passages or openings (fistulas) can also occur between the windpipe (trachea) and/or upper digestive tract (tracheo-esophageal fistula). Occasionally, the esophagus may be absent at birth.
The most common kidney abnormality is the inborn absence (agenesis) of the kidneys. In other cases, the kidney tissue may be over-developed.
Radial limb dysplasia includes any defect involving the radial side of the arm such as underdevelopment of the thumb, the presence of three bones (triphalangeal) in the thumb instead of the normal two, the presence of extra fingers on one hand (polydactyly), and/or absence of some of the fingers.
Some persons with VACTERL Association may not grow at a normal rate, but mental development is usually normal.
Causes
VACTERL Association is a combination of developmental abnormalities which are thought to occur sporadically. However, some scientists believe some cases to be genetic. Abnormalities are presumed to be defects in the middle (mesodermal) of three primary layers of the embryo during fetal development due to a variety of causes.
Affected Population
VACTERL Association is a very rare combination of developmental abnormalities which affects males in slightly greater numbers than females.
Related Disorders
Symptoms of the following disorders can be similar to those of VACTERL Association. Comparisons may be useful for a differential diagnosis:
REAR Syndrome is an acronym for (R)enal anomalies, deformed external (E)ars and perceptive deafness, (A)nal stenosis, and (R)adial dysplasia. Underdeveloped kidneys are the most common renal abnormalities. The external ears are abnormally developed and deafness is present at birth. The anus is constricted or smaller than normal and other anal abnormalities can also occur. Abnormal tissue development is present in the area of the bone in the forearm (radius) or upper arm.
Townes-Brocks Syndrome is characterized by the congenital lack of an anal opening in association with hand, foot and ear abnormalities. An extra joint in the thumb (triphalangeal thumb) and/or an extra thumb can be present. In the feet, fusion of the long bones (metatarsals) may occur, or some bones may be absent. External ears can be abnormally large or "lopping" and mild sensorineural deafness can occur.
Holt-Oram Syndrome, also known as Atriodigital Dysplasia or Heart-Hand Syndrome, is a genetic disorder comprised of atrial septal defect in association with hand and forearm deformities.
Therapies: Standard
Treatment of VACTERL Association by successive surgical rehabilitation of malformations is often useful. Other treatment is symptomatic and supportive.
Therapies: Investigational
The Titanium Rib Project is underway to implant expandable ribs in patients with disorders involving missing, underdeveloped or otherwise malformed rib cages, ribs or chest walls. Absent areas due to surgery or birth defects, fused ribs or hypoplastic chests may be improved using the titanium ribs which can be expanded as the child grows. Interested persons may contact:
Dr. Robert Campbell
Santa Rosa Children's Hospital
519 W. Houston St.
San Antonio, TX 78207-3198
(512) 567-5125
This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on VACTERL Association, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Center for Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For genetic information and genetic counseling referrals, contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 67, 752.
A POPULATION STUDY OF THE VACTERL ASSOCIATION: EVIDENCE FOR ITS
ETIOLOGIC HETEROGENEITY: M.J. Khoury, et al.; Pediatrics (May 1983, issue 71(5)). Pp. 815-820.
TRACHEAL AGENESIS AND ASSOCIATED MALFORMATIONS: A COMPARISON WITH
TRACHEOESOPHAGEAL FISTULA AND THE VACTERL ASSOCIATION: J.A. Evans, et al.; Am J Med Genet (May 1985, issue 21(1)). Pp. 21-38.
TOWNES SYNDROME. A DISTINCT MULTIPLE MALFORMATION SYNDROME RESEMBLING
VACTERL ASSOCIATION: J.H. Hersh, et al.; Clin Pediatr (Phila) (February 1986, issue 25(2)). Pp. 100-102.
VACTERL Association
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627: Valinemia
_________________________
** IMPORTANT **
It is possible that the main title of this article (Valinemia) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Hypervalinemia
Valine Transaminase Deficiency
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report.
Valinemia is a very rare metabolic disorder. It is characterized by elevated levels of the amino acid valine in the blood and urine caused by a deficiency of the enzyme valine transaminase. This enzyme is needed in the breakdown (metabolism) of valine. Infants with valinemia usually have a lack of appetite, vomit frequently, and fail to thrive. Low muscle tone (hypotonia) and hyperactivity also occur.
Symptoms
Valinemia is usually present at birth. Symptoms include lack of appetite, frequent vomiting, and failure to thrive. The levels of the amino acid valine in the blood and urine are elevated. Abnormally low muscle tone, excessive drowsiness, and/or hyperactivity can also occur. A diet low in valine introduced during early infancy usually improves symptoms of valinemia, and lowers the valine concentrations in the blood to normal levels.
Causes
Valinemia is thought to be a genetic disorder inherited through recessive genes. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, he or she will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.)
Affected Population
Valinemia is a very rare disorder, occurring in less than 200 persons in the United States. It is present in affected infants at birth.
Therapies: Standard
Valinemia is treated by following a diet low in the amino acid valine with appropriate monitoring to avoid symptoms of valine deficiency.
Therapies: Investigational
This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Valinemia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Digestive Diseases Information Clearinghouse
Box NDIC
Bethesda, MD 20892
(301) 468-2162
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Rd.
Crewe CW1 1XN, England
Telephone: (0270) 250244
For information on genetics and genetic counseling, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
A SIBSHIP WITH HYPERVALINEMIA: O.S. Reddi, et al.; Human Genet (2 November 1977: issue 39(1)). Pp. 139-142.
THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds; McGraw Hill, 1983. Pp. 450-451.
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 1294....
Valinemia
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686: Varicella Zoster Virus
_________________________
** IMPORTANT **
It is possible that the main title of the article (Varicella Zoster Virus) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Chickenpox
Shingles-herpes Zoster
Information on the following diseases can be found in the Related Disorders section of this report:
Herpes Simplex (Cold Sores, Fever Blisters and Genital Herpes)
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
The varicella-zoster virus is a common herpes virus that causes chickenpox during childhood, and shingles (herpes zoster) during adulthood.
Symptoms
The varicella-zoster virus causes chickenpox in children. After exposure to, the virus, the incubation period is between 11 to 21 days. The severity of the chickenpox ranges from a slight rash to many hundreds of blisters and a fever as high as 105 degrees F. Chickenpox symptoms begin with a slight fever, sore throat, runny nose and a general feeling of discomfort. This precedes the rash by a few days.
The rash first appears on the back and chest, quickly covering the body. Spots may also appear in the mucous membranes such as those of the mouth, vagina or in the ears. The rash develops quickly into clear, oval blisters of various sizes. These soon become cloudy in color and within three to four days turn to scabs. It may take another week for the scabs to fall off.
After the rash first appears, it will continue to erupt for three to four days, and is often very itchy. During this time, and until all the lesions are scabbed over a child with chickenpox is still contagious, and should be kept isolated.
Chickenpox dan be life-threatening to children with a compromised immune system such as cancer patients undergoing chemotherapy, or asthmatics taking steroid drugs for prolonged periods.
Shingles (herpes zoster) occurs when the varicella-zoster virus is re-activated for unknown reasons. It is a non-seasonal infection occuring most often in older people and in those whose immune system is suppressed. Non immune individuals, especially children, may develop chickenpox after contact with a person who has active herpes-zoster virus. Shingles first appears as a rash, similar to chickenpox, but finer in appearance. The rash usually occurs on one side of the body or face, in an area involving one particular spinal nerve. The nerve pain (neuralgia), can persist for several months or even years. (For more information on this disorder, choose "Shingles" as your search term in the Rare Disease Database.)
Causes
The varicella-zoster virus is a member of the herpes virus family. It is transmitted in the form of airborne droplets.
Affected Population
Chickenpox affects males and females in equal numbers. It is most common in between the ages of 5 and 9. Shingles usually occurs in adults over the age of 50. These disorders are very prevalent in the United States and throughout the world.
Related Disorders
Symptoms of the following disorders can be similar to those of Varicella Zoster Virus. Comparisons may be useful for a differential diagnosis:
Cold Sore and Fever Blisters are a common, recurrent infection by the herpes simplex virus. There are two types of Herpes Simplex. Type 1 causes infections around the lips and in the cornea. It is characterized by the appearance on the skin or mucous membranes of clusters of small blisters, filled with clear fluid on slightly red bases. Type 2 usually affects the genital area and is transmitted primarily by direct contact with lesions, most often during sexual intercourse. (For more information on this disorder, choose "Herpes Simplex" as your search term in the Rare Disease Database.)
Therapies: Standard
There is no specific treatment for Chickenpox. However, Calamine lotion has a soothing and drying effect on the rash and an antihistamine drug may be prescribed to reduce the itchiness. It is most important to keep the patient from scratching the blisters and scabs, because scarring and further infection can result. Acetaminophen, given every 4 hours will help reduce the fever and headache. Aspirin should NOT be given to children with Chickenpox because it can cause Reye's Syndrome. (For more information concerning this disorder, choose "Reye" as your search term in the Rare Disease Database.)
There is no specific treatment for Shingles. Anesthetic medications for the rash, and aspirin or other analgesics for the nerve pain may be prescribed. Corticosteroids (if given early), may relieve pain in severe cases. Locally applied wet compresses may be soothing.
For immunosuppressed patients, antiviral drugs, such as acyclovir and vidarabine have been used, with acyclovir found to be the most effective. Until a vaccine for chicken pox becomes commercially available, children with a compromised immune system should guard against exposure to the Varicella Zoster Virus.
Therapies: Investigational
Clinical trials are being conducted on the experimental drug Arabinosyl adenine (ARA-A) for treatment of Herpes Zoster (Shingles). A Chicken Pox vaccine is being tested by Merck, Sharp & Dohme. (For more information on this disorder, choose "Shingles" in the Rare Disease Database.
Scientists are studying the effectiveness of the antiviral drug, acyclovir, in the treatment of children with Chicken Pox. The drug seems to speed up the recovery time of patients with the disease.
This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Varicella Zoster Virus, please contact
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 303332
(404) 639-3534
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301)496-5717
References
INTERNAL MEDICINE, 2nd Ed.: Section 7; Merle A Sande, M.D.; Little, Brown and Co., 1987. Pp. 1605.
THE COLUMBIA UNIVERSITY COLLEGE OF PHYSICIANS AND SURGEONS COMPLETE HOME
MEDICAL GUIDE, Stephen Atwood, M.D.; Crown Publishers Inc., 1985. Pp. 222.
THE WORLD BOOK MEDICAL ENCYCLOPEDIA, Your Guide To Good Health; Stuart Levin, M.D., World Book Inc., 1988. Pp. 172.
HISTORY, TREATMENT, AND PREVENTION. SE Strauss, et al.; ANN INTERN MED (February, 1988 (August 29, 1988, issue 198(2)). Pp. 221-237.
CURRENT THERAPY OF VARICELLA-ZOSTER VIRUS INFECTION IN IMMUNOCOMPROMISED
PATIENTS. A COMPARISON OF ACYCLOVIR AND VIDARBINE. DH Shepp et al.; AM J MED 1988 (August 29, 1988; issue 85(2A)). Pp.96-98
IMMUNIZATION OF HEALTHY ADULTS WITH LIVE ATTENUATED VARICELLA VACCINE.
AA Gershon et al.; J INFECT DIS (July 1988; issue 158(1)). Pp. 132-13.
LIVE ATTENUATED VARICELLA VACCINE IN HEALTHY 12-to-24 MONTH OLD CHILDREN. CE Johnson et al.; PEDIATRICS (April 1988; issue 81(4)). Pp. 512-518.
Varicella Zoster Virus
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$Copyright (C) 1989 National Organization for Rare Disorders, Inc.
642: Vascular Malformations of the Brain
_________________________
** IMPORTANT **
It is possible that the main title of the article (Vascular Malformations of the Brain) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Intracranial Vascular Malformations
Occult Intracranial Vascular Malformations
Cerebral Malformations
Disorder Subdivisions:
Arteriovenous Malformations
Cavernous Malformations
Venous Malformations
Telangiectasias
Information on the following diseases can be found in the Related Disorders section of this report:
Moyamoya Disease
Cerebrovascular Accident (Stroke)
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Vascular Malformations of the Brain are conditions that affect the blood vessels in the brain. They may be classified into four groups: Arteriovenous Malformations (abnormal arteries and veins), Cavernous Malformations (enlarged blood-filled spaces), Venous Malformations (abnormal veins), and the Telangiectasias (enlarged capillary-sized vessels). Symptoms and progression of these disorders vary with the type and severity of the malformations.
Symptoms
Vascular Malformations of the Brain may cause headaches, seizures, strokes, or bleeding in the brain (cerebral hemorrhage). Some researchers believe that the type of malformation determines the symptoms and progression of the disease. Other researchers believe that only the severity rather than the type of malformation is important.
Arteriovenous Malformations or AVM's affect arteries, veins, and middle-sized vessels but not capillaries. These blood vessels are enlarged and twisted. Arteries and veins may be connected directly instead of being connected through fine capillaries. (For more information on this disorder choose "Arteriovenous" for your search term in the Rare Disease Database.)
Cavernous Malformations consist of abnormally enlarged collections of blood-filled spaces. Cavernous Malformations may also be called Cavernous Angiomas or Cavernous Hemangiomas.
Venous Malformations involve only the veins; they vary in size but do not involve the arteries. The veins may be enlarged and twisted. These abnormal veins may compensate for a lack of normal veins in another area of the brain.
Telangiectasias result from enlarged openings (dilation) of capillary-sized vessels. Telangiectasias may occur on the face, eyes, membranes that cover the brain and spinal cord (meninges), and mucous membranes (the thin moist layer lining the body's internal surfaces).
Causes
The cause of Vascular Malformations of the Brain may be either congenital or acquired. It may be inherited as an autosomal dominant trait with variable expression and incomplete penetrance.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Incomplete penetrance means that all characteristics of a particular trait may not be manifested in all those who inherit the gene.
Malformations may also be the result of an injury or trauma. Symptoms may appear because the injured blood vessels may have very small malformations or lesions, a blood clot (thrombosis) may slow the blood flow, or slight bleeding may effect nearby tissues in the brain.
Affected Population
Vascular Malformations of the Brain affect males and females in equal numbers. A hereditary form of Cavernous Malformations tends to occur more frequently in Mexican-Americans. Arteriovenous Malformations occur more frequently in males.
Related Disorders
Symptoms of the following disorders can be similar to those of Vascular Malformations of the Brain. Comparisons may be useful for a differential diagnosis:
Cerebrovascular Accidents (Strokes) occur because the blood supply to the brain has been cut off or decreased.
Thrombotic strokes occur when a clot has narrowed or completely closed an artery in the neck or head. This is usually the result of the buildup of fat-containing materials and calcium (plaque) on the inner linings of the blood vessels (atherosclerosis or hardening of the arteries).
Embolic strokes occur when a clot breaks away from a diseased artery in another part of the body or the heart and clogs a smaller artery in the brain.
Hemorrhagic strokes occur when a blood vessel ruptures in or around the brain, depriving that area of circulating blood.
Each type of stroke has its own symptoms, progression, and prognosis. Clumsiness, headaches, speech difficulties, weakness or paralysis of one or both sides of the body may occur. Stiff neck, nausea, vomiting, and loss of consciousness are also common symptoms.
Moyamoya Disease is a progressive disease that effects blood vessels in the brain (cerebrovascular). It is characterized by narrowing and/or closing of the main artery to the brain (carotid) which decreases the blood supply. This lack of blood may cause semi- or complete paralysis of the feet, legs or the upper extremities. Cerebral bleeding, convulsions, headaches, various vision problems, mental deficiencies, and psychiatric problems may also occur. (For more information on this disorder, choose "Moyamoya" as your search term in the Rare Disease Database.
Therapies: Standard
Imaging machines such as Digital Intravenous Computerized or Common Angiography, Magnetic Resonance Imaging (MRI), Computed Tomography (CT) Scans, and Venograms can take pictures of the brain's blood vessels to see if Vascular Malformations are present.
Current treatment options vary according to the severity and location of the malformation. Surgical Removal (Resection), Multiple Embolization (an operation in which pellets are put into the circulatory system in order to block the abnormal blood vessels), and Irradiation are the treatments currently in use. In some cases treatment may not be necessary.
Genetic counseling may be of benefit for patients and their families if they have a hereditary form of this disorder. Other treatment is symptomatic and supportive.
Therapies: Investigational
Researchers are investigating several types of surgery that may be effective in treating Vascular Malformations of the Brain. Charged-Particle Radiosurgery, Interventriculostomy, and Catheter Placement are being studied. Charged-Particle Radiosurgery involves a needlelike surgical instrument which uses charged particles to cut tissue, to sterilize the edges of the wound, and to seal cut blood vessels. Interventriculostomy involves creating an opening in the brain to drain fluid. Catheters may be placed in the brain to drain any excess fluid and to collapse the malformed vessels.
This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Vascular Malformations of the Brain, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10505
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
VASCULAR MALFORMATIONS OF THE BRAIN: B.M. Stein & J.P Mohr; N Engl J Med (August 11, 1988: issue 319(6)). Pp. 368-370.
CEREBRAL CAVERNOUS MALFORMATIONS: INCIDENCE AND FAMILIAL OCCURRENCE: D.
Rigamonti et al.; N Engl J Med (August 11, 1988: issue 319(6)). Pp. 343-347.
CLINICAL, RADIOLOGICAL, AND PATHOLOGICAL SPECTRUM OF ANGIOGRAPHICALLY
OCCULT INTRACRANIAL VASCULAR MALFORMATIONS. ANALYSIS OF 21 CASES AND REVIEW OF THE LITERATURE: R.D. Lobato et al.; J Neurosurg (April, 1988: issue 68(4)). Pp. 518-531.
Vascular Malformations of the Brain
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5Copyright (C) 1989, 1992 National Organization for Rare Disorders, Inc.
705: Vasculitis
_________________________
** IMPORTANT **
It is possible that the main title of the article (Vasculitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Angiitis
Information on the following diseases can be found in the Related Disorders section of this report:
Group of Systemic Polyarteritis Nodosa Necrotizing Vasculitis
Hypersensitivity Vasculitis
Wegener's Granulomatosis
Lymphomatoid Granulomatosis
Giant-Cell Arteritis
Thromboangiitis Obliterans (Buerger's Disease)
Mucocutaneous Lymph Node Syndrome
Miscellaneous Vasculitides
Systemic Lupus Erythromatosus
Churg-Strauss Syndrome
Purpura, Schoenlein-Henoch
Behcet's Syndrome
Goodpasture Syndrome
Kawasaki Disease
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Vasculitis is an inflammation of the blood vessel system which includes the veins, arteries and capillaries. It may occur alone or in conjunction with allergic and rheumatic diseases.
Symptoms
Vasculitis is a common disorder characterized by an inflammation of the blood vessel walls. This inflammation causes a narrowing of the inside of the vessel and can obstruct the flow of blood to the tissues (ischemia). The lack of blood may cause damage to the tissues (necrosis), possible formation of blood clots (thrombosis), a weakening or ballooning which can possibly cause a rupture of the vessel wall (aneurysm).
Arteries and veins of all sizes and in all parts of the body may be affected. Vasculitis may be localized or affect multiple areas of the body with inflammatory and destructive lesions. It may occur alone or as a complication of many other disorders.
The symptoms of Vasculitis are many because of the wide variety of body systems it can affect. Depending on the system involved there may be muscle pain, joint pain, fever, weight loss, loss of appetite (anorexia), headache, or generalized weakness. There may also be ulcers of the mouth, hoarseness, night sweats, high blood pressure (hypertension), abdominal pain, diarrhea, blood in the urine (hematuria), or kidney (renal) failure. Eye inflammation and blurred vision are also symptomatic, and in very severe cases blindness can occur. When the respiratory system is involved there may be an inflammation of the sinuses, runny nose, asthma, a cough with or without bleeding (hemoptysis), shortness of breath (dyspnea), nosebleeds (epistaxis), or an inflammation of the membranes of the lungs.
When Vasculitis affects the skin there may be lesions that are flat and red (macules), nodules, and hemorrhages under the skin (purpura). These lesions may occur on any area of the body but are seen more frequently on the back, hands, buttocks, the inside area of the forearms and the lower extremities. These skin symptoms may occur only once or at regular intervals. They will usually last for several weeks and may leave darkened spots or scarring. In some cases of Vasculitis there may be wheel-like lesions that cause intense itching (urticaria), or ring-shaped lesions and ulcers. Blister-like lesions (vesicles, bullae) may develop in severe cases.
Because of the wide range of symptoms and body systems involved, an extensive history and physical exam is needed before a clear diagnosis of the type of Vasculitis can be made. In some cases, an x-ray of the blood vessels using dye (angiogram), or a biopsy of the affected organ may be recommended to give an accurate diagnosis and to insure proper treatment.
Causes
Since there are many forms of Vasculitis, there are many causes. Some types may be caused by allergic reactions or hypersensitivity to certain medications such as sulfa or penicillin, other drugs, toxins, and other inhaled environmental irritants. Other forms may occur because of a fungal infection, parasites or viral infections, while in some cases there may be no apparent cause. In some instances vasculitis may be an autoimmune disorder. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.) against invading organisms suddenly begin to attack healthy tissue.
Affected Population
Vasculitis usually affects males and females in equal numbers. It is most commonly seen in the elderly.
Related Disorders
The following are diseases that can be associated with Vasculitis:
Polyarteritis Nodosa is a group of systemic necrotizing vasculitis including the original classic polyarteritis nodosa, allergic granulomatosis, and those disorders that have the characteristics of both (an overlap syndrome). For more information on this disorder, choose "Polyarteritis" as your search term in the Rare Disease Database.)
Hypersensitivity Vasculitis includes a wide group of vasculitic syndromes that affect the upper and lower respiratory tract and kidneys. They are usually caused by an allergic reaction to an unknown antigen.
Giant Cell Arteritis includes several forms of Vasculitis that characteristically involves one or more branches of the carotid artery, in particular the temporal artery. There may be involvement of other blood vessels. (For more information on these disorders, choose "Arteritis "or "Takayasu" as your search terms in the Rare Disease Database.)
Wegener's Granulomatosis is a rare collagen vascular disorder that begins as a localized inflammation of the upper and lower respiratory tract mucosa, and usually progresses into generalized inflammation of the blood vessels (vasculitis) and kidneys (glomulonephritis). (For more information on this disorder choose "Wegener" as your search term in the Rare Disease Database.)
Lymphomatoid Granulomatosis is a more severe form of Vasculitis that infiltrates various tissues of the body, especially the lungs. It can be benign or malignant.
Thromboangiitis Obliterans (Buerger's Disease) is a rare inflammatory disorder that usually affects the medium and small arteries of the upper lower extremities. It is more common in males and is closely related to smoking.
Mucocutaneous Lymph Node Syndrome is an acute, non progressive, inflammatory illness that is unresponsive to antibiotics and affects infants and children. It is characterized by fever, enlarged lymph nodes in the neck (cervical adenitis), swelling of the skin (edema), flushing of the oral cavity, lips and palms of the hands, and shedding of the skin on the fingertips. In more severe cases there may be an inflammation of the arteries of the heart (coronary arteritis).
Miscellaneous Vasculitides is a group of syndromes in which vasculitis is either the primary disorder or a symptom of another disease.
Churg-Strauss Syndrome is a lung disorder often occuring as a complication of other disorders. Allergic blood vessel inflammation (angiitis or vasculitis) is accompanied by many inflammatory nodular lesions (granulomatosis) which may be small or granular, and are made up of compactly grouped cells. The age of onset varies from 15 to 70 years of age. (For more information on this disorder, choose "Churg-Strauss" as your search term in the Rare Disease Database).
Systemic Lupus Erythematosus is an inflammatory connective tissue disease that can affect many parts of the body including the joints, skin and internal organs. Lupus is a disease of the body's immune system, most often striking young women between the ages 15 and 35 years. Vasculitis can be a symptom of Lupus. (For more information on this disorder, choose "Lupus" as your search term in the Rare Disease Database).
Schoenlein-Henoch Purpura is one of a group of disorders characterized by purplish or brownish red discolorations of the skin. These spots may be large or small. Internal bleeding may occur in various areas of the body. This blood vessel disorder may affect the skin, joints, gastrointestinal system, kidneys, and in a very few cases the central nervous system. Little is known about the cause of this form of purpura although it may be an allergic reaction which more often occurs in children than in adults. (For more information on this disorder, choose "Schoenlein-Henoch" as your search term in the Rare Disease Database).
Behcet's Syndrome is a relapsing multi-system inflammatory disease. The most common symptoms include oral and genital ulcers and inflammation of the eyes. The joints, blood vessels, central nervous system, and gastrointestinal tract may also be involved. Attacks may last a week to a month and recur spontaneously. (For more information on this disorder, choose "Behcet" as your search term in the Rare Disease Database).
Goodpasture Syndrome is a rare inflammatory disorder involving the membranes of the lungs and kidneys. This disorder can be classified into three groups: autoimmune or antibody induced disease; systemic vasculitis (a vessel disease that may affect the body as a whole); and idiopathic (cause unknown). (For more information on this disorder, choose "Goodpasture" as your search term in the Rare Disease Database).
Kawasaki disease is characterized by diseased lymph nodes in the neck, high fever, and a rash primarily over the trunk. This syndrome predominantly affects people of Japanese ancestry. Multiple sites of inflammatory and destructive lesions in the arteries (polyarteritis) occur, and may involve the coronary vessels in twenty percent of those affected. (For more information on this disorder, choose "Kawasaki" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Vasculitis depends on the cause and symptoms of the underlying disease. The drugs prednisone, cyclophosphamide, methylprednisolone and pentoxifylline have proven to be successful in treating the autoimmune form of Vasculitis. Other treatment is symptomatic and supportive.
Therapies: Investigational
At the present time research is being conducted on the use of high-dose intravenous gamma-globulin for some forms of Vasculitis. Another study uses a combination of cytotoxic agents and steroids as possible treatments for certain types of Vasculitis. Plasmapheresis may be of benefit in some cases of Vasculitis. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. More research must be conducted to determine long-term safety and effectiveness of these drugs and procedures.
Clinical trials are underway to learn about the immunopathogenesis and optimal treatment of Vasculitis. Interested persons may wish to contact:
Barton F. Haynes
Box 3258
Duke University Medical Center
Durham, NC 27710
(919) 684-5093
to see if further patients are needed for this research.
This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Vasculitis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Heart, Lung and Blood Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 421-8453
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1288.
THE MERCK MANUAL, Volume 2, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp & Dohme Laboratories., 1982. Pp. 798.
PULMONARY DISEASES AND DISORDERS, Volume 2, 2nd Ed.: Alfred P. Fishman M.D., ed.-in-chief; McGraw-Hill Book Co., 1980. Pp. 1127.
CEREBRAL ANGIOGRAPHY AS A GUIDE FOR THERAPY IN ISOLATED CENTRAL NERVOUS
SYSTEM VASCULITIS. R. Stein et al.; JAMA, (April 24, 1987; issue 257 (16)). Pp. 2193.
DIAGNOSTIC STUDIES FOR SYSTEMIC NECROTIZING VASCULITIS.
SENSITIVITY, SPECIFICITY, AND PREDICTIVE VALUE IN PATIENTS WITH MULTISYSTEM
DISEASE. P.J. Dahlberg et al.; ARCH INTERN MED, (January 1989; issue 149 (1)). Pp. 161-165.
SEVERE LEUKOCYTOCLASTIC VASCULITIS OF THE SKIN IN A PATIENT WITH
ESSENTIAL MIXED CRYOGLOBULINEMIA TREATED WITH HIGH-DOSE GAMMA-GLOBULIN
INTRAVENOUSLY. B.W. Boom et al.; ARCH DERMATOL, (October 1988; issue 124 (10)). Pp. 1550.
CENTRAL NERVOUS SYSTEM VASCULITIS IN BEHCET'S SYNDROME; ANGIOGRAPHIC
IMPROVEMENT AFTER THERAPY WITH CYTOTOXIC AGENTS. J.D. Zelenski et al.; ARTHRITIS RHEUM, (February 1989; Issue 32 (2)). Pp. 217.
REVERSAL OF PROGRESSIVE NECROTIZING VASCULITIS WITH INTRAVENOUS PULSE
CYCLOPHOSPHAMIDE AND METHYLPREDNISOLONE. J.G. Fort et al.; ARTHRITIS RHEUM, (September 1988; Issue 31 (9)). Pp. 1194.
VASCULITIS IN OLDER PATIENTS: PRESENTATIONS AND SIGNIFICANCE. A.
&Copyright (C) 1989 National Organization for Rare Disorders, Inc.
698: Vasculitis, Cutaneous Necrotizing
_________________________
** IMPORTANT **
It is possible that the main title of the article (Cutaneous Necrotizing Vasculitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Dermal Necrotizing Angiitis
Information on the following diseases can be found in the Related Disorders section of this report:
Polyarteritis Nodosa
Hypersensitivity Vasculitis
Wegener's Granulomatosis
Schoenlein-Henoch Purpura
Rheumatoid Arthritis
Giant-Cell Arteritis
Sjogren Syndrome
Discoid Lupus Erythematosus
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Cutaneous Necrotizing Vasculitis is an inflammation of the blood vessel system which includes the veins, arteries and capillaries. It usually also affects the skin and may occur alone or in conjunction with allergic, infectious or rheumatic diseases.
Symptoms
Cutaneous Necrotizing Vasculitis is a common disorder characterized by an inflammation of the blood vessel walls and skin lesions. These skin lesions may be flat and red (macules), nodules or hemorrhages under the skin (purpura). They may occur on many areas of the body but are seen most often on the back, hands, buttocks, the inside areas of the forearm and the lower extremities. These skin symptoms may occur only once or at regular intervals. They will usually last for several weeks and may leave darkened spots and scarring. In some cases there may be wheel-like lesions that cause intense itching (urticaria), or ring-shaped lesions and ulcers. Blister-like lesions (vesicles, bullae) may develop in severe cases. There may also be fever, generalized discomfort (malaise), muscle or joint pain.
Causes
The exact cause of Cutaneous Necrotizing Vasculitis is unknown. Some lesions may be caused by an allergic reaction or hypersensitivity to certain medications such as sulfa or penicillin, other drugs, toxins, and inhaled environmental irritants. Skin manifestations may also occur because of a fungal infection, parasites or viral infections, while in some instances the cause may be due to an autoimmune disorder. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.) against invading organisms suddenly begin to attack healthy tissue.
Affected Population
Cutaneous Necrotizing Vasculitis affects males and females in equal numbers. It is a common inflammatory disorder.
Related Disorders
The following diseases can have similarities to Cutaneous Necrotizing Vasculitis:
Polyarteritis Nodosa is a group of systemic necrotizing vasculitis including the original classic polyarteritis nodosa, allergic granulomatosis, and those disorders that have the characteristics of both (an overlap syndrome). (For more information on this disorder, choose "Polyarteritis" as your search term in the Rare Disease Database).
Hypersensitivity Vasculitis includes a wide group of vasculitic syndromes that affect the upper and lower respiratory tract, kidneys and skin. They are usually caused by an allergic reaction to an unknown antigen.
Wegener's Granulomatosis is a rare collagen vascular disorder that begins as a localized inflammation of the upper and lower respiratory tract mucosa, and usually progresses into generalized inflammation of the blood vessels (vasculitis) and kidneys (glomulonephritis). (For more information on this disorder, choose "Wegener" as your search term in the Rare Disease Database).
Schoenlein-Henoch Purpura is one of a group of disorders characterized by purplish or brownish red discolorations of the skin. These spots may be large or small. Internal bleeding may occur in various areas of the body. This blood vessel disorder may affect the skin, joints, gastrointestinal system, kidneys, and in a very few cases the central nervous system. Little is known about the cause of this form of purpura although it may be an allergic reaction which more often occurs in children than adults. (For more information on this disorder, choose "Schoenlein" as your search term in the Rare Disease Database).
Rheumatoid Arthritis is a common autoimmune disease that affects the joints. The exact cause is unknown. It is characterized by a loss of appetite, extreme fatigue and joint pain with deformities. The location of painful joints may change place (migration) and often more than one joint is affected. Pain, early morning stiffness, aching joints chiefly in the hands, knees, feet, jaws, and spine occur. Once affected, a joint may remain painful for a long time and eventually become deformed. (For more information on this disorder, choose "Rheumatoid Arthritis" as your search term in the Rare Disease Database.
Giant-Cell Arteritis is a chronic inflammatory disease of the branches of the aortic arch. This disorder is found principally in the temporal and occipital arteries, but may develop in almost any of the large arteries. (For more information on this disorder, choose "Giant Cell" as your search term in the Rare Disease Database.)
Sjogren Syndrome is an autoimmune disorder causing degeneration of the tear and saliva glands. It is often associated with arthritis. Patients often complain of a gritty, burning sensation in their eyes due to loss of lubrication. When their mouths become dry, chewing and swallowing food is difficult. The lack of saliva causes particles of food to stick to the cheeks, gums, and throat. Other symptoms include a weak voice and dental decay, plus dryness of the nose, skin and vagina. (For more information on this disorder, choose "Sjogren" as your search term in the Rare Disease Database.)
Discoid Lupus Erythematosus is a chronic and recurrent autoimmune disorder primarily affecting the skin. It is characterized by sharply circumscribed spots (macules) and plaques displaying redness (erythema), plugging of follicles, scales, vascular lesions (telangiectasia), and wasting (atrophy). There are two varieties: one with lesions above the chin, the other with or without facial involvement but causing skin lesions on the rest of the body. (For more information on this disorder, choose "Lupus" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Cutaneous Necrotizing Vasculitis depends on the cause and symptoms. Removing the irritating agent (e.g., drug) and treating the underlying infection will usually eliminate the symptoms of this disorder. The drugs prednisone, cyclophosphamide, pentoxifylline and azathioprine have proven to be successful in treating the autoimmune form of Vasculitis. Other treatment is symptomatic and supportive.
Therapies: Investigational
At the present time research is being conducted on the use of high dose intravenous gammaglobulin for some forms of Cutaneous Vasculitis. Plasmapheresis may be of benefit in some cases. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research must be conducted to determine long-term safety and effectiveness of these treatments.
This disease entry is based upon medical information available through November 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Cutaneous Necrotizing Vasculitis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Heart, Lung and Blood Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 421-8453
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1366-1368.
PULMONARY DISEASES AND DISORDERS, Volume 2, 2nd Ed.: Alfred P. Fishman M.D. ed.-in-chief; McGraw-Hill Book Co., 1980. Pp. 381-384.
THE MERCK MANUAL, Volume 2, 14th Ed.: Robert Berkow, M.D. ed.-in-chief; Merck, Sharp & Dohme Laboratories., 1982. Pp. 798
DIAGNOSTIC STUDIES FOR SYSTEMIC NECROTIZING VASCULITIS. SENSITIVITY,
SPECIFICITY, AND PREDICTIVE VALUE IN PATIENTS WITH MULTISYSTEM DISEASE. P.J.
Dahlberg et al.; ARCH INTERN MED, (January 1989; issue 149 (1)). Pp. 161-165.
SEVERE LEUKOCYTOCLASTIC VASCULITIS OF THE SKIN IN A PATIENT WITH
ESSENTIAL MIXED CRYOGLOBULINEMIA TREATED WITH HIGH-DOSE GAMMA-GLOBULIN
INTRAVENOUSLY. B.W. Boom et al.; ARCH DERMATOL, (October 1988; issue 124 (10)). Pp. 1550.
URTICARIAL VASCULITIS PROGRESSING TO SYSTEMIC LUPUS ERYTHEMATOSUS. E.
Bisaccia et al.; ARCH DERMATOL, (July 1988; issue 124 (7)). Pp. 1088-1090.
LIVEDO VASCULITIS. THERAPY WITH PENTOXIFYLLINE. W. Sams. ARCH DERMATOL, (May 1988; issue 124 (5)). Pp. 684-687.
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169: Ventricular Septal Defects
_________________________
** IMPORTANT **
It is possible that the main title of the article (Ventricular Septal Defects) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
DISORDER SUBDIVISIONS
Roger's Disease, also known as Maladie de Roger
Common Ventricle, also known as Cor Triloculare Biatriatum
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Ventricular Septal Defects are a relatively common form of congenital heart disease. The septum separating the two ventricles is incompletely formed before birth. This can result in inefficient distribution of oxygen to the various tissues of the body and various degrees of congestive heart failure, manifested by edema, difficulty breathing, and rapid heart beat. The size of the opening in the septum determines the clinical severity of the disorder. Some patients with large defects do not survive infancy. In addition, the lungs can be permanently damaged by the abnormal pulmonary blood pressures generated. Occasionally, ventricular septal defects may close spontaneously or become relatively less significant as the heart grows along with the rest of the body. The patterns and quality of the sounds of the beating heart, electrocardiographic (EKG) and echocardiographic findings, and information from cardiac catheterization help determine the exact anatomic defect and differentiate ventricular septal defects from other heart conditions with similar symptoms. Heart sounds evaluation and the EKG are the most commonly performed initial investigations for these purposes.
Symptoms
First, a short review of the structure and function of the normal heart. The human heart has 4 chambers, that is, two atria and two ventricles. Deoxygenated blood enters the right atrium from the systemic veins (i.e., the veins draining all the body organs and tissues except the lungs). It is pumped from the right atrium to the right ventricle and from the right ventricle to the pulmonary artery. The pulmonary artery carries the blood to the lungs, where it is saturated with oxygen. From the lungs, the blood passes through the pulmonary veins to the left atrium, and thence into the left ventricle, the most muscular of the four chambers of the heart. The contraction of the left ventricle forces the blood back into the systemic circulation where it supplies oxygen to the various body tissues. Blood then collects in veins which eventually come together and drain again into the right atrium. The two atria are separated from each other by a relatively thin membrane known as the atrial septum. The ventricular septum separates the right and the left ventricles.
In ventricular septal defects the membrane separating the ventricles (septum) is incomplete. A small defect, causing minor or no symptoms, is known as Roger's Disease. Sometimes the hole is very high in the ventricular septum, adjacent to the atria, so the communication is between the left ventricle and the right atrium; symptoms resemble those of pure ventricular septal defects. A very large opening causes severe symptoms. If the septum is entirely absent, the two ventricles constitute a single chamber. This condition is known as Common Ventricle or Cor Triloculorum Biatriatum.
Septal defects allow deoxygenated blood from the right ventricle to mix with freshly oxygenated blood from the left ventricle. Although the blood tends to move from left to right in ventricular defects, maintaining a fairly high average saturation in the systemic circulation, some decrease in the overall availability of oxygen to the body tissues usually occurs. More significantly, however, large defects create abnormal pressure conditions in the pulmonary and systemic circulation. As hypertension (high blood pressure) gradually develops in the lungs, the pulmonary vasculature is permanently damaged, often by the time the patient reaches adolescence.
Small defects may cause no symptoms, or mild signs of congestive heart failure such as slight generalized edema and breathing difficulty after exercise or with fatigue. In infants, poor feeding due to fatigue, cold grayish extremities, and rapid shallow breathing can indicate heart disease.
In infants and children, large defects can cause growth retardation and potentially fatal heart failure. In adults, difficulty breathing after physical exertion, chest pain, episodes of fainting, coughing up of blood, and signs of extremely low oxygen saturation of the blood in the tissues, including bluish skin coloration (cyanosis), clubbing of the fingers, and a high concentration of red blood cells may occur.
Ventricular septal defects of moderate size are characterized by enlargement of the heart, milder and less progressive symptoms, and characteristic heart sounds and EKG.
When there is a common ventricle, symptoms resemble those of large septal defects. The systemic and pulmonary circulation always mixes, although cyanosis and similar signs of poor oxygen delivery may not be as severe as expected. Pulmonary hypertension and its consequences are likely to develop.
Heart defects seem to predispose patients to respiratory infections and bacterial infection of the inner lining of the heart (bacterial endocarditis). Bacterial endocarditis seems to occur more often with small or moderate sized septal defects. These infections should be avoided, particularly since resulting damage is likely to worsen the patient's condition.
Causes
The causes of the arrest in embryonic development resulting in congenital heart disease are poorly understood. Only about 10% of the cases appear to be hereditary. Maternal rubella (measles), alcoholism or diabetes have been associated with some heart defects. Ostium primum defects often occur in individuals with Down's Syndrome, and certain other chromosomal abnormalities.
Affected Population
About 1% of live births have some kind of congenital heart defect; of these, about 30% have ventricular septal defects. Males are affected more often than females.
Related Disorders
Other congenital heart defects include atrial septal defects, valve defects of various kinds, malformations of the large vessels entering and leaving the heart, and anomalous positions of the heart in the chest. Tetralogy of Fallot consists of four heart abnormalities that occur together, and include a large ventricular septal defect.
Therapies: Standard
The definitive treatment for ventricular septal defects is surgical. The hole in the septum is either sutured shut or patched with a graft. The success rate is quite high. Surgery is indicated when significant shunting appears, especially when resistance to the entry of blood into the lungs is high. It is most successful in patients between the ages of 3 and 6 years.
Presurgical, palliative treatment includes medication such as digitalis to treat arrhythmias, excessively rapid heart beat, and stop heart failure. Sodium restriction, diuretics and rest are also effective in treating congestive heart failure. Respiratory infections are treated vigorously, and antibiotics are given prophylactically with such procedures as tooth extractions to reduce the risk of developing bacterial endocarditis.
Therapies: Investigational
This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Ventricular Septal Defects, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
American Heart Association
7320 Greenville Avenue
Dallas, TX 75231
(214) 750-5300
NIH/National Heart, Lung, and Blood Institute (NHLBI)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
Petersdorf, Robert G., et al, editors, Harrison's Principles of Internal Medicine, tenth edition. New York: McGraw-Hill 1983, Pp. 1383-96.
THE MERCK MANUAL, 15th ed., Robert Berkow, M.D., ed in chief, published by Merck, Sharp & Dohme Research Labs, Rahway, NJ, 1987. Pp. 1926, 358.
THE CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden and Lloyd H. Smith, Jr., Eds; W.B. Saunders Co. 1988. Pp. 306.
Ventricular Septal Defects
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541: Vitamin B12 Deficiency
_________________________
** IMPORTANT **
It is possible the main title of the article (Vitamin B12 Deficiency) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article.
Synonyms
Cobalamin Deficiency
Information on the following disorders may be found in the Related Disorders section of this report:
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Vitamin B12 Deficiency is characterized by an abnormally low level of this vitamin in the blood. The disorder can be caused by a poor diet, inadequate absorption or utilization of B12 such as following stomach and intestinal surgery and increase in certain intestinal organisms. The deficiency causes changes in the blood and the central nervous system. Injection of this vitamin usually cures the disorder if the underlying cause can be corrected.
Symptoms
Symptoms of Vitamin B12 Deficiency usually appear years after absorption of this vitamin ceases, because the amount of B12 needed by the body is tiny, and a large amount is usually stored in the liver. In most patients, a low red blood cell count (anemia) develops gradually and progressively as the stores of Vitamin B12 in the liver are used up. Patients may not be alerted to the deficiency because of its slow development. Occasionally the spleen and liver may become enlarged (hepatosplenomegaly). Patients with this deficiency may also have various gastrointestinal symptoms such as a lack of appetite (anorexia), intermittent constipation and diarrhea, and poorly localized abdominal pain. An inflamed tongue (glossitis), usually described as "burning of the tongue", may be an early symptom of Vitamin B12 Deficiency. Considerable weight loss is common.
Nervous System: The nervous system may be involved, even in the absence of anemia. Most commonly, the nerves outside the brain and spinal cord (peripheral nerves) are involved. The spinal cord may be involved, beginning with loss of vibratory sensation in the lower extremities, loss of position sense and loss of muscle coordination (ataxia). Later, spasticity, exaggerated reflexes, and upward flexing of the big toe upon stimulating the sole of the foot (Babinski reflex) follows. Some patients with Vitamin B12 Deficiency also get irritated easily, have mild depressions, or actual paranoia (megaloblastic madness). Rarely, yellow-blue color blindness may occur.
Causes
Vitamin B12 Deficiency is caused by decreased absorption of this vitamin. It is most often due to pernicious anemia which causes the mucous lining of the stomach to fail to secrete the so-called "intrinsic factor" which is needed for vitamin B12 absorption. The surgical removal of part or all of the stomach (gastrectomy), and chronic infection causing wasting of the stomach may also cause deficient secretion of intrinsic factor. Deficiency of certain endocrine glands (especially thyroid and adrenal glands) if they are associated with pernicious anemia, suggest an autoimmune basis for underdevelopment of stomach mucous membrane. Autoimmune disorders are caused when the body's natural defenses (antibodies) against invading organisms, for unknown reasons, attack healthy tissue.
Affected Population
Vitamin B12 Deficiency affects males and females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Vitamin B12 Deficiency or may be associated with it. Comparisons may be useful for a differential diagnosis:
Pernicious Anemia is a disorder resulting from an impaired absorption of vitamin B-12, a necessary co-factor in the production of red blood cells. Pernicious Anemia develops slowly because the liver stores enough vitamin B-12 to last 3 to 5 years. The abnormally low number of red blood cells (anemia) may produce weakness, easy fatigability, shortness of breath (dyspnea), an abnormally rapid heart beat (tachypnea) and angina. Possible gastrointestinal problems are similar to those of Vitamin B-12 Deficiency. (For more information, choose "Pernicious Anemia as your search term in the Rare Disease Database.)
Burning Mouth Syndrome (Burning Tongue Syndrome) is characterized by a burning sensation in the mouth and/or the tongue. There is no obvious clinical evidence of inflammation, although a Candida albicans infection can be a cause. The cause of most cases Burning Mouth Syndrome, when it is not associated with Vitamin B12 Deficiency, is unknown. Many causes have been suggested by researchers, including allergic reactions to pollen, cereals, metals and materials used in the manufacture of dentures. Burning Tongue may be an early symptom of Vitamin B-12 Deficiency. (For more information, choose "Burning Mouth Syndrome" as your search term.)
Therapies: Standard
Treatment for the anemia of Vitamin B12 Deficiency consists of intramuscular injections of vitamin B12 until the blood and neurologic abnormalities are cleared up. Oral iron therapy is prescribed if an iron deficiency is also diagnosed.
If the underlying mechanism of Vitamin B12 Deficiency is known, this should be corrected.
Therapies: Investigational
The National Institute of Arthritis, Musculoskeletal and Skin Diseases is looking for patients with various kinds of Ichthyosis willing to participate in research aimed at mapping the genes responsible for their disorder. Interested persons may contact:
Dr. Sherri Bale
National Institute of Arthritis, Musculoskeletal and Skin Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 402-2679
This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Vitamin B12 Deficiency, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Cobalamin Network
P.O. Box 174
Thetford Center, VT 05075
(802) 785-4029 (after 8:00 p.m. EST)
National Digestive Diseases Information Clearinghouse
Box NDIC
Bethesda, MD 20892
(301) 468-2162
NIH/National Heart, Blood & Lung Institute
Office of Public Inquiries
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
References
INTERNAL MEDICINE, 2nd ed.: Jay H. Stein, et al., eds.; Little, Brown, 1987. Pp. 1039-1040.
ISOTOPE-DILUTION ASSAY FOR URINARY METHYLMALONIC ACID IN THE DIAGNOSIS OF
VITAMIN B12 DEFICIENCY. A PROSPECTIVE CLINICAL EVALUATION: D.B. Matchar, et al.; Ann Intern Med (May 1987: issue 106(5)). Pp. 707-710.
MEGALOBLASTIC ANAEMIA IN A VEGETARIAN HINDU COMMUNITY: I. Chanarin, et al.; Lancet (November 23, 1985: issue 2(8465)). Pp. 1168-1172.
PRENATAL VITAMIN B12 THERAPY OF A FETUS WITH METHYLCOBALAMIN DEFICIENCY (COBALAMIN E DISEASE): D.S. Rosenblatt, et al.; Lancet (May 18, 1985: issue (8)).
PHYSICIAN RESPONSE TO LOW SERUM COBALAMIN LEVELS: R. Carmel, et al.; Arch Intern Med (June 1986: 146(6)). Pp. 1161-1165.
Vitamin B12 DeficiencyE
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658: Vitamin E Deficiency
_________________________
** IMPORTANT **
It is possible that the main title of the article (Vitamin E Deficiency) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Tocopherol Deficiency
Information on the following diseases can be found in the Related Disorders section of this report:
Friedreich's Ataxia
Marie's Ataxia
Olivopontocerebellar Atrophy
Charcot-Marie-Tooth Disease
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Vitamin E Deficiency is extremely rare, except in people who have a disease that causes vitamin malabsorption. It is characterized by an abnormally low level of this vitamin in the blood. Vitamin E Deficiency may lead to a rare, progressive neuromuscular disease which is characterized by loss of reflexes (areflexia), loss of balance and impaired sensations. This disorder occurs most often in infants who have an impairment of their bile flow due to a disease.
Symptoms
The first sign of the Vitamin E Deficiency, 'Neurologic Syndrome', is usually a decrease or loss of reflexes (areflexia). This may progress to loss of coordination (ataxia), balance, and muscle weakness of the arms and legs. There may be walking difficulties such as stumbling and staggering (titubation) and abnormal posturing. Abnormal eye movements (ophthalmoplegia) and extreme slowness of movement (bradykinesia) may occur. Sensation of pain, vibration, and position may be impaired.
Vitamin E Deficiency in premature and low-birth-weight infants may cause abnormal destruction of red blood cells (hemolytic anemia). The disorder primarily occurs in babies who have an impairment of their bile flow.
Causes
Vitamin E, a fat soluble vitamin, is needed in very small amounts. It is stored in the body's fat. Therefore, it is not necessary to consume vitamin E daily, as long as adequate amounts are stored in the body from a well balanced diet. Vitamin E is found in various foods including vegetable oils, wheat germ, whole-grain cereals, egg yolk, and liver.
Rarely is Vitamin E Deficiency caused by poor diet. It usually is caused by an underlying disease that impairs the absorption of this vitamin from fat. Common underlying diseases are fat malabsorption disorders, liver diseases, or disorders of bile secretion. The liver stores the Vitamin E-containing fat. Bile breaks down dietary fat in the small intestine so that vitamins can be absorbed.
Vitamin E malabsorption commonly occurs with Cholestasis (a syndrome of various causes characterized by impaired bile secretion) and less commonly with Cystic Fibrosis (primarily a lung disorder that may also affect bile secretion). Malabsorption of Vitamin E may also occur in Primary Biliary Cirrhosis (a liver disorder that results in cholestasis) and Acanthocytosis or Abetalipoproteinemia (a digestive disorder characterized by fat malabsorption).
For more information on the above disorders, choose "cholestasis," "cystic fibrosis," "acanthocytosis," and "Primary Biliary Cirrhosis" as your search terms in the Rare Disease Database.)
Recent research investigating the cause of Vitamin E Deficiency in patients with no underlying disease has suggested an inherited defect of vitamin E storage.
Affected Population
Vitamin E Deficiency is extremely rare in the absence of an underlying disorder. It is more common in infants, children, and young adults than in adults. It affects males and females in equal numbers except when an underlying disorder affects one sex more readily.
Approximately 1 in 5,000 infants have an impairment of their bile flow due to liver diseases such as hepatitis or biliary atresia. Vitamin E Deficiency in these infants causes degenerative progressive neuromuscular disease.
Related Disorders
Symptoms of the following disorders can be similar to those of the "Neurologic Syndrome" caused by Vitamin E Deficiency. Comparisons may be useful for a differential diagnosis:
Friedreich's Ataxia is a hereditary neuromuscular syndrome characterized by slow degenerative changes of the spinal cord and the brain. Dysfunction of the central nervous system affects coordination of the muscles in the limbs. Staggering, lurching, or trembling may occur while standing or walking. Partial loss of the sense of touch or sensitivity to pain and temperature may also occur. Reflexes may decrease or disappear and numbness or weakness of the arms and legs may develop. Speech may be impaired. Curvature of the spine (scoliosis), abnormally high arches with hyperextended big toes, Diabetes Mellitus, and irregular heart function may also occur. This form of ataxia usually first appears in adolescents. (For more information on this disorder, choose "Friedreich's Ataxia" as your search term in the Rare Disease Database).
Marie's Ataxia is a hereditary disorder of impaired muscle coordination usually beginning during young adulthood or middle age. It is characterized by unsteady walking and muscle weakness in the legs, head, neck, and arms. Unsteadiness in walking, impaired coordination of the arms, and impaired speech may occur. Swallowing and clearing of secretions (as from the lungs) can become difficult. Reflex abnormalities, involuntary muscle contractions, and altered pain and touch sensations may also occur. (For more information on this disorder, choose "Marie's Ataxia" as your search term in the Rare Disease Database).
Olivopontocerebellar Atrophy is a group of inherited forms of Ataxia characterized by progressive degeneration of part of the brain. Loss of muscle coordination, tremors, involuntary movements, and speech problems (dysarthria) are common. Sensory loss, degeneration of the light-sensitive layer of the eye (retina), abnormal eye movements (ophthalmoplegia), and problems in walking, writing, and thinking may occur in certain forms of this disorder. Olivopontocerebellar Atrophy usually affects older adults. (For more information on this disorder, choose "Olivopontocerebellar" as your search term in the Rare Disease Database).
Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy, also known as CMT Disease,) is a slowly progressive, hereditary neuromuscular disorder. It is characterized by weakness and atrophy of the legs and later the hands and forearms. An extremely high arch and flexed toes may cause difficulty in walking. Impaired sensations of vibration, pain, touch, and heat may occur. Stretch reflexes may be absent. This disease usually appears during middle childhood and adulthood. (For more information on this disorder, choose "CMT" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Vitamin E Deficiency with very large oral supplements of Vitamin E is not effective. Alpha tocopherol, alpha tocopheryl acetate, and alpha tocopheryl succinate have not been used successfully. If the disorder is caused by an underlying disease, treatment to correct the defect (e.g. removal of the obstruction in the bile duct) when possible, is the primary treatment.
Therapies: Investigational
Since Vitamin E Deficient patients do not respond to oral Vitamin E, other treatments are being investigated.
Injection of an investigational form of vitamin E (dl-alpha-tocopherol) into muscles is being studied. In some cases it has stabilized or reversed the neurologic symptoms caused by Vitamin E Deficiency. This experimental drug is manufactured by Hoffmann-La Roche.
A water-soluble form of Vitamin E (d-alpha tocopheryl polyethylene glycol-1000 succinate, or TPGS), which does not require bile to be absorbed from the intestine, is being investigated under a grant from the National Organization for Rare Disorders (NORD) by Dr. Ronald Sokol of the University of Colorado. Preliminary studies indicate that it may stabilize or reverse neurologic dysfunction in infants with bile duct obstruction.
Participants in this study must be older than six months and under 20 years of age. Their Vitamin E Deficiency must be caused by some form of cholestatic hepatobiliary liver disease. Physicians with patients who are interested in participating in this study should contact:
Ronald J. Sokol, M.D.
Associate Professor of Pediatrics
University of Colorado School of Medicine
Box C228
4200 East Ninth Avenue
Denver, CO 80262
(303) 270-7805
This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Vitamin E Deficiency, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Digestive Diseases Information Clearinghouse
P.O. Box NDDIC
Bethesda, MD 20892
(301) 468-6344
American Liver Foundation
1425 Pompton Ave.
Cedar Grove, N.J. 07009
(201) 857-2626
(800) 223-0179
The United Liver Foundation
11646 West Pico Blvd.
Los Angeles, CA 90064
(213) 445-4204 or 445-4200
Children's Liver Foundation
14245 Ventura Blvd.
Sherman Oaks, CA 91423
(818) 906-3021
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 278, 282-283.
INTRAMUSCULAR VITAMIN E REPLETION IN CHILDREN WITH CHRONIC CHOLESTASIS:
D.H. Perlmutter, et al.; Am J Dis Child (February, 1987: issue 141(2)). Pp. 170-174.
VITAMIN E DEFICIENCY AND NEUROLOGIC DISEASE IN ADULTS WITH CYSTIC
FIBROSIS: M.D. Sitrin, et al.; Ann Intern Med (July, 1987: issue 107(1)). Pp. 51-54.
VITAMIN E DEFICIENCY LINKED TO LIVER DISEASE IN CHILDREN: C. Pierce; Research Resources Reporter (October, 1986); National Institutes of Health. Pp. 7-9.
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647: Treacher Collins Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article Treacher Collins) Syndrome is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
MFDI
Mandibulofacial Dysostosis
Franceschetti-Klein Syndrome
Information on the following diseases can be found in the Related Disorders section of this report:
Nager Acrofacial Dysostosis
Goldenhar-Gorlin Syndrome
Oral-Digital-Facial Syndrome
Juberg-Hayword Syndrome
Hemifacial Microsomia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Treacher Collins Syndrome is a rare genetic disorder characterized by slanted eyes, difficulty swallowing, deformities of the jaw (including maxilla and mandible), ears and deafness.
Symptoms
Treacher Collins Syndrome is characterized by underdevelopment of the cheek (malar), the lower jaw (mandibular) and jaw bones, slanted eyes, notching of lower eyelids, and a receding chin. Underdevelopment of the jaw may cause problems in swallowing or breathing for the newborn, tubes may have to be inserted to aid the infant in feeding and breathing. The outer upper area of the ear (pinna) may be malformed as well as the external hearing canal (auditory meatus). The eardrum (tympanic membrane) may be replaced with a bony plate. The combination of a longer than normal face with a beaklike nose, receding chin and acute deafness, characterize the appearance of patients with Treacher Collins Syndrome.
Causes
Treacher Collins is a rare genetic disorder which may result from a defect on the long arm of chromosome five. However, genetic studies are still in the process of determining the exact location of the genetic defect. This syndrome is inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.) A positive family history is found in less than half of new Treacher Collins patients. Thus, scientists suspect that approximately sixty percent of cases represent genetic mutations.
Affected Population
Treacher Collins Syndrome is a rare disorder that affects males and females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Treacher Collins. Comparisons may be useful for a differential diagnosis:
Nager Acrofacial Dysostosis (Mandibulofacial Dysostosis) is a rare hereditary disorder marked by abnormal facial development. Cleft lip and palate, defective development of bones of the jaw and arms, and smaller than normal thumbs, hearing loss, and ear deformities are characteristics of this disorder.
Goldenhar-Gorlin Syndrome is a rare congenital disorder that involves unusual facial characteristics. The facial structure of people with Goldenhar Syndrome may include partial absence of the upper eyelid or an unusual slant of the eyelid, abnormal shape of the skull (asymmetry), the forehead may be sharply prominent, the nostrils may be absent or closed, the roof of the mouth may be clefted (cleft palate), and there may be abnormal growth of the jaw. Paralysis of the eye muscles may occur. Unusual cysts on the eyeball, cysts in fatty tissue at the edge of the eye and skin growths around the ears (skin tags) may also occur. Malformations of the spinal column including open spine (spina bifida), fusion of the top of the spine to the lower edge of the skull, incomplete development of one side of the spinal column and more than the normal number of vertebrae may also be present. (For more information on this disorder, choose "Goldenhar" as your search term in the Rare Disease Database).
Oral-Facial-Digital Syndrome is a rare genetic disorder characterized by episodic neuromuscular disturbances, split tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that supports the tongue(frenulum), a broad based nose, vertical folds of skin covering the inner angle where the eyelids meet (epicanthic folds), more than the normal number of fingers and/or toes, and shorter than normal fingers and/or toes. (For more information on this disorder, choose "OFD" as your search term in the Rare Disease Database).
Juberg-Hayward Syndrome (Orocraniodigital Syndrome) is a rare hereditary disorder characterized by cleft lip and palate, a smaller than normal sized head, deformities of the thumbs and toes, and growth hormone deficiency resulting in short stature.
Hemifacial Microsomia (HFM) is a syndrome that affects one in 5,000 births. It can be confused with a Treacher Collins-like syndrome. However, it is not genetic. Although it can cause abnormalities on both sides of the face, they are always uneven whereas in Treacher Collins Syndrome both sides of the face appear equally affected. The facial nerve is frequently paralyzed in Hemifacial Microsomia. The variety of features of HFN include: underdevelopment of the lower jaw, tilting of the face to one side, ear deformities (microtia), facial nerve weakness in forty percent of patients, cleft-like notching of the affected corner of the mouth (macrostomia), and underdevelopment of the cheek and eye on the affected side of the face. Other common abnormalities include fatty tumors over the eye, abnormalities of the vertebrae and ribs, cleft lip/palate, and heart and kidney abnormalities which are very rare.
Therapies: Standard
Treatment of Treacher Collins Syndrome may include insertion of feeding or breathing tubes during infancy. Early speech and hearing evaluations may be necessary. Surgery to improve the appearance of the jaw and ears may be recommended. Depending on the type of hearing loss the patient has, surgery or the use of hearing aids may restore hearing. Speech/language difficulties may require speech/language therapy. The surgical treatment of Treacher Collins children is based on the age of the child. During infancy, attention is directed toward the upper airway. A tracheostomy may be necessary. During the first year of life, notching of the lower eyelids can be repaired. In the preschool and early school years, attention is directed toward correction of slanting eyelids, and flat cheek bones. Correction of the jaws and malocclusion is usually done in stages, the final corrections are done in teenage years, along with orthodontic therapy. Surgical correction of the external ear abnormalities may be done prior to school age for minor forms. If the major portion of the ear is missing, it is best to wait until age six so that sufficient rib cartilage is available for framework and grafting. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
Scientists are studying various surgical methods to improve the appearance of Treacher Collins patients. One of the most recent procedures developed for correction of the malformations of the jaw (maxilla and mandible), and eyes is the Tessier Intergral Procedure. The desired results may be obtained in either one or two stages.
Researchers at Johns Hopkins Hospital are trying to deteremine the genes responsible for craniofacial disorders. Physicians may contact: Drs. Amy Feldman Lewanda or Ethylin Wang Jabs at: CMSC 10, Johns Hopkins Hospital, Baltimore, MD, 21205, (301) 955-0484.
This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Treacher Collins Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Treacher Collins Foundation
P.O. Box 683
Norwich, VT 05055
(802) 649-3020
National Institute of Child Health & Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
Forward Face
560 First Ave.
New York, NY 10016
(212) 263-5205
(800) 422-FACE
FACES
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
Let's Face It
Box 711
Concord, MA 01742
(508) 371-3186
National Craniofacial Foundation
3100 Carlisle Street, Suite 215
Dallas, TX 75204
1-800-535-3643
American Society for Deaf Children
814 Thayer Avenue
Silver Spring, MD 20910
(301) 585-5400 Voice/TTY
Deafness Research Foundation
55 East 34th Street
New York, NY 10016
(212) 684-6556
Craniofacial Centre Children's Hospital
300 Longwood Ave.
Boston, MA 02115
(617) 735-6309
For Genetic Information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.480.
PSYCHOSOCIAL ADJUSTMENT OF 20 PATIENTS WITH TREACHER COLLINS SYNDROME BEFORE AND AFTER RECONSTRUCTIVE SURGERY. E.M. Arndt, et al,; Br J Plast Surg (November, 1987, issue 40 (6)). Pp. 605-609.
ANTHROPOMETRIC EVALUATION OF DYSMORPHOLOGY IN CRANIOFACIAL ANOMALIES;
TREACHER COLLINS SYNDROME. J.C. Kolar, et al.; Am J Phys Anthropol (December, 1987, issue 74 (4)). Pp. 441-451.
FAMILIAL TREACHER COLLINS SYNDROME. P.S. Murty, et al.; J Laryndol Otol (July, 1988, issue 102 (7)). Pp. 620-622.
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386: Tricho-Dento-Osseous Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Tricho-Dento-Osseous Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article.
Synonyms
Osteosclerosis
Taurodontism-Curly Hair-Osteosclerosis
TDOS
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tricho-Dento-Osseous Syndrome (TDOS) is one of a group of disorders known as the Ectodermal Dysplasias. Intelligence and life span are usually normal for individuals with this disorder. The condition primarily affects the teeth, hair and bones. Children with TDOS may need to wear dentures due to absence of teeth.
Symptoms
X-ray examination of individuals with Tricho-Dento-Osseous Syndrome (TDOS) usually shows increased bone density. Babies with this disorder have curly eyelashes with thick and kinky hair that tends to straighten with age. Nails are thin and are likely to peel or break. The major symptom involves the teeth, which often become abscessed during the first years of life. Tooth enamel may become yellow brown, thin and pitted. Large pulp chambers (taurodontia) in teeth can be found with dental X-rays. Additionally, teeth may not grow at the appropriate times during infancy. Therefore, children affected by TDOS may lose their teeth and/or have delayed tooth growth.
Causes
Tricho-Dento-Osseous Syndrome (TDOS) is inherited as an autosomal dominant trait. A defect in ectodermal cells involving the formation and structure of teeth, hair and nails causes symptoms of this disorder.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
Affected Population
Tricho-Dento-Osseous Syndrome (TDOS) is a very rare disorder that is present at birth. It affects males and females in equal numbers. It can also occur in conjunction with other hereditary disorders.
Related Disorders
Tricho-Dento-Osseous Syndrome (TDOS) is one of the Ectodermal Dysplasias. These disorders are a group of hereditary, non-progressive syndromes in which the affected tissue is derived primarily from the ectodermal cell layer. The skin, its derivatives, and some other organs may be involved. A predisposition to respiratory infections is a serious problem often associated with this group of disorders. This is due to a somewhat depressed immune system and dysfunctioning mucous glands in parts of the respiratory tract. However, there is no marked involvement of the respiratory system in the Tricho-Dento-Osseous Syndrome form of Ectodermal Dysplasia.
For more information, choose "Ectodermal Dysplasia" as your search term in the Rare Disease Database.
Therapies: Standard
Treatment of dental problems of Tricho-Dento-Osseous Syndrome (TDOS) usually involves early restoration of teeth with jacket crowns and/or prosthetic replacement (false teeth). Genetic counseling may be of benefit to families of patients with this disorder.
Therapies: Investigational
This disease entry is based upon medical information available through February 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tricho-Dento-Osseous Syndrome (TDOS), please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Foundation for Ectodermal Dysplasias
219 E. Main St.
Mascoutah, IL 62258
(618) 566-2020
NIH/National Institute of Dental Research
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4261
For more information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
A TRICHO-ODONTO-ONYCHIAL SUBTYPE OF ECTODERMAL DYSPLASIA: H. Kresbach, et al; Z Hautkr (May 1, 1984, issue 59(9)). Pp. 601-613.
Tricho-Dento-Osseous Syndrome: HETEROGENEITY OR CLINICAL VARIABILITY: S.D. Shapiro, et al.; Am J Med Genet (October 1983, issue 16(2)). Pp. 225-236.
Tricho-Dento-Osseous Syndrome: A SCANNING ELECTRON MICROSCOPIC ANALYSIS: M. Melnick, et al.; Clin Genet (July 1977, issue 12(1)). Pp. 17-27.
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!Copyright (C) 1989 National Organization for Rare Disorders, Inc.
732: Trichorhinophalangeal Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Trichorhinophalangeal Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article.
Synonyms
TRPS
TRP Syndrome
Langer-Giedion Syndrome
Disorder Subdivisions
Trichorhinophalangeal Syndrome, Type I
Trichorhinophalangeal Syndrome, Type II
Information on the following diseases can be found in the Related Disorders section of this report:
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Trichorhinophalangeal Syndrome (TRPS), Types I and II, are forms of Ectodermal Dysplasia. They are primarily characterized by abnormalities of the bones and thin, brittle hair. Some individuals with this disorder may not obtain normal height. The fingers are abnormally developed and facial appearance is unusual. Mild to moderate retardation may occur in some cases although some individuals with TRPS Type I have normal intelligence. In some patients with Type II TRPS, chromosomal abnormalities have been identified. No such abnormalities have been found in TRPS Type I patients.
Symptoms
Trichorhinophalangeal Syndrome (TRPS), Type I, is characterized primarily by bone and hair abnormalities. Some of the finger joints are enlarged and the thumbs and big toes may be shorter than normal. Scalp hair is fine, sparse, and brittle, and may resemble the male baldness pattern. Some individuals may become completely bald. Eyebrows are thick near the nose, but extremely thin nearer the temples. The tip of the nose is bulbous and the upper lip is thin with a long mid-portion. Nails may be thin and extra teeth may be present in some cases. Intelligence is usually normal in patients with TRPS Type I.
Type II TRPS is also called the Langer-Siemens Syndrome. Facial appearance and hair abnormalities are similar to those found in TRPS Type I. However, spinal abnormalities may occur and fingers and toes may be shorter than normal. Mild to moderate mental retardation has been found in most affected individuals, although some patients may not be mentally retarded. Delayed onset of speech, and less frequently, hearing loss has occurred. Loose wrinkled skin and multiple bony bumps (exostoses) develop, usually by the third or fourth year of life, although these symptoms may be found as early as the end of the first year. These bumps are primarily located near the ends of bones of the arms and legs, although other bones may also be affected. An increased susceptibility to respiratory infections and hip dislocations may occur.
Causes
Trichorhinophalangeal Syndrome (TRPS), Type I, is usually inherited as an autosomal dominant trait, although a few affected families have been found to inherit the disorder as an autosomal recessive trait. TRPS Type II is believed to be genetic, although the exact mode of transmission has not yet been determined.
(Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.
In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.)
In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.)
Affected Population
All forms of ectodermal dysplasias are quite rare, and Trichorhinophalangeal Syndrome (TRPS) is extremely rare. Very few cases of Type I TRPS have been identified in the United States, with no information on sex distribution. Six males and one female have been reported with Type II TRPS in American medical literature since this type was first identified by Langer and Giedion in 1966.
Related Disorders
Symptoms of the following disorders can be similar to those of Trichorhinophalangeal Syndrome. Comparisons may be useful for a differential diagnosis.
Fibrodysplasia Ossificans Progressiva occasionally features abnormal fingers, toes, and/or spinal disks, broad, short necks, deafness, baldness, and mild mental retardation. Abnormal bone growths often occur. This disorder usually occurs sporadically, although some scientists believe it may be inherited.
Trichoonytic Hidrotic Ectodermal Dysplasia is characterized by abnormalities of the nails and hair. nails may be thickened and scalp hair is sparse or absent. The palms of the hands and soles of the feet tend to develop a hard, thickened, superficial layer.
Anhidrotic Ectodermal Dysplasia, also known as Christ-Siemens Syndrome, is characterized by a congenital absence of sweat glands resulting in heat intolerance. Sparse fragile hair, and, in some cases, deformed nails, may also develop. mental retardation may occur, breast tissue may be absent, and fingers may be webbed. Smooth, finely wrinkled skin, a sunken nose, and malformed or missing teeth may also occur.
For information on other types of ectodermal dysplasias, please choose "ectodermal dysplasia" as your search term in the Rare Disease Database.
Therapies: Standard
Treatment of Trichorhinophalangeal Syndrome is symptomatic and supportive. Dentures or hearing aids may be required. Some limb deformities and bony growths (exostoses) may be corrected by surgery. Agencies which provide assistance for mentally retarded individuals may be helpful. Genetic counseling will be of benefit for patients and their families.
Therapies: Investigational
This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Trichorhinophalangeal Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Foundation for Ectodermal Dysplasias
219 E. Main St.
Mascoutah, IL 62258
(618) 566-2020
NIH/National Institute of Child Health and Human Development (NICHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
TRICHORHINOPHALANGEAL DYSPLASIA (GIDEON SYNDROME). A CASE REPORT: G.B.
Kuna, et al; Clin Pediatr (Phila); (January 1978, issue 17 (1)). Pp. 96-98.
NEW CLINICAL OBSERVATIONS IN THE TRICHORHINOPHALANGEAL SYNDROME: R.M.
Goodman, et al., J. Craniofac Genet Dev Biol (1981), issue 1(1)). Pp. 15-29.
CLINICAL AND SCANNING ELECTRON MICROSCOPIC FINDINGS IN A SOLITARY CASE OF
TRICHORHINOPHALANGEAL SYNDROME TYPE I: E.P. Prens, et al.; Acta Derm Venereol (Stockh), (1984), issue 64(3)). Pp. 2449-253.
Trichorhinophalangeal Syndrome
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`"I"Copyright (C) 1990 National Organization for Rare Disorders, Inc.
768: Trichotillomania
_________________________
** IMPORTANT **
It is possible that the main title of the article (Trichotillomania) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Hair pulling
Information on the following diseases can be found in the Related Disorders section of this report:
Obsessive Compulsive Disorder
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Trichotillomania is a mental illness characterized by an overwhelming and irresistible impulse to pull out one's own hair. This results in patches of baldness, usually on the most easily accessible areas such as the scalp, eyebrows, eyelashes or beard. Mouthing of the hair (trichophagy) commonly follows the hair pulling. Trichotillomania is classified as a disorder of impulse control.
Symptoms
The principle symptom of Trichotillomania is the recurrent failure to resist impulses to pull out one's own hair. An individual with this disorder usually feels extremely tense immediately before pulling out the hair. The act of hair pulling usually results in a sense of release from this tension. Hairs may be broken off or pulled out. Patches of baldness usually result on the scalp. Other areas commonly involved are the eyebrows, eyelashes, and beard. Hair from the trunk, armpits and pubic area is less commonly pulled out.
Other symptoms of Trichotillomania include the appearance of short, broken strands of hair together with long, normal hairs in the affected areas. There is usually no scarring of the surface of the scalp. There may be a generalized itching or tingling in the involved areas, but pain does not routinely follow the hair plucking.
Individuals with Trichotillomania usually deny that the hair-pulling behavior exists, and often take great strides to conceal or camouflage the resultant baldness. Affected individuals may wear wigs and false eyelashes. When an affected individual exhibits unexplained baldness, a scalp biopsy will usually uncover the traumatic source. Plugs of fibrous protein (keratin) are found present in the scalp along with an absence of inflammation or scarring. There are usually characteristic changes in the structure of the hair follicle (trichomalacia).
People with Trichotillomania may also have symptoms of head-banging, nail-biting, scratching, gnawing, abrading or wearing off of the skin (excoriation) and other acts of self-mutilation. Children with Trichotillomania commonly suck their fingers. The disorder has been known to persist for two decades in some individuals. Approximately one-third of reported cases claim a duration of one year or less. Frequent periods of worsening symptoms and remissions are common.
Causes
The exact cause of Trichotillomania is not known. Approximately one-quarter of the reported cases have been linked to stressful situations such as disturbances in mother-child relationships, fear of being left alone and recent loss of a loved one. Psychoactive substance abuse may also contribute to the development of this disorder. Some scientists believe that Trichotillomania is a subcategory of Obsessive Compulsive Disorder (OCD) which may be caused by certain imbalances in brain chemicals (see OCD in related disorders section). When the onset of Trichotillomania occurs in adulthood, it commonly accompanies a psychotic disorder.
Affected Population
Trichotillomania usually occurs in childhood but cases have been reported with an onset as late as 62 years. The disorder is more common in individuals with Mental Retardation, Schizophrenia, Obsessive Compulsive Disorder or Borderline Personality Disorder. Eldest and only children are most often afflicted. Trichotillomania occurs more frequently in women. Some physicians estimate that Obsessive Compulsive Disorders such as Trichotillomania may affect as many as eight million Americans. However, epidemiological studies have never been conducted so it is impossible to estimate how many people without mental retardation are affected, and how many of those have Trichotillomania alone instead of other OCD symptoms (such as repeated hand washing).
Related Disorders
Symptoms of the following disorder can be similar to those of Trichotillomania. Comparisons may be useful for a differential diagnosis:
Obsessive Compulsive Disorder is characterized by recurrent obsessive and compulsive thoughts and actions. Obsessions are persistent ideas, thoughts, impulses or images that the patient knows are senseless. Attempts are made to ignore or suppress such thoughts or impulses, or to counteract them with some other thought or action. The individual recognizes that the obsessions are the product of his or her own mind, but they are difficult to resist. Many scientists believe that Trichotillomania and Obsessive Compulsive Disorder are caused by related brain chemical abnormalities because they are often responsive to the same drug treatments. (For more information on this disorder, choose "Obsessive Compulsive" as your search term in the Rare Disease Database).
Therapies: Standard
Medications which are used in treating Trichotillomania include chlorpromazine, isocarboxazid, amitriptyline and imipramine. Psychoanalysis, intensive psychotherapy, and behavior-modification therapy may be helpful in some cases.
Therapies: Investigational
The drug clomipramine, an antidepressant, is an FDA approved treatment for Obsessive Compulsive disease that is being investigated as a treatment for Trichotillomania. Clomipramine works by enhancing the action of brain serotonin (one of the chemicals that transmits messages between nerve cells). The drug is manufactured by Ciba-Geigy.
The National Institutes of Health (NIH) is looking for males from ages 6-60 for a study on Trichotillomania. If persons of this age group want to get information concerning the study on the compulsion to pull out hair on their head, eyelashes, eyebrows, or any other place on their body, call Marge Lenane at (301) 496-6081 for information about this drug study being carried out by the National Institutes of Mental Health.
This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Trichotillomania, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Obsessive-Compulsive Disorder Foundation
P.O. Box 60
Vernon, CT 06066
(203) 255-8844
National Mental Health Association
1021 Prince Street
Alexandria, VA 22314
National Alliance for the Mentally Ill
1901 N. Fort Meyer Dr., Suite 500
Arlington, VA 22209
(703) 524-7600
National Mental Health Consumer Self-Help Clearinghouse
311 S. Juniper St., Rm. 902
Philadelphia, PA 19107
(215) 735-2481
NIH/National Institute of Mental Health (NIMH)
9000 Rockville Pike
Bethesda, MD 20205
(301) 443-4515 or (301) 496-1752
(800) 421-4211 (24 hrs.)
Dr. Wayne Goodman
Clinical Neuroscience Research Unit
Yale School of Medicine
CT Mental Health Center
34 Park Street, 3rd Floor
New Haven, CT 06508
(203) 798-7334
References
DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS, 3d.: R.L. Spitzer, et al., eds; American Psychiatric Association, 1984. Pp. 326-328.
THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 2281.
RETURN OF SYMPTOMS AFTER DISCONTINUATION OF CLOMIPRAMINE IN PATIENTS WITH
OBSESSIVE COMPULSIVE DISORDER. M.T. Pato et al.; AM J Psychiatry (December, 1988: issue 145 (12)). Pp. 1521-1525.
TRICHOTILLOMANIA IN CHILDHOOD. A.P. Oranje et al.; J AM ACAD DERMATOL (October, 1986: issue 15 (4 Pt. 1)). Pp. 614-619.
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273: Trigeminal Neuralgia (Tic Douloureux)
_________________________
** IMPORTANT **
It is possible the main title of the article (Trigeminal Neuralgia) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Tic Douloureux
Fothergill Disease
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Trigeminal Neuralgia, also known as Tic Douloureux is a nerve disorder characterized by attacks of acute pain at the side of the mouth and nose, along distribution of the trigeminal nerve.
Symptoms
The most noteworthy symptom of Trigeminal Neuralgia is the recurrence of episodes of intense, lancinating pain at the upper jaw and side of the nose. The pain may be triggered both by tactile stimuli such as the brushing of the teeth or chewing, and by extreme heat or cold. Symptoms are limited in most cases to one side of the face, with flushing of the skin and tearing of the eye on the affected side. Another sign of the disorder is excessive salivation. What distinguishes Trigeminal Neuralgia from similar disorders is the extremely short duration of the attack, usually only a few seconds, and the specificity of the region where pain is most intense. Also distinctive in the diagnosis of Trigeminal Neuralgia is its lack of any clinical or pathologic signs.
Causes
Trigeminal Neuralgia is in most cases found to be caused by compression by a blood vessel (vascular compression) of the root entry zone of the trigeminal nerve. Toxic, nutritive and infectious factors are believed to be possible sources of the disorder, but usually the exact cause is still unknown.
Affected Population
Trigeminal Neuralgia is found usually to affect older patients of both sexes.
Related Disorders
Glossopharyngeal Neuralgia is a rare syndrome that, like Trigeminal Neuralgia, has symptoms of excruciating facial pain. In this related disorder, however, pain tends to center around the throat, tonsils, the back of the tongue and the middle ear, originating usually at the base of the tongue. Glossopharyngeal Neuralgia affects men more prevalently than women, and usually appears after age 40. In differential diagnosis, Trigeminal Neuralgia may be ruled out by tactile stimulation of the throat resulting in an attack, which can then be ameliorated by application of the drug tetracaine in Glossopharyngeal Neuralgia.
Sphenopalatine Ganglion Neuralgia is another related disorder. Caused by an infection in the accessory nasal sinus, this disorder can be identified by its symptomatic pain in the face, eye, upper jaw, root of the nose, teeth, ear, neck and shoulder. Prognosis for this disease is generally quite favorable. A neoplasm, tumor or another lesion impinging on the nerve can also result in symptoms like those associated with Trigeminal Neuralgia. Pain in these cases, however, is usually persistent and results in sensory impairment.
Post-herpetic pain, occurring after a herpes virus infection, also may cause facial pains. This is caused by neural impairment, yet it is identifiable as such by the history of the appearance of a herpetic rash usually located near the eyes.
Multiple sclerosis, which in some cases actually causes Trigeminal Neuralgia, is usually distinguishable by its fluctuating neurological symptoms. (For more information on this disorder, choose "Multiple Sclerosis" as your search term in the Rare Disease Database.)
Therapies: Standard
Prognosis of Trigeminal Neuralgia is generally favorable, with both medical and surgical means of treatment. The drug carbamazine (Tegretol) is often an effective treatment for the disorder; administration of this drug should be accompanied by a monitoring of liver and hemapoietic (relating to formation of blood cells) functions. In some patients, phenytoin (Dilantin) has been found to an be effective treatment.
In terms of surgical treatments, the most widely used is the Jannetta procedure, which involves the removal of vascular structures pressing on the trigeminal ganglion. In another possible treatment, a percutaneous needle makes electrolytic lesions of the trigeminal ganglion. In cases of intractable pain, the 5th nerve fibers near the trigeminal ganglion are surgically sectioned.
Therapies: Investigational
Tinzanidine, used experimentally as a treatment in Trigeminal Neuralgia, has been designated an orphan drug and approved for study in the United States by the Food and Drug Administration (FDA). It should be remembered that although this orphan drug is available experimentally in the United States, it is still under study and conclusive results are not yet reported.
This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Trigeminal Neuralgia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Trigeminal Neuralgia Support Group
P.O. Box 785
Barnegat Light, NJ 08006
(609) 361-1014
NIH/National Institute of Dental Research
Clinical Pain Division
9000 Rockville Place
Bethesda, MD 20892
(301) 496-4261
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
References
Trigeminal Neuralgia: Treatment by Microvascular Decompression: PJ Jannetta; In: Neurosurgery; Wilkins et al., eds.: McGraw-Hill (1984).
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710: Triploid Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Triploid Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Triploidy Syndrome
Triploidy
Chromosome Triploidy Syndrome
Information on the following diseases can be found in the Related Disorders section of this report:
Trisomy
Down Syndrome
11q Syndrome
18p Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Triploid Syndrome is an extremely rare chromosomal disorder. A complete extra set of chromosomes totalling sixty-nine, rather than the normal forty-six, is found in the infant. Babies with Triploid Syndrome usually are lost through early miscarriage. However, some infants have been born and survived as long as five months. The infant shows severely retarded fetal growth and many other prenatal abnormalities.
Symptoms
Triploid Syndrome symptoms may include miscarried fetuses occuring early in pregnancy, larger than normal size placenta, lack of prenatal skeletal growth, wider than normally spaced eyes (ocular hypertelorism), low nasal bridge, low-set malformed ears and a smaller than normal sized jaw. The third and fourth fingers of the hands may be connected, and the hands may have unusual simian creases. The infant may show congenital heart defects and also defects of the sex organs (smaller than normal sized organs and urinary openings in abnormal locations). There may also be abnormal brain development and lack of development of both the adrenal glands and the kidneys. Less often there is an unusually shaped skull, cleft lip and/or palate, growth of the brain or spinal cord outside of the body (meningomyelocele), and hernias. There may also be liver and gallbladder deformities, twisted colon, and finger and toe deformities.
The Triploid Syndrome is often associated with pregnancies which occur soon after oral contraceptives are discontinued. The pregnant mother experiences extremes of high blood pressure (hypertension), swelling (edema), and excretion of albumin in the urine (albuminuria). This condition is called toxemia or preeclampsia. In several instances a triploid pregnancy has been followed or preceded by a cyst-like (molar) pregnancy.
Causes
Triploid Syndrome is caused by a complete extra set of chromosomes. The triplication of the chromosomes is most often caused by double fertilization of an egg rather than an egg with extra chromosomes. The disorder is not inherited; it is a birth defect.
Affected Population
Triploid Syndrome occurs in very rare instances, usually in pregnancies that occur after oral contraceptive use or after a miscarried molar pregnancy. The syndrome does not seem to be affected by the age of the parents. It affects male and female infants in equal numbers.
Related Disorders
Symptoms of the following disorders are caused by duplication, triplication or deletion of chromosomes:
Trisomies are very rare genetic disorders characterized by a triple chromosome. The most common symptom of the trisomies is mental retardation. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosomes for females. People with a Trisomy have an extra chromosome added to one of the normal pairs. The triplication of the chromosome may be partial, either an extra short arm (p+) or an extra long arm (q+). Defects are classified by the name of the abnormal chromosome pair and which portion of the chromosome is affected. (For more information on this disorder, choose "Trisomy" as your search term in the Rare Disease Database).
Down Syndrome is the most common and readily identifiable genetic condition caused by a chromosomal abnormality. One additional chromosome is present. Children with Down Syndrome have some degree of mental retardation. That can range from mild to profound. However, most children with Down Syndrome function in the mild to moderate range. Many of the children can be educated in the public schools, learn basic academic and pre-vocational skills with special training, and perform many daily living activities independently. (For more information on this disorder, choose "Down" as your search term in the Rare Disease Database).
11q Syndrome (Jacobsen Syndrome) is a rare genetic disorder affecting the long arm of chromosome 11. The disorder may be characterized by a narrow protruding forehead, eye problems, abnormally shaped nose and mouth and mental retardation. This syndrome is caused by a deletion on the long arm (q) of chromosome 11. The severity and type of abnormality depends upon the size and location of the missing chromosome piece. The cause of the chromosome break itself is unknown. (For more information on this disorder, choose "11q" as your search term in the Rare Disease Database).
18p Syndrome is a deletion of the short arm (p) of chromosome 18. It is characterized by unusual facial features and mild to severe mental retardation. This syndrome may also include growth deficiency, diminished muscle tension and a smaller than normal sized brain. There may also be behavior problems and delayed speech. (For more information on this disorder, choose "18p" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Triploid Syndrome is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Triploid Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Adrenal Diseases Foundation
505 Northern Blvd., Suite 200
Great Neck, NY 11021
(516) 487-4992
NIH/National Institute of Child Health and Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth Lyons Jones, M.D., W.B. Saunders Company, 1988. Pp. 32-35.
DIPLOSPERMY II INDICATED AS THE ORIGIN OF A LIVE BORN HUMAN TRIPLOID (69, XXX). B.M. Page, et al.; J Med Genet (October, 1981, issue 18 (5)). Pp. 386-389.
MORPHOLOGIC ANOMALIES IN TRIPLOID LIVEBORN FETUSES. N. Doshi, et al.; Hum Pathol, (August, 1983, issue 14 (4)). Pp. 716-723.
MIDTRIMESTER PREECLAMPTIC TOXEMIA IN TRIPLOID PREGNANCIES. R. Toaff, et al.; Isr J Med Sci, (March, 1976, issue 12 (3)). Pp. 234-239.
THE ORIGIN OF HUMAN TRIPLOIDS. P.A. Jacobs. et al.; Ann Hum Genet, (July, 1978, issue 42 (1)). Pp. 49-57.
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931: Trismus Pseudocamptodactyly Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Trismus Pseudocamptodactyly Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article.
Synonyms
Camptodactyly, Facultative Type
Camptodactyly-Limited Jaw Excursion
Camptodactyly-Trismus Syndrome
Hecht Syndrome
Mouth, Inability To Open Completely-Camptodactyly
Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons
Information on the following diseases can be found in the Related Disorders section of this report:
Camptodactyly
Gordon Syndrome
Spasmodic Torticollis
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Trismus Pseudocamptodactyly Syndrome is a rare disorder inherited as an autosomal dominant genetic trait. The major features of this disorder are an inability to open the mouth completely and a bending deformity of the fingers that occurs when extending the wrist backward. Abnormally short muscle tendons are the cause of these conditions.
Symptoms
Pseudocamptodactyly Syndrome is a rare disorder in which the patient is born with short muscle tendons that prevent normal growth and development. One of the major features of this disorder is a limited ability to open the mouth. This condition makes chewing difficult for some. The cause of the limitation in opening the mouth has not been determined and in some cases has been so subtle that it has gone unnoticed.
Short flexor tendons in the fingers is another feature of Trismus Pseudocamptodactyly Syndrome. This causes a condition in which the fingers bend toward the palm of the hand when the wrist is flexed backward.
Some patients with Trismus Pseudocamptodactyly Syndrome also have short flexor muscles of the feet. This can cause abnormalities such as: toes that turn downward (talipes equinovarus); inward curvature of the heel with the foot twisted in an abnormal position (metatarsus adductus); a flat arch of the foot (pes planus); an abnormality in which the front part of the foot is pointed in toward the middle of the body while the heel remains straight (metatarsus varus); and/or a condition in which the foot is flexed backward and turns outward (calcaneovalgus).
Other symptoms found in some patients with Trismus Pseudocamptodactyly Syndrome may be: short stature; a short muscle in the back of the leg (gastrocnemius); short muscles in the back of the thigh (hamstrings) causing a tilt of the pelvis; and/or mild spasms of the neck causing the head to tilt (spasmodic torticollis).
Causes
Trismus Pseudocamptodactyly Syndrome is inherited as an autosomal dominant genetic trait with a variance in the severity. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.
Affected Population
Trismus Pseudocamptodactyly Syndrome is a rare disorder that affects males and females in equal numbers. Many American cases of this disorder have been traced to a Dutch girl who migrated to Tennessee. Five cases in three generations of a Japanese family have also been reported. There have been over thirty-five cases of this disorder reported in the medical literature.
Related Disorders
Symptoms of the following disorders can be similar to those of Trismus Pseudocamptodactyly Syndrome. Comparisons may be useful for a differential diagnosis:
Camptodactyly is a rare disorder that may occur alone or be associated with a syndrome. When Camptodactyly occurs alone it is inherited as an autosomal dominant genetic trait. This disorder is characterized by fingers flexed towards the palm of the hand. Typically all the fingers are affected except the thumb. The toes may be affected in some cases. Camptodactyly affects males and females equally.
Gordon Syndrome is a rare disorder that belongs to a group of genetic musculoskeletal disorders called the Distal Arthrogryposes. This disorder is characterized by permanent flexion of one or more fingers (camptodactyly), a cleft palate, and clubfeet. Other developmental abnormalities may also occur. (For more information on this disorder, choose "Gordon Syndrome" as your search term in the Rare Disease Database).
Spasmodic Torticollis is a tonic or intermittent spasm of the neck muscles resulting in rotation and tilting of the head which is often painful. There are three different varieties of the disorder: tonic causing sustained turning of the head due to increased asymmetric muscle tone in one or more neck muscles; clonic which causes shaking movements of the head; and mixed tonic and clonic involving both kinds of movement. (For more information on this disorder choose "Spasmodic Torticollis as your search term in the Rare Disease Database).
Therapies: Standard
Patients with deformities of the foot will require orthopedic care. Physical Therapy may be of benefit to some patients.
Genetic counseling may be of benefit for patients and their families. Genetic testing of families (linkage analysis) has been performed to identify carriers of the gene. Other treatment is symptomatic and supportive.
Therapies: Investigational
Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future.
This disease entry is based upon medical information available through October 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Trismus Pseudocamptodactyly Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Box AMS
9000 Rockville Pike
Bethesda, MD 20892
(301) 495-4484
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp.724.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 190.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 257-58.
Mabry, et al.; J Pediatr (October, 1974, issue 85(4)). Pp. 503-8.
LINKAGE ANALYSIS WITH THE TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME: R.D.
Robertson, et al; Am J Med Genet (May, 1982, issue 12(1)). Pp. 155-20.
ORTHOPEDIC ASPECTS OF THE TRISMUS PSEUDOCAMPTODACTYLY SYNDROME. P.J.
O'Brien, et al.; J Pediatr Orthop (August, 1984, issue 4(4)). Pp. 469-71.
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429: Trisomy
_________________________
** IMPORTANT **
It is possible the main title of the article (Trisomy) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article.
Synonyms
Chromosomal Triplication
There are many different types of trisomies which are usually identified by numbers and letters. This entry contains information on the following specific trisomies:
Trisomy 6p, Partial
Trisomy 8
Trisomy 9p
Trisomy 10q
Trisomy 13 Syndrome (Patau's Syndrome)
Trisomy 18 Syndrome (Edward's Syndrome)
Trisomy 21 Syndrome (Down Syndrome)
Trisomy 22, Partial (Cat-Eye Syndrome)
General Discussion:
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Trisomies are very rare genetic disorders characterized by a chromosome aberration. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosomes for females. People with a Trisomy have an extra chromosome added to one of the normal pairs. Each chromosome has a short arm which is designated "p", and a long arm identified by the letter "q". The triplication of the chromosome may be partial; i.e. either an extra short arm or an extra long arm is present. Defects are classified by the name of the abnormal chromosome pair and which portion of the chromosome is affected. For example, 22p+ means that there is an extra short arm added to the 22nd pair of chromosomes.
In general, the most common symptom of the trisomies is mental retardation.
Symptoms
Trisomies are often characterized by mental retardation. Following is a description of a few trisomy disorders:
PARTIAL TRISOMY 6p: This disorder is characterized by a triplicated section of the short arm of the 6th chromosome. Mental retardation, multiple facial abnormalities as well as malformations of the lungs, kidney and the presence of two kidneys on one side of the body with crossed ureters may occur.
TRISOMY 8: Patients with this form of Trisomy are often slender and of normal height. The ears are low-set and malformed, and the eyes tend to be slanted down. Bone and joint abnormalities may involve the ribs, spine and kneecaps; joint contractures with poor range of motion are frequent. Unusually deep creases in the palms and the soles of the feet are evident. There is mild to moderate mental and motor retardation, often with delayed and hard to understand speech. Most of the patients are chromosomal mosaics, (i.e., they have two or more cell types that have different numbers of chromosomes).
TRISOMY 9p is identified by an extra short arm of the 9th chromosome. This disorder is characterized by abnormalities in the hands, feet, and pelvic bones. The pattern of bone structures in X-rays of patients with Trisomy 9p appears to be unique among patients with chromosomal abnormalities. Other symptoms include down-turned corners of the mouth, a large rounded nose, slightly wide and deep-set slanted eyes, unusual fingerprints and mental retardation.
TRISOMY 10q: This type of Trisomy is characterized by a triplication of part of the long arm of the 10th chromosome. The predominant symptoms of this disorder include a long head (dolichocephaly), prominent forehead, and abnormally open seams and soft spots (fontanelles) on the skull at birth. A broad nose, cleft lip and palate, clubfoot, and cysts in the kidney may also occur.
TRISOMY 13 SYNDROME (PATAU'S SYNDROME) is a genetic disorder which occurs in approximately 1 in 5,000 live births. It is characterized by midline abnormalities, gross defects of the brain, mental retardation, and cleft lip and/or cleft palate in most cases. (For more information on this disorder, choose "Trisomy 13" as your search term in the Rare Disease Database.)
TRISOMY 18 SYNDROME (EDWARDS' SYNDROME) is a genetic disorder with onset before birth. Paternal and maternal age are usually higher than average. Babies appear thin and frail. They fail to thrive and have difficulty feeding. These children show generalized increased muscle tension (hypertonicity) with rigidity in flexion of the limbs, and mental retardation. (For more information on this disorder, choose "Trisomy 18" in the Rare Disease Database.)
PARTIAL TRISOMY 22 (CAT-EYE SYNDROME) is characterized by a congenital absence or defect of certain eye tissue called coloboma, and the lack of an opening for the anus (atresia). Severe mental and physical retardation, wide-set slanted eyes, small skin appendages (tags) or openings to the inside of the mouth (fistulas) in front of the ears may develop. Congenital heart disease may also occur. Full trisomy has been reported in a few patients with similar symptoms, but a small jaw and low muscle tone (hypotonia) distinguishes them from the partial Trisomy.
TRISOMY 21, also known as DOWN SYNDROME is the most prevalent and readily identifiable genetic condition associated with mental retardation. The extra chromosome 21 changes the orderly development of body and brain. (For more information on this disorder, choose "Down" as your search term in the Rare Disease Database.)
Causes
The Trisomies are inborn abnormalities of the chromosomes. In some cases the chromosome abnormalities are related to advanced maternal or paternal age. Some genetic counselors suggest that pregnant women over the age of 35 should undergo amniocentesis to rule out these birth defects.
Affected Population
Most Trisomies are very rare disorders that affect patients from birth. Some Trisomies might affect a few hundred or a few thousand children per year; some may affect only a handful of children in the United States. The most common Trisomy is Down Syndrome (Trisomy 21 Syndrome) affecting approximately 7,000 newborn infants each year. (For more information, choose "Down Syndrome" as your search term in the Rare Disease Database.)
Related Disorders
There are many possible Trisomy disorders with a wide range of symptoms. There are many causes of mental retardation, most of which are genetic anomalies which are not trisomies.
Therapies: Standard
Children with mental retardation associated with Down Syndrome (Trisomy 21) usually benefit from early intervention programs and special education. Parent and infant education can begin immediately after birth. The individual child should receive direct service programming to develop learning, language, mobility, self-care and socialization skills. Toddler and preschool programs can further enhance the acquisition of skills to enable people with mental retardation to reach their maximum potential.
Genetic counseling will be helpful to families of patients with a Trisomy disorder. Women over the age of 35 who are planning to have children may wish to undergo amniocentesis since many trisomies can be detected before birth.
Therapies: Investigational
This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Trisomy, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Support Organization for Trisomy 18/13 (SOFT 18/13)
National Headquarters
4625 Lindell Blvd., Suite 501
St. Louis, MO 63108
(314) 367-0055
Trisomy 9p Support Group
160 Locket Rd.
Harrow Weald, Middlesex, Scotland, HA3 7NZ
Contact Group for Trisomy 9P
11 Durgoyne Drive
Bearsden
Glasgow, Scotland
S.O.F.T. Canada Inc.
1214 Concession 5 West
RR 2 Waterdown, Ontario LOR 2H2
(416) 659-3216
Association for Retarded Citizens of the U.S.
P.O. Box 6109
Arlington, TX 76005
(817) 640-0204
1-800-433-5255
National Down Syndrome Congress
1640 West Roosevelt Road
Chicago, IL 60608
(312) 226-0416
(800) 446-3835
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
RED BLOOD CELL GLUCOSE METABOLISM IN TRISOMY 10p: POSSIBLE ROLE OF HEXOKINASE IN THE ERYTHROCYTE: M. Magnani, et al.; Blood (May 1983: issue 61,5). Pp. 71-75.
TRISOMY 11p15 AND BECKWITH-WIEDEMANN SYNDROME. REPORT OF TWO NEW CASES: H. Journel, et al.; Annales Genet (Paris) (1985: issue 28,2). Pp. 97-101.
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986.
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218: Trisomy 13 Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Trisomy 13 Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Patau's Syndrome
Trisomy 13-15 Syndrome
D Trisomy Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Trisomy 13 Syndrome is a genetic disorder which occurs in approximately 1 in 5,000 live births. It is characterized by midline anomalies, gross defects of the brain, and cleft lip and/or cleft palate in most cases.
Symptoms
Infants affected with Trisomy 13 Syndrome tend to be small at birth. Spells of interrupted breathing (apnea) in early infancy are frequent, and mental retardation is usually severe. Many affected children appear to be deaf. A moderately small head (microcephaly) with sloping forehead, wide joints, and openings between the parietal bones of the head are present. Gross anatomic defects of the brain, especially failure of the forebrain to divide properly (holoprosencephaly), are common. A hernial protrusion of the cord and its meninges through a defect in the vertebral canal (myelomeningocele) is found in almost 50% of cases.
The entire eye is usually small (microphthalmia), and a defect of the iris tissue (coloboma), and faulty development of the retina (retinal dysplasia) occur frequently. The supraorbital ridges are shallow and palpebral fissures are usually slanted. Cleft lip, cleft palate, or both are present in most cases. The ears are abnormally shaped and unusually low-set.
A single transverse crease on the palm, extra fingers and toes (polydactyly), and hyperconvex narrow fingernails are common. The fingers tend to be flexed, but not in the characteristic manner seen in Trisomy 18 Syndrome. The feet show posterior prominence of the heel, and there may be a rocker-bottom foot.
Approximately 80% of cases show the following additional congenital anomalies:
1. An opening in the ventricular septum of the heart (ventricular septal defect)
2. Persistent blood vessel connecting the aorta to the pulmonary artery (patent ductus arteriosus)
3. An opening in the septum between the two atria in the heart (atrial septal defect)
4. Abnormalities in the pulmonary and/or aortic valves.
(For more information on specific heart anomalies, see articles in the Rare Disease Database.)
Location of the heart in the right side of the chest (dextrocardia) is common as well.
Tumors made up of newly formed capillary blood vessels (capillary hemangiomas), especially on the forehead in the midline, may also be present. Other midline defects include dermal sinuses on the scalp and loose folds of skin over the back of the neck.
The genitalia are frequently abnormal in both sexes. Failure of the testes to descend into the scrotum (cryptorchidism) and abnormally developed scrotum may occur in males. A uterus with horn-shaped branches (bicornuate) sometimes occurs in females.
Hematologically, there is an increased frequency of nuclear projections in polymorphonuclear leukocytes and a persistence of fetal hemoglobin.
Causes
An additional chromosome 13 causes the abnormalities of this genetic, developmental disorder, Trisomy 13 Syndrome.
Affected Population
Trisomy 13 Syndrome occurs in one in 5,000 live births. Males and females of all nationalities and races are affected equally.
Therapies: Standard
Treatment for Trisomy 13 Syndrome is symptomatic and supportive. Special education, physical therapy and other medical, social, or vocational services are of benefit to the patient, and are often necessary for the child to reach his/her full potential.
Therapies: Investigational
This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Trisomy 13 Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Support Organization for Trisomy 18/13 (SOFT 18/13)
National Headquarters
4625 Lindell Blvd., Suite 501
St. Louis, MO 63108
(314) 367-0055
S.O.F.T. Canada Inc.
1214 Concession 5 West
RR2 Waterdown, Ontario LOR 2H2
(416) 659-3216
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
Association for Retarded Citizens of the U.S.
P.O. Box 6109
Arlington, TX 76005
(817) 640-0204
(800) 433-5255
Mental Retardation Association of America
211 East 300 South, Suite 212
Salt Lake City, UT 84111
(801) 328-1575
In Touch
10 Norman Road
Sale, Cheshire
M33 3DF
Hants, England
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 20-5.
Trisomy 13 Syndrome
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218: Trisomy 13 Syndrome
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Copyright (C) 1986, 1992 National Organization for Rare Disorders, Inc.
217: Trisomy 18 Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the Article (Trisomy 18 Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Trisomy 18
Edward's Syndrome
Trisomy E
Trisomy 16-18
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Trisomy 18 Syndrome is a genetic disorder with onset before birth. Paternal and maternal age are usually above average. Babies appear thin and frail. They fail to thrive and have difficulty feeding. These children show generalized increased muscle tension (hypertonicity) with rigidity in flexion of the limbs and mental retardation.
Symptoms
The newborn infant with Trisomy 18 is premature or small for its gestational age, with markedly retarded development (hypoplasia) of skeletal muscle and subcutaneous fat. The baby's cry is weak, and response to sound is decreased. There is often a history of feeble fetal activity, excess of fluid in the fetal sac, a small placenta, and a single umbilical artery.
The back part of the head is prominent; there is a narrow bifrontal diameter with decreased orbital ridges, short eyelid fissures, a small mouth and unusually small jaw, all of which give the face a pinched appearance. A small head (microcephaly), fold of the eyelid in the lateral corner of the eye (epicanthal folds), low-set malformed ears, and cleft lip and/or palate are common. The peculiar clenched fist with the index finger overlapping the 3rd and 4th fingers is almost distinctive of this disorder. Absence of the distal crease on the 5th finger is common as is a low-arch dermal ridge pattern on the fingertips. The nails are underdeveloped and the big toe is shortened and frequently bent backward (dorsiflexed). Underdeveloped or absent thumbs, clubfeet, rocker-bottom feet, and webbed fingers and toes (syndactyly) may also occur.
An opening in the ventricular septum of the heart (ventricular septal defect), persistent blood vessel connecting the aorta to the pulmonary artery (patent ductus arteriosus), an opening in the septum between the two atria in the heart (atrial septal defect), and abnormalities in the pulmonary and/or aortic valves may be present. (For more information on these defects, please see the articles in the Rare Disease Database.)
Congenital anomalies of the lung, diaphragm, kidneys and ureters are frequent. Hernias and/or separation of the rectus muscles of the abdominal wall, redundant skin folds especially over the back of the neck, and, in males, failure of the testes to descend into the scrotum are also common. Mental retardation in Trisomy 18 Syndrome is usually severe.
Causes
Trisomy 18 Syndrome is caused by the presence of a third chromosome 18. This chromosome is responsible for the physical and mental abnormalities of this developmental disorder.
Affected Population
Female infants are affected 3 times greater than male infants with Trisomy 18 Syndrome. Children with this disorder are generally born to older parents.
Therapies: Standard
Treatment of Trisomy 18 Syndrome is symptomatic and supportive. Special education, physical therapy, and other medical, social, or vocational services are of benefit to the patient, and are often necessary for the child to reach his/her full potential.
Therapies: Investigational
This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Trisomy 18 Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Support Organization for Trisomy 18/13 (SOFT 18/13)
National Headquarters
4625 Lindell Blvd., Suite 501
St. Louis, MO 63108
(314) 367-0055
S.O.F.T. Canada Inc.
1214 Concession 5 West
RR2 Waterdown, Ontario LOR 2H2
(416) 659-3216
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20205
(301) 496-5133
Association for Retarded Citizens of the U.S.
P.O. Box 6109
Arlington, TX 76005
(817) 640-0204
(800) 433-5252
Mental Retardation Association of America
211 East 300 South, Suite 212
Salt Lake City, UT 84111
(801) 328-1575
In Touch
10 Norman Road
Sale, Cheshire
M33 3DF
Hants, England
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 16-9.
Trisomy 18 Syndrome
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217: Trisomy 18 Syndrome
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Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc.
89: Tropical Sprue
_________________________
** IMPORTANT **
It is possible that the main title of the article (Tropical Sprue) is not the name you expected. Please check the SYNONYM listing to find alternate names and disorder subdivisions covered by the article.
Synonyms
Hill Diarrhea
Tropical Diarrhea
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Malabsorption, multiple nutritional deficiencies, and abnormalities in the small bowel mucosa are the chief characteristics in Tropical Sprue, a disorder of unknown cause. The disease is acquired and appears to be related to environmental and nutritional conditions. It is most prevalent in the Caribbean, south India, and southeast Asia.
Symptoms
Symptoms of Tropical Sprue may include fatigue, diarrhea with stools that are copious, pale and malodorous, anorexia, loss of weight, asthenia (loss of strength and energy) and general weakness.
The onset of the disorder may be acute. There may be fever and an inflammation of the mouth and tongue. The skin may be dry and there may be scaling apparent on the lips and at the angles of the mouth. Some patients may experience mental depression.
Some patients experience spontaneous remission. Treatment of the disorder in its early stages may result in rapid and complete recovery. The restoration of normal intestinal structure and function may be slower if treatment is begun later in the course of the disease. Tropical Sprue may become chronic with frequent relapses.
Malabsorption of fats and xylose, reduction in the absorption of iron, vitamin B12, and folate, and megaloblastic anemia are common findings.
Causes
Tropical Sprue is a disease of unknown cause. It is an acquired disorder which appears to be related to environmental and nutritional conditions. The disease may be related to an infectious organism (either viral or bacterial), dietary toxin, parasitic infestation, or a nutritional deficiency such as folic acid. Damage to intestinal mucosa which results in an impairment of the absorption of foods, minerals, and water may be produced by these agents.
Affected Population
Tropical Sprue occurs chiefly in the Caribbean area, south India, and southeast Asia. Both residents of the area and visitors can be affected.
Therapies: Standard
Treatment for Tropical Sprue includes the use of folic acid and tetracycline or oxytetracycline or ampicillin. The dosage depends on the severity of the disorder as well as how the patient responds to the therapy. Other replacement therapy is given as needed (e.g., iron, vitamin B12). Diarrhea may be controlled with Lomotil or Imodium.
Therapies: Investigational
This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tropical Sprue, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Digestive Diseases Information Clearinghouse
Box NDIC
Bethesda, MD 20892
(301) 468-2162
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
(404) 639-3534
References
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 743.
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 794.
Tropical Sprue=
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Copyright (C) 1986 National Organization for Rare Disorders, Inc.
180: Truncus Arteriosus, Persistent
_________________________
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
The truncus arteriosus is a fetal structure which gives rise to the two large arteries emerging from the heart, the aorta and the pulmonary artery. When the truncus arteriosus persists beyond the fetal stage, blood from both ventricles mixes and enters the pulmonary, coronary (serving the heart muscle), and systemic (serving all the organs except the lungs and heart) circulation. Because not all the blood flowing to the body has passed through the lungs to absorb oxygen, the tissues receive less oxygen than they should. In addition, the pulmonary vasculature is eventually damaged by the abnormally high blood pressures in the lungs. Persistent Truncus Arteriosus is a serious congenital heart defect, and is always accompanied by a ventricular septal defect (i.e., a hole in the wall separating the right and left ventricles). The condition is often fatal during infancy.
Symptoms
The symptoms of Persistent Truncus Arteriosus resemble those of a severe ventricular septal defect. They consist of congestive heart failure, cyanosis (a bluish tint to the flesh due to insufficient oxygen supply), an enlarged heart, and gradual destruction of the blood vessels of the lungs due to high pulmonary blood pressure. Infants feed poorly and fail to grow and develop normally.
Characteristic heart sounds, electrocardiographic findings, and blood pressure abnormalities help in making the diagnosis.
Causes
The arrest or abnormality in embryonic development leading to congenital heart defects such as Persistent Truncus Arteriosus may result from various factors. These may include maternal rubella (measles), excessive alcohol consumption, or diabetes; heredity may also play a role in some cases.
Related Disorders
Various congenital heart defects are discussed in the Rare Disease Database. Please note that Pseudotruncus Arteriosus is a synonym for Tetralogy of Fallot, a different heart defect. (For more information on this disorder, choose "Tetralogy of Fallot" as your search term in the Rare Disease Database.)
Therapies: Standard
Medical measures to avert heart failure are fairly standard, and are of limited value in Persistent Truncus Arteriosus. Surgery may be possible in some cases.
Therapies: Investigational
This disease entry is based upon medical information available through May 1990 . Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Persistent Truncus Arteriosus, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
American Heart Association
7320 Greenville Ave.
Dallas, TX 75231
(214) 750-5300
NIH/National Heart, Lung and Blood Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
THE CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden and Lloyd H. Smith, Jr., Eds.; W.B. Saunders Co., 1988. Pp. 308.
Truncus Arteriosus, Persistent
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6Copyright (C) 1987, 1988, 1989, 1991, 1992, 1993 National Organization for Rare Disorders, Inc.
361: Tuberculosis
_________________________
** IMPORTANT **
It is possible the main title of the article (Tuberculosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
TB
Consumption
Information on the following diseases can be found in the Related Disorders section of this report:
AIDS
Childhood Tuberculosis, also known as Primary TB
Cutis Colliquativa Tuberculosis, also known as Tuberculous Gumma
Disseminated Hematogenous Tuberculosis, also known as Miliary TB
Tuberculosis Lichenoides, also known as Lichen Scrofulosorum
Lymph Node Tuberculosis
Papulonecrotic Tuberculosis
Pulmonary Tuberculosis
Pulmonary Atypical Tuberculosis
Tuberculous Arthritis
Tuberculosis of the Spine, also known as Pott Disease
Pleural Tuberculosis
Tuberculosis Peritonitis
Tuberculous Meningitis
Tuberculous Pericarditis
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tuberculosis (TB) is an acute or chronic bacterial infection found most commonly in the lungs. The infection is spread like a cold, mainly through airborne droplets breathed into the air by a person infected with TB. The bacteria causes formation of small tissue masses called tubercles. In the lungs these tubercles produce breathing impairment, coughing and release of sputum. TB may recur after long periods of inactivity (latency) if not treated adequately. Many variations of TB exist and are distinguished by the area of the body affected, degree of severity and affected population. This disease today is considered curable and preventable. It is very rare in the United States but is on an upsurge.
Symptoms
Tuberculosis most commonly affects the lungs, producing breathing difficulties. It may also affect the kidneys, bones, lymph nodes, and membranes surrounding the brain. In some cases, it can spread throughout the body. In the initial stages patients may experience fever, loss of appetite, weight loss, weakness, and sometimes a dry cough.
In the later stages of lung involvement, blood may appear in the sputum. Bleeding in the lungs may occur if an artery or tubercle (small tissue mass produced by the infection) ruptures. The patient can die of this infection if left untreated.
Causes
Tuberculosis is a bacterial infection usually caused by either Mycobacterium tuberculosis or Mycobacterium bovis. The Mycobacterium tuberculosis is the most common source of infection and is spread by airborne droplets breathed or coughed into the air by a person infected with active TB. In the past the disorder was caused in most cases by Mycobacterium bovis, a bacteria which was passed to humans through dairy products. Today, dairy and cattle are carefully inspected and tested for this type of TB, and infected products are not sold to the public in the United States. However, in less developed countries the TB infection is still passed to humans through dairy products.
Affected Population
In 1944, the Public Health Service launched a TB control program when the yearly number of cases in the United States averaged 126,000. In 1985, the number of cases had dropped to 22,201. However, health officials warn that TB is still a serious health problem, due in part to the rise of AIDS cases and the lowered resistance of AIDS patients to the TB infection. There are still approximately 2,000 deaths annually from TB in the United States which is more than all other infectious diseases excluding pneumonia and influenza.
Areas with the highest incidence of AIDS victims such as New York City, California, Florida, and Texas are also the areas with the highest incidence of TB. TB may prove to be the first "opportunistic infection" related to AIDS with potential threat to the general public. An opportunistic infection is one that takes hold because the patient's immune system is weakened. (For more information on these disorders, choose "AIDS" and "Opportunistic Infection" as your search terms in the Rare Disease Database, and also see the AIDS Update area of NORD Services.) Recently, the southeast area of the United States and states bordering Mexico reported the highest Tuberculosis (TB) cases. Additionally, the recent influx of Southeast Asians, who have a high incidence of TB, now constitutes three to five percent of new cases in the U.S.
Worldwide, TB is a major health problem with as many as four million new cases and three million deaths each year. The impact of TB is felt most by older and poorer people. Cases usually occur in individuals who were infected years ago, particularly the elderly. Many of these people grew up in the first decades of the century when eighty percent of the population had been infected (though not necessarily afflicted with an active case of TB) by the time they were thirty. The Centers for Disease Control (CDC) in Atlanta, GA currently estimates that ten million people worldwide have been infected by the tubercle bacillus, carrying a small but lifelong risk of developing active TB.
There were 1,200 American children diagnosed with TB during 1984, leading to the conclusion that TB is still being spread by people with active infections. Every year thousands more children are apparently infected, but do not get the active disease, adding to the pool of those at risk of developing active TB in the future.
Since 1984 the incidence of TB has been on the rise, especially in the elderly. Over 22,000 cases have been reported each year with over a third of the cases in individuals over sixty years of age. The elderly are susceptible to TB in two different ways: dormant germs from old infections becoming active again and new exposure at a time of life when immune defense is lower than in youth. In 1991, 25,709 cases were reported, a 9.4 perceny increase since 1989. Cases in children are also increasing.
Other persons with suppressed immune systems, such as AIDS patients and persons taking drugs to suppress the body's immune response to transplants, are also at increased risk from exposure to TB.
Related Disorders
AIDS (Acquired Immune Deficiency Syndrome) involves progressive deterioration of the body's ability to ward off infection. Organisms which in a healthy person would either fail to cause disease, cause mild disease, or at least provoke immunity, can completely overwhelm the AIDS patient. Patients with AIDS can contract various life-threatening infections such as pneumocystis carinii pneumonia and Tuberculosis (TB). Additionally, they may develop a rare type of cancer called Kaposi's Sarcoma.
Following is a list of the various subtypes of Tuberculosis:
1. Childhood Tuberculosis (TB, primary) involves first-time infection of TB.
2. Cutis Colliquativa Tuberculosis (Gumma, tuberculous) is a childhood type of TB involving lesions on the back and legs.
3. Disseminated Hematogenous Tuberculosis (TB, Miliary) is a serious form of TB with a sudden onset occurring mostly during early childhood. Many areas of the body are involved.
4. Tuberculosis Lichenoides (Lichen Scrofulosorum) occurs in children with a high immunity to TB. It is marked by red skin areas appearing chiefly on the trunk.
5. Lymph node Tuberculosis is an adult form of TB involving the lymph nodes. This disorder is marked by swelling and fever.
6. Papulonecrotic Tuberculosis occurs in adults. This form of TB involves the face, arms, legs, and trunk. Ulceration of the skin occurs causing small scars. This form of TB is likely to recur.
7. Pulmonary Tuberculosis is usually an active flare-up of some type of childhood TB affecting the lungs.
8. Pulmonary Atypical Tuberculosis is a type of TB caused by certain rarely seen Mycobacteria. This type of TB could extend to organs other than the lungs.
9. Tuberculous Arthritis involves the lungs initially then can spread to bones and joints and may be related to various other diseases including prior joint trauma, alcoholism, diabetes mellitus and chronic debilitating states that possibly predispose to activation of disease.
10. Tuberculosis of the Spine (Pott Disease) begins gradually and involves pain in the spinal nerve root and weight loss. More serious cases may cause paralysis.
11. Tuberculous Meningitis involves the central nervous system and is usually found in children aged one to five years although it may occur at any age. Headache and behavioral changes may be noticed initially. Later symptoms may include convulsive disorders, communicating hydrocephalus (accumulation of fluid in the brain cavity), mental retardation, and other neurological abnormalities.
12. Pleural Tuberculosis can occur in at least two forms usually in conjunction with Pulmonary TB. Surgical drainage may be required as well antituberculous treatment.
13. Genitourinary Tuberculosis (Tuberculous Pyelonephritis) is characterized by an initial lack of typical TB symptoms. When long established, this disorder may spread from the kidneys to the ureters, bladder, seminal vesicles, and prostate.
14. Tuberculous Peritonitis may spread from the lymph nodes, gastrointestinal tract or uterine tube and ovary to surrounding areas. Local tenderness and signs of infection are symptomatic of this type of TB.
15. Tuberculous Pericarditis is usually due to spread from infected mediastinal nodes (separating the lungs) and affects the membrane around the heart. Surgery may be necessary in the more serious cases of this type of TB.
16. Silicotuberculosis results from exposure to silicon dust.
Therapies: Standard
Continued testing of dairy herds as preventive therapy remains essential to the control of Tuberculosis. A tuberculin skin test, required for school-age children in the United States, is also extremely useful in identifying unsuspected cases of TB. Vaccination with BCG (a weakened strain of Mycobacterium tuberculosis) is useful in many parts of the world where the incidence of TB is high. However, this vaccine is used rarely in the United States. Antibiotic therapy with careful monitoring by a physician is necessary for cases of active tuberculosis. Hospitalizing or isolating a patient under treatment, as was done in the past, is usually no longer necessary to prevent the spread of TB. Hospitalization may be useful now in some cases for treating disabling symptoms or complications. Ten to fourteen days of antibiotic treatment is usually necessary before patients become noninfectious.
The combined use of rifampin (RIF) and isoniazed (INH) for nine months is the current treatment of choice in cases of TB.
Surgical treatment of some skin manifestations of TB may be of limited usefulness. Corticosteroid therapy (in conjunction with antibiotics) may be advantageous in some recurrent or very persistent cases, or in some cases that overlap with other diseases.
Therapies: Investigational
New methods of preventing Tuberculosis, and preventing the spread of existing cases of this disorder are under current investigation.
The FDA has approved the following drug for testing as treatment for Tubuerculosis patients:
The orphan drug Rifater (rifampin, isoniazid, pyrazinamide) is being tested for short-course treatment of Tuberculosis. The drug is manufactured by Marion Merrell Dow, Kansas City, MO.
For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database.
The orphan product Para-Aminosalicylic acid is being developed for the treatment of Tuberculosis infections. It is sponsored by the Jacobus Pharmaceutical Company of Princeton, NJ. The clinical trials are now underway.
The drug Thalidomide is being tested in the treatment of clinical manisfestations of mycobacterial infection caused by mycobacterial Tuberculosis and non-tuberculosis mycobacteria. The drug is sponsored by Celgene Corp., 7 Powder Horn Dr., Warren, NJ, 07059.
The orphan product, gabbromicina, is being developed by the University of Illinois at Chicago for the treatment of Tuberculosis.
This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tuberculosis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
American Lung Association
1740 Broadway
New York, NY 10019
(212) 315-8700
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
(404) 639-3534
References
CURABLE, PREVENTABLE, BUT STILL A KILLER: TUBERCULOSIS: Annabel Hecht; FDA Consumer (Dec. 1986-Jan. 1987 issue). Pp. 7-10.
Tuberculosis
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`(G(Copyright (C) 1984, 1985, 1987, 1988, 1989, 1990, 1992 National Organization for Rare Disorders, Inc.
35: Tuberous Sclerosis
_________________________
** IMPORTANT **
It is possible that the main title of the article (Tuberous Sclerosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article.
Synonyms
Bourneville Pringle Syndrome
Epiloia
Phakomatosis
TS
Tuberose Sclerosis
Tuberous Sclerosis-1
TSC1
Information on the following diseases can be found in the Related Disorders section of this report:
Sturge-Walker Syndrome
Hypomelanosis of Ito
Epidermal Nevus Syndrome
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tuberous Sclerosis is a rare neurological disorder characterized by seizures, mental retardation, developmental delay, and skin and eye (ocular) lesions. Patients may experience a few or all of the symptoms with varying degrees of severity.
Symptoms
The first symptoms of Tuberous Sclerosis occur during infancy or early childhood. Approximately 90 percent of patients have seizures as their first symptom. These episodes of seizures may include muscle spasms (myoclonic jerks). Brain wave abnormalities can be detected with an electroencephalograph (hypsarrhythmia). Two-thirds of patients with Tuberous Sclerosis are mildly or severely mentally retarded.
Benign brain tumors may be detected with computerized tomography (CT scans), even in the developing fetus.
Between 60 and 90 percent of infants with Tuberous Sclerosis have white patches or spots (hypomelanotic macules) on their skin at birth. The characteristic tumors of this disorder (adenoma sebaceum) appear between the ages of 3 and 5 years. The tumors generally become more numerous during puberty. Collagen (a white glistening protein) may accumulate in the skin of the lower back and back of the neck. This may appear as elevated, yellowish-brown patches with the texture of an orange peel. Small benign tumors (fibromas) may develop around or under the fingernails and the nail beds (periungual or subungual). Brown spots (cafe-au-lait macules) and soft saclike growths (cutaneous nodules) may appear on the skin. About 90 percent of patients develop tumors in the retina of the eyes (astrocytic hamartomas) or tumor-like nodules in the brain as well as the skin and eyes (phakomas).
Delayed speech, slow motor development, and learning disabilities may be associated with Tuberous Sclerosis. Typical behavior patterns include symptoms resembling childhood autism; episodes of screaming, crying, or rage; and catatonic rigidity.
Causes
Tuberous Sclerosis is believed to be inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.
The gene that causes this disorder has been located to the long arm of chromosome 9.
When patients are affected less severely, the cause is thought to be an unusual, spontaneous genetic change or mutation that is not inherited.
Affected Population
Tuberous Sclerosis occurs in approximately 1 in 20,000 live births and affects an estimated 10,000 individuals in the United States. Males and females are affected equally.
Related Disorders
Symptoms of the following disorders can be similar to those of Tuberous Sclerosis. Comparisons may be useful for a differential diagnosis:
Sturge-Walker Syndrome is a rare disorder that is apparent at birth. This disorder is characterized by three major symptoms; excessive blood vessel growth within the membranes that surround the spinal cord (leptomenigal angiomas); seizures; and accumulation of excessive calcium within the brain. Generally there is a large birth mark (port wine stain or nevus flammeus) on one side of the face. The seizures that are common with this disorder generally increase in frequency as the patient gets older. Over half of the children with Sturge-Walker Syndrome experience some degree of mental retardation. (For more information on this disorder, choose "Sturge-Walker" as your search term in the Rare Disease Database).
Hypomelanosis of Ito is a rare disorder that is characterized by an unusual lack of skin color (hypopigmentation) affecting many areas of the body. Other symptoms may include mental retardation, seizures, inability to sweat in the areas that lack pigmentation, crossed eyes (strabismus), nearsightedness and a cleft along the edge of the eyeball (coloboma). (For more information on this disorder, choose "Hypomelanosis of Ito" as your search term in the Rare Disease Database).
Epidermal Nevus Syndrome is a rare disorder characterized by distinctive birth marks (nevus) on the skin. Neurological and skeletal abnormalities may also occur. This disorder is usually apparent at birth and the skin lesions are most often seen in the mid-face from the forehead down into the nasal area. Epidermal Nevus Syndrome is often associated with seizures, mental deficiency, eye problems, bone malformations and atrophy of the brain. (For more information on this disorder, choose "Epidermal Nevus" as your search term in the Rare Disease Database).
Therapies: Standard
The treatment for Tuberous Sclerosis is supportive and symptomatic. Treatment may include the administration of anticonvulsant drugs to control seizures. Facial tumors (angiofibromas) may be removed using a skin scraping technique known as derabrasion or with laser treatments. Surgery may become necessary for certain rapidly growing tumors that might interfere with normal function. Special education and related services will be helpful for those children who are mentally retarded.
Conventional anticonvulsants that may be administered include phenobarbital, phenytoin (Dilantin), clonazepam (Clonopin), valproic acid (Depakene), carbamazepine (Tegretol), ethosuximide (Zarontin), or acetazolamide (Diamox). All these anticonvulsants have potential side effects and require careful monitoring by a physician.
Certain immunizations, such as DPT and Rubella, can prompt seizures in children with Tuberous Sclerosis. "Infantile spasms" can be treated in some infants by the use of prednisone or ACTH (adrenocorticotropic hormone). These medications are used cautiously because of their side effects.
The obstruction of cerebrospinal fluid (CSF) circulation inside the brain (intracranial hypertension) because of a benign tumor may require a shunting procedure to drain the liquid or the surgical removal of the tumor. A benign tumor inside the heart (rhabdomyoma) may not cause symptoms and not require treatment. Large cystic lesions of the kidneys may also require surgical decompression or removal, possibly leading to loss of a kidney. If large groups of enlarged blood vessels (angiolipomas) bleed in the lining of the abdominal cavity (peritoneum), emergency treatment for shock may be necessary.
Genetic counseling will be of benefit for patients and their families.
Therapies: Investigational
Investigations into the cause and possible treatments for Tuberous Sclerosis are ongoing. Blood and skin cells of Tuberous Sclerosis patients have been banked at the Camden Cell Repository in New Jersey and are available to researchers around the world. Scientists are trying to develop prenatal tests and diagnostic blood tests for Tuberous Sclerosis.
This disease entry is based upon medical information available through October 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tuberous Sclerosis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Tuberous Sclerosis Association, Inc.
8000 Corporate Drive, #120
Landover, MD 20785
(301) 459-9888
(800) 225-NTSA
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
For information about seizures:
Epilepsy Foundation of America
1828 "L" Street N.W.
Washington, D.C. 20036
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1630, 2111.
MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1116-1118.
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2144.
CLINICAL DERMATOLOGY, 2nd Ed.; Thomas P. Habif, M.D., Editor: The C.V. Mosby Company, 1990. Pp. 654-655.
DISORDERS OF HYPOPIGMENTATION IN CHILDREN, F.J. Pinto; Pediatr Clin North Am (August 1991; 38(3)): Pp. 991-1017.
NEUROCUTANEOUS SYNDROMES, E.S. Roach; Pediatr Clin North Am (August 1992; 39(4)); Pp. 591-6202.91-6202.
Tuberous Sclerosisa)
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!Copyright (C) 1986, 1987, 1988, 1989, 1991, 1992, 1993 National Organization for Rare Disorders, Inc.
112: Turner Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Turner Syndrome) is not the name you expected. Please check the SYNONYM listing to find the synonyms, disorder subdivisions, and related disorders covered by this article.
Synonyms
Bonnevie-Ulrich syndrome
Ovarian Dwarfism
Ovary Dysgenesis
Ovary Aplasia
Genital Dwarfism
Gonadal Dysgenesis (XO)
Monosomy X
Morgagni-Turner-Albright Syndrome
Pterygolymphangiectasia
Schereshevkii-Turner Syndrome
Turner-Varny Syndrome
XO syndrome
Information on the following disorders can be found in the Related Disorders section of this report:
Noonan Syndrome (in males)
Pseudo Turner Syndrome (in males)
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section.
Turner syndrome is a genetic disorder affecting females which is characterized by lack of sexual development, small stature, possible mental retardation, a webbed neck, heart defects, and various other congenital abnormalities. Individuals have an XO karyotype, i.e., they have neither the second X chromosome that characterizes females nor the Y chromosome of males. Despite the unusual genetic karyotype, people with Turner Syndrome are females.
Symptoms
Individuals with Turner syndrome have female characteristics, but they do not develop secondary sexual characteristics because they have immature or "streak" ovaries and cannot produce estrogen (a female hormone). No puberty occurs, and sexual traits such as breasts or pubic and axillary hair fail to develop.
Growth is slowed and the individual remains unusually short, often under 5 feet tall at adulthood. Intelligence is only rarely impaired. There may be behavioral difficulties, but it is not known whether these are consequences of living with this disorder or neurological manifestations.
Congenital abnormalities of the skeleton, heart, and urinary tract can occur. The neck is webbed and the chest may be broad or protruding. The jaw may have an unusual shape, and the palate may be arched. Typical heart defects may include coarctation of the aorta and other anomalies of the left side of the heart. Urinary tract abnormalities may include a horseshoe shaped kidney and double ureters.
Cells of individuals with Turner syndrome usually have only 45 chromosomes (rather than the normal 46), lacking a sex chromosome as described above. Occasionally, the defect is found only in one cell line (mosaicism), or the chromosome is present but defective.
Causes
Turner Syndrome is a genetic disorder caused by an absence or defect of the sex chromosome. Karyotype (chromosomal constitution of the nucleus of a cell) is XO in 80% of the cases, lacking one of the sex chromosomes. In 20% of the cases, sex chromatin is positive for various chromosomal abnormalities such as XX (one chromosome is abnormal) or XO (one chromosome is absent), or other abnormal chromosome combinations.
Affected Population
Turner Syndrome affects only females. In the United States, the number of persons with this disorder is approximately 45,000.
Related Disorders
Noonan Syndrome is a genetic disorder that can affect both males and females. The disorder is characterized by a lack of sexual development, short stature, mental retardation, a webbed neck, skeletal and/or heart defects, and various other abnormalities. Persons with Noonan Syndrome usually have normal chromosomes (karyotype is normal), while their physical appearance (phenotype) is different from their peers. (For more information on this disorder, choose, "Noonan" as your search term in the Rare Disease Database.)
Therapies: Standard
There is no cure for Turner Syndrome, but certain measures can allow a more normal life in affected persons. To increase stature (i.e., for normal linear growth and maturation of the bones), estradiol therapy started early in life has been found useful. Genetically engineered growth hormone has proven helpful in many cases. At puberty, replacement therapy with estrogen may begin. This allows almost normal development of breasts, labia, vagina, uterus and fallopian tubes, although patients remain unable to conceive children.
Patients who are mosaics (i.e., only some of whose cells have abnormal sex chromosomes) appear to be susceptible to gonadal tumors. Such patients, who are likely to have evidence of virilization, may have "streak gonads" which are undeveloped gonads in the ligaments of the abdominal cavity. These should be removed.
Therapies: Investigational
The National Institutes of Health requests the cooperation of physicians in referring patients with Turner Syndrome, age 4 to 12 years. Patients will be offered enrollment in a long-term treatment protocol to assess the effect of low-dose estrogen treatment and growth hormone treatment on adult height. Low-dose estrogen is intended to help stimulate gradual development of secondary sexual characteristics without compromising growth potential Referring physicians will receive a complete summary of all evaluations, and patients will continue to be followed in conjunction with their referring physicians. Please write or telephone:
Dr. Gordon B. Cutler Jr.
National Institutes of Health
9000 Rockville Pike
Bldg. 10, Rm. 10N260
Bethesda, MD 20892
(301) 496-4686
or
Dr. Judith Levine Ross
Hahnemann University
Mail Stop 402
Broad & Vine Streets
Philadelphia, PA 19102
(215) 448-7710
Ethinyl Estradiol product EE which is manufactured by Gynex increases secondary sexual characteristics in Turner's patients without causing bone growth problems. Further studies are necessary to determine the long-term safety and effectiveness of this product.
Oxandrolone (Oxandrin) is an experimental drug being tested on girls with Turner Syndrome to increase their growth. This drug has several advantages over human growth hormone (hGH) because (1) Oxandrin is an oral drug whereas hGH is an injection (2) hGH costs $10,000 to $30,000 per year whereas Oxadrin is expected to cost less than $2,000 per year. Oxandrin is available from Gynex Pharmaceuticals under a "Treatment IND" which is special permission from the FDA to distribute an investigational drug to a large number of people who are not in a clinical trial.
This disease entry is based upon medical information available through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Turner Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Turner's Syndrome Support Group of New England
170 Maple Street
Malden, MA 02148
Turner's Syndrome Society of the United States
3539 Tonkawood Road
Minnetonka, MN 55345
(612) 475-9944
Turner Syndrome Society
Administrative Studies Bldg. 006
4700 Keel Street
York University
Downsview, Ontario, Canada
M3J 1P3 .BR; (416) 736-5023
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 167-70, 1392.
SMITH'S RECOGNIZABLE PATTERS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 75-9.p. 75-9.
Turner Syndrome
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a Copyright (C) 1989, 1990 International Organization for Rare Disorders, Inc.
730: Typhoid
_________________________
** IMPORTANT **
It is possible that the main title of the article (Typhoid) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Typhoid Fever
Salmonella Typhi Infection
Enteric Fever
Information on the following diseases can be found in the Related Disorders section of this report:
Salmonella
Botulism
Ptomaine Poisoning
Cholera
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Typhoid fever is a bacterial infection that is rare in the United States. However it is not rare in many other countries. Major symptoms may include unusually high fever, headache, loss of appetite, fatigue, abdominal pain and diarrhea.
Symptoms
Typhoid is an intestinal infection caused by the bacterium Salmonella typhi. Antibodies to the bacteria can be detected in the blood (Widal's test). Salmonella typhi can be cultured from the patient's blood, urine and feces as well. The infection incubates for one or two weeks. A gradual development of headache, loss of appetite, fatigue and constipation occurs. During the following weeks there is a gradual rise in temperature to about 104 F, abdominal pain, a slowed pulse rate, nosebleeds, rose-colored spots on the chest and diarrhea. Intestinal ulceration and bleeding can lead to anemia and peritonitis. These conditions may be fatal if the patient is left untreated. Heart failure may also occur.
Even after a complete recovery from Typhoid fever the patient may remain a carrier of the bacteria for a number of weeks, months or even years. Those who have had Typhoid should be very careful of personal hygiene and avoid handling food that other people eat until the bacteria is no longer present in the patient's feces.
Causes
Typhoid is caused by the bacterium Salmonella Typhi. It is the most serious of the Salmonella infections. Contaminated food or water is most often the source of a Typhoid outbreak. Contact with a carrier of the bacterium, polluted water, infected food or milk, shellfish harvested from polluted water, or fresh vegetables grown in contaminated soil are all sources of the Salmonella Typhi bacterium. People who have had Typhoid are "carriers" until the bacteria is completely gone from their body. If they touch food served to other people when their hands are not properly washed, they can spread Typhoid to those who eat the food.
Affected Population
Typhoid affects males and females in equal numbers. In the United States there are only about 500 cases of Typhoid diagnosed each year, and over 62% of these are contracted in other countries. The major sources of cases in the United States between the years 1975-1984 were Mexico (39%) and India (14%). In Mexico, Latin America, Asia, Africa and the Middle East where the fatality rate is as high as 10% each year, Typhoid is still a serious health problem. In the U.S., outbreaks are usually traced to a Typhoid carrier in the food handling business (e.g. restaurants, hotels, etc.).
Related Disorders
Symptoms of the following disorders can be similar to those of Typhoid fever. Comparisons may be useful for a differential diagnosis:
Salmonella poisoning is a form of gastroenteritis. It is the most common cause of outbreaks of foodborne disease in the United States. This bacteria may infect meat, dairy and vegetable products. Outbreaks are most common in warm weather and in children under the age of seven. Nausea, vomiting, and chills are the most common initial symptoms. These are followed by abdominal pain, diarrhea and fever which may last from five days to several weeks. The CDC estimates that there are approximately 2 to 4 million Salmonellosis cases in the United States each year.
Botulism is a form of gastroenteritis caused by a bacterial toxin. This toxin is a neuromuscular poison. It occurs in three forms: foodborne, wound, and infantile botulism. The most common form is foodborne. The patient may experience weakness, fatigue, headache, and dizziness as well as nausea, vomiting, diarrhea and abdominal pain. (For more information on this disorder, choose "Botulism" as your search term in the Rare Disease Database).
Ptomaine Poisoning is the fourth most common cause of bacterial foodborne disease in the United States. It is caused by a protein enterotoxin that is produced after eating infected food, usually meat products. The disease is characterized by severe abdominal cramps and diarrhea. Nausea often occurs as well. However, vomiting and fever are rare.
Cholera is a bacterial infection involving the entire small intestine and marked by severe diarrhea and vomiting. Symptoms are caused by a toxin released by the Vibrio cholerae bacteria. Drinking water, or eating seafood, vegetables, and other foods contaminated with the excrement of Cholera patients spreads the disease. (For more information on this disorder, choose "Cholera" as your search term in the Rare Disease Database).
Therapies: Standard
Typhoid is treated with the antibiotic drugs chloramphenicol, ampicillin, cefoperazone, pefloxacin, co-trimoxazole or trimethoprim-sulfamethoxazole. Precautions to take, especially when visiting countries with unsanitary conditions, includes the practice of good personal hygiene and careful washing of hands. Avoid drinking untreated water, drinks served with ice, unpeeled fruits and vegetables, and other food that is cooked and not served hot. In food preparation; wash and sanitize utensils in hot water; carefully clean cutting boards, work areas and equipment; keep hot foods at 165 F and cold foods at 40 F or colder to avoid the possible growth of bacteria in food. Typhoid vaccination and food precautions are necessary before traveling to developing countries where this kind of disease is prevalent.
Therapies: Investigational
Scientists are investigating vaccines that will hopefully provide the traveler full protection against Typhoid without severe side-effects.
This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Typhoid, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Center for Disease Control (CDC)
1600 Clifton Road
Atlanta, GA 30333
404-329-3534
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1664-1691, 1696.
SALMONELLA TYPHI INFECTIONS IN THE UNITED STATES, 1975-1984: INCREASING ROLE OF FOREIGN TRAVEL , C.A. Ryan, et al.; Rev Infect Dis (January-February, 1989, issue 11 (1)). Pp. 1-8.
CEFOPERAZONE COMPARED WITH CHLORAMPHENICOL IN THE TREATMENT OF TYPHOID
FEVER. F. Paradisi, Chemotherapy (1988, issue 34 (1)). Pp. 71-76.
CLINICAL EXPERIENCE WITH PEFLOXACIN IN THE THERAPY OF TYPHOID FEVER. P.
Chistiano, et al.; Infection (March-April, 1989, issue 17 (2)). Pp. 86-67.
ASSESSMENT ON ANTIMICROBIAL TREATMENT OF ACUTE TYPHOID AND PARATYPHOID
FEVERS IN BRITAIN AND THE NETHERLANDS 1971-1980. R.J. Fallon, et al.; J Infect (March, 1988, issue 16 (2)). Pp. 129-134.
MARY MALLON'S TRAIL OF TYPHOID, C. Cary, FDA Consumer, (June, 1989), Pp. 18-21. (See article in Prevalent Disorders section of NORD Services).
Typhoid
eric{!
~!pagetitle
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@4<4Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders, Inc.
570: Thrombocytopenia, Essential
_________________________
** IMPORTANT **
It is possible that the main title of the article (Essential Thrombocytopenia) is not the name you expected. Please check the disorder subdivisions covered by this article.
Information on the following diseases can be found in the Related Disorders section of this report:
Thrombocytopenia with Absent Radius Syndrome (TAR)
Fanconi's Anemia
von Willebrand Disease
May-Hegglin Anomaly
Chediak-Higashi Syndrome
Kassaback-Merritt Syndrome
Hemophilia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Essential Thrombocytopenia is a rare blood disease affecting the clotting factor (platelets) of the blood. It is characterized by an abnormally low platelet count and a shorter than normal (ten days) platelet survival time. Major symptoms include a tendency to bleed excessively into the skin or mucous membranes, and especially during menstruation. There are many different reasons for the development of decreased marrow production or platelet destruction that causes this disorder. These can sometimes be determined by examination of bone marrow. Other forms of Thrombocytopenia may be associated with hereditary factors.
Symptoms
The major symptom of Essential Thrombocytopenia is excessive bleeding. In the mildest cases, flat red spots (petechiae) that are pinpoint in size are noticed, usually around the feet and ankles. With more serious disease the spots are larger and more widespread. There is a tendency toward sudden nosebleeds and easy bruising. In severe cases, bleeding (hemorrhages) under the skin (purpura) may involve the skin surface, the eyes and mucous membranes of the mouth. In the most serious cases, intracranial hemorrhage may occur. As a result of uncontrolled excessive bleeding, anemia may develop producing weakness, fatigue and signs of congestive heart failure.
Causes
There are three major causes of Thrombocytopenia:
Firstly, a decrease in marrow platelet production may occur as a result of viral infections, drug toxicity (such as drug hypersensitivity), generalized bone marrow disease, malignant disease, systemic infections or aplastic anemia.
Secondly, immune Thrombocytopenia which may develop due to autoimmune destruction of blood platelets when the patients own blood production system attacks itself as if it were a foreign body. Autoimmune disorders are caused when the body's natural defenses against invading organisms (antibodies) begin to attack healthy tissue. Some cases may be linked to abnormal reactions by blood cells (serum antibodies) to a thyroid protein (thyroglobulin), organ wall (parietal) cells, adrenal or thyroid cells.
Idiopathic (cause unknown) thrombocytopenic purpura occurs in children and adults. Sometimes the disease is caused by a condition introduced into the patients body from the outside (alloimmune), such as neonatal purpura and posttransfusion purpura.
Drug-induced immune thrombocytopenia can result from the use of many drugs, e.g., thiazide diuretics, quinine, quinidine, chlorothiazide, hydrocortisone, prednisone, cyclophosphamide, azathioprine, vincristine, indomethacin, phenylbutazone, tricyclic antidepressants, antihistamines, phenothiazines or aspirin.
Thrombotic thrombocytopenic purpura (TTP) can be caused by other blood diseases such as Hemolytic-uremic syndrome (HUD) and Disseminated intravascular coagulation.
Finally, Thrombocytopenia can be due to enlargement of the spleen (splenomegaly) and increased destruction of platelets by the spleen (sequestration).
Affected Population
Thrombocytopenia affects males and females in equal numbers. Idiopathic Thrombocytopenic Purpura (ITP) affects an estimated 100,000-150,000 individuals per year, including ten percent of people affected with HIV.
Related Disorders
Symptoms of the following disorders can be similar to those of Thrombocytopenia. Comparisons may be useful for a differential diagnosis:
May-Hegglin Anomaly is a hereditary blood condition which consists of abnormalities of the platelets and certain leukocytes (white blood cells). Symptoms may or may not be present. Treatment is often not necessary, and the prognosis is usually good. Symptoms include purpura, nosebleeds, excessive bleeding from the mouth during dental work, headaches and muscular weakness on one side of the body due to intracranial bleeding. (For more information on this disorder, choose "May-Hegglin" as your search term in the Rare Disease Database).
von Willebrand Disease is a hereditary blood clotting disorder characterized by prolonged bleeding. Blood clotting is slowed due to a deficiency of the von Willebrand factor protein and factor VIII protein (the factor VIII complex). Also, platelets do not stick together normally causing excessively slow clotting time. Increased risk of excessive bleeding following surgery, dental procedures or injury occurs in patients with this disorder. With proper treatment and appropriate precautions, few patients become seriously handicapped by von Willebrand Disease. The tendency to prolonged bleeding usually decreases with age. (For more information on this disorder, choose "von Willebrand" as your search term in the Rare Disease Database).
Fanconi's Anemia is a rare form of familial aplastic anemia found chiefly in children. It is characterized by bone abnormalities, microcephaly, hypongenitalism and brown pigmentation of the skin. Complications include infections such as pneumonia and meningitis, hemorrhages, and leukemia. Other malignancies also may occur. It is first recognized by the tendency of the patient to bruise more easily than would normally be expected. It is more common in males and is usually detected within the first eight years of life. Growth may be slowed or stunted. (For more information on this disorder, choose "Fanconi" as your search term in the Rare Disease Database).
Chediak-Higashi Syndrome is a rare form of albinism characterized by decreased pigmentation, ocular problems, white blood cell abnormalities and increased susceptibility to infections and certain cancers. It is usually diagnosed in early infancy because of the partial albinism, (lack of pigment in the eyes, hair, and skin). White blood cells are reduced in number; neutrophils as well as lymphocytes are affected. Defects and deficiencies of these cells, which normally provide defense against foreign organisms such as bacteria, result in frequent infections accompanied by high fever. Thrombocytes, or platelets, are also reduced in number resulting in a tendency to bleed excessively upon injury and to bruise easily. (For more information on this disorder, choose "Chediak-Higashi" as your search term in the Rare Disease Database).
Kasabach-Merritt Syndrome causes some patients to have eye and skin hemorrhages. Often large tumors appear containing blood (hemangioma) at various sites on the body, and features of thrombocytopenic purpura appear in the skin. (For more information on this disorder, choose "Kasabach-Merritt" as your search term in the Rare Disease Database).
Hemophilia is a hereditary blood clotting disorder which affects males almost exclusively. Hemophilia is caused by the inactivity of one of the blood proteins necessary (Factor VIII) for clotting, and can be classified by its level of severity; mild, moderate, and severe. Severity is determined by the percentage of active clotting factor in the blood. Persons with severe hemophilia have less than 1% of the normal levels of active clotting factor present in their blood. The general term hemophilia includes Hemophilia A (Classical Hemophilia, Factor VIII deficiency), and Hemophilia B (Christmas Disease, Factor IX deficiency). von Willebrand's Disease (which affects both males and females) and other rare clotting disorders may have similar symptoms but are not usually termed hemophilia. Hemophilia is a sex-linked genetic disorder. (For more information on this disorder, choose "Hemophilia" as your search term in the Rare Disease Database).
Patients with Thrombocytopenia-Absent Radius (TAR) Syndrome, usually have evidence of the blood disorder in the first few months of life along with congenital absence of the shorter of the two bones in the forearm (radius). Congenital heart disease and kidney problems may occur in some cases. There is evidence of autosomal recessive inheritance in TAR syndrome. (For more information on this disorder, choose "TAR" as your search term in the Rare Disease Database.)
Therapies: Standard
Thrombocytopenia is treated by transfusions of normal platelets to control bleeding. When platelet dysfunction is associated with an acquired disorder, successful treatment of the underlying disease often results in improved platelet function. Drugs known to inhibit platelet function, such as those containing aspirin and anti-inflammatory agents, should be avoided. Intravenous (IV) immune globulin may be given to increase platelet production. In rare cases Thrombocytopenia may necessitate the removal of the spleen (splenectomy).
Therapies: Investigational
Abnormalities of platelet function in Thrombocytopenia are being treated experimentally with plasmapheresis. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Thrombocytopenia. Additionally, the orphan drug anagrelide is also being tested as a treatment for this disorder. For more information about anagrelide physicians can contact:
Roberts Pharmaceutical Corp.
Meridian Center III
6 Industrial Way West
Eatontown, NH 07724
(908) 389-1182
Irradiation of the spleen using low dose radiation is showing short term improvement in the platelet count of some patients with ITP. More investigation of this treatment is necessary to determine the long-term safety and effectiveness of this protocol.
A new anti-Rh immune globulin WinRho SD, is being developed by Univax Biologics for treatment of people with Idiopathic Thrombocytopenic Purpura. This drug may reduce platelet counts, reducing the risk of bleeding in people with ITP. WinRho SD is being tested on approximately 300 people with this disorder.
This disease entry is based upon medical information available through December 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Essential Thrombocytopenia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Heart, Blood, & Lung Institute (NHBLI)
Office of Public Inquiries
9000 Rockville Pike
Bethesda, MD 20892
The following organization will answer questions only about TAR Syndrome. It does not provide information about other forms of Thrombocytopenia:
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1001-1008.
SUCCESSFUL INTRAVENOUS IMMUNE GLOBULIN THERAPY FOR HUMAN IMMUNODEFICENCY
VIRUS-ASSOCIATED THROMBOCYTOPENIA. A.N Pollak, et al.; Arch Intern Med (March, 1988, issue 148 (3)). Pp. 695-697.
SPLENECTOMY FOR THROMBOCYTOPENIA DUE TO SECONDARY HYPERSPLENISM. W.W.
Coon, Arch Surg (March, 1988, issue 148 (3)). Pp. 369-371.
SUCCESSFUL CONSERVATIVE MANAGEMENT OF THROMBOCYTOPENIA IN ADULT
HEMOPHILIACS. J.C. Goldsmith, et al.; Transfusion (January and February, 1988, issue 28 (1)). Pp. 68-69.
Thrombocytopenia, Essential
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657: Thrombocytopenia-Absent Radius Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Thrombocytopenia-Absent Radius Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Information on the following disease can be found in the Related Disorders section of this report:
Fanconi's Anemia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Thrombocytopenia-Absent Radius (TAR) Syndrome is a genetic disorder characterized by a very low level of the number of blood platelets (thrombocytopenia) and the absence or underdevelopment of one of the short bones (radius) in the arm.
Symptoms
The very low level of the number of blood platelets (thrombocytopenia) is most severe during early infancy of TAR Syndrome patients. Thrombocytopenia may cause excessive bleeding from the skin, mucous membranes (thin moist layer lining the body's cavity), or within the skull (intracranial). Other blood disorders may also occur: absent or underdeveloped blood platelet precursors (megakaryocytes); a high number of a type of white blood cells (eosinophilia); leukemia-like levels of the number of white blood cells (granulocytosis); and (anemia). TAR infants are more likely to develop an intolerance to cow milk.
One of the two short bones (the radius) of the arm is absent or underdeveloped and it usually involves both arms. It may be associated with the underdevelopment of the other short bone (the ulna) of the arm and defects of the hands, legs, and/or feet.
Short stature, bowed legs, shortened long bone of the arm (humerus), underdeveloped shoulder girdle (several bones that support the arms), and dislocation of the hip may also be present. Kidney or heart defects, a purplish birthmark (nevus flammeus) on the forehead, and spina bifida (incomplete closure of vertebrae in the spinal column) may also be present.
Causes
TAR Syndrome is inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.)
Affected Population
TAR Syndrome is a rare disorder that occurs at birth. It affects males and females in equal numbers.
Related Disorders
Symptoms of the following disorder can be similar to those of Thrombocytopenia-Absent Radius (TAR) Syndrome. Comparisons may be useful for a differential diagnosis:
Fanconi's Anemia is a rare hereditary disorder characterized by anemia due to defective functioning of the blood-forming organs, bone abnormalities, unusually small head, retarded growth and development of the genitalia, and brown pigmentation. Excessive bleeding, infections, and leukemia may also occur. This disorder is more common in males and is usually detected within the first eight years of life. (For more information on this disorder, choose "Fanconi" as your search term in the Rare Disease Database).
Therapies: Standard
Early management is necessary for the various blood conditions of TAR Syndrome patients. Braces and/or surgery may be necessary for bone malformations related to this disorder.
Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Thrombocytopenia-Absent Radius Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Thrombocytopenia Absent Radius Syndrome Association (TARSA)
312 Sherwood Drive
R.D. 1
Linwood, NJ 08221
(609) 927-0418
NIH/National Institute of Child Health and Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
For Genetic Information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1207-1208.
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1008.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones; W.B. Saunders Company, 1988. Pp. 276, 984.
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME: A.G. Aledo, et al.; An Esp Pediatr (January, 1982: issue 16(1)). Pp. 82-87.
Thrombocytopenia-Absent Radius Syndrome
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Copyright (C) 1989, 1990 National Organization for Rare Disorders, Inc.
637: Tietze Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of this article (Tietze Syndrome) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Chondropathia Tuberosa
Costochondral Junction Syndrome
Information on the following conditions can be found in the Related Disorders section of this report:
Spinal Root Pain
Chest Wall Syndrome
Costal Chondritis (Costochondritis)
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report.
Tietze Syndrome is characterized by pain in the chest wall and a firm, spindle-shaped swelling in the cartilage of one or more of the upper ribs.
Symptoms
Tietze Syndrome is characterized by mild to severe localized pain and tenderness in one or more of the upper four ribs. A firm, spindle-shaped swelling occurs in the cartilage of these ribs. An aching, gripping, sharp, dull, or neuralgic pain occurs in this area. The pain usually subsides after several weeks or months, but the swelling may persist.
Causes
The exact cause of Tietze Syndrome is not known.
Affected Population
Tietze Syndrome usually affects older children and young adults. Males and females are affected in equal numbers.
Related Disorders
Symptoms of the following conditions can resemble those of Tietze Syndrome. Comparisons may be useful for a differential diagnosis:
Spinal Root lesions or compression can cause chest pain in the form of a deep, boring, aching discomfort, or a sharp sudden and piercing pain. This pain usually occurs after sudden movement of the body, such as sneezing, coughing, laughing or straining.
Chest Wall Pain is a term given to several conditions characterized by anterior chest pain. A dull, aching pain occurs which varies in response to strain, inflammation, malposition or infiltration of muscles, ligaments, cartilage, or bones in the chest wall. Irritation of a nerve root from the neck or upper spine, or a fractured rib, can also cause chest wall pain. Treatment is aimed at the underlying cause of the pain. Tietze Syndrome is part of this group of painful conditions.
Costal Chondritis or Costochondritis is the inflammation of the cartilage part of the rib. It may affect one or more rib (costal) cartilages. It is characterized by pain of the chest wall which may radiate. The local swelling that is typical of Tietze Syndrome is absent in Costal Chondritis.
Therapies: Standard
Treatment for Tietze Syndrome consists of rest, local heat, and pain medication. Usually the pain subsides after several weeks or months, but the palpable swellings may persist for some time.
Therapies: Investigational
This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tietze Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
References
CLINICAL EXPERIENCE OF DRUG TREATMENTS FOR MASTALGIA: J.K. Pye, et al.; Lancet (August 17, 1985: issue 2(8451)). Pp. 373-377.
MUSCULOSKELETAL CHEST WALL PAIN: A.G. Fam, et al.; Canadian Med Assoc Journal (September 1, 1985: issue 133(5)). Pp. 379-389.
INTERNAL MEDICINE, 2nd ed.: Jay H. Stein, et al, eds; Little, Brown, 1987. P. 610.
Tietze Syndrome
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Copyright (C) 1986, 1993 National Organization for Rare Disorders, Inc.
210: Tinnitus
_________________________
** IMPORTANT **
It is possible that the main title of this article (Tinnitus) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Information on the following disorder can be found in the Related Disorders Section of this report.
Bruit
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tinnitus is the perception of sound such as a ringing in the ears, in the absence of an acoustic stimulus. The disorder may be caused by a variety of ear problems including obstruction, infections, Meniere's disease, certain medications and head injuries.
Symptoms
A patient afflicted with Tinnitus may hear buzzing, ringing, roaring, whistling, or hissing sound without any external acoustic stimuli present. Sometimes the disorder may involve more complex sounds which vary over time. Symptoms of Tinnitus may be intermittent or continuous. An associated hearing loss is often present when symptoms occur, and can become permanent in severe cases.
Causes
Tinnitus may occur as a symptom of many disorders of the ear. It may be due to an obstruction of the external auditory canal due to ear wax and foreign bodies, infections (i.e., external otitis, myringitis, otitis media, labyrinthitis, petrositis, syphilis, and meningitis), eustachian tube obstruction, otosclerosis, Meniere's disease, arachnoiditis, and cerebellopontine angle tumors. The side effects of medications such as aspirin, quinine and its synthetic analogs, aminoglycoside antibiotics, and certain diuretics may also result in tinnitus. Carbon monoxide, heavy metals, alcohol, etc., cardiovascular diseases (i.e., hypertension, arteriosclerosis), anemia, and hypothyroidism may also cause tinnitus. Hereditary sensorineural hearing loss, noise-induced hearing loss, acoustic trauma (blast injury), or head injuries may also produce these symptoms.
Related Disorders
Bruit is a noise which may be heard by the examiner and sometimes by the patient; e.g., noise from rapid blood flow in a blood vessel. In some mental illnesses such as schizophrenia, a patient may hear imaginary sounds (hallucinations).
Therapies: Standard
If the tinnitus occurs as the result of an underlying disease, treatment of the primary disorder may improve the tinnitus. Some patients may obtain some relief from using a tinnitus masker, a device worn like a hearing aid that presents a noise more pleasant than that associated with Tinnitus. However, there is no medical procedure or drug at this time which can alter the unpredictable course of tinnitus when it is not associated with a treatable primary disease process.
Therapies: Investigational
A surgical procedure using microsurgical techniques is often suggested in the most severe cases of Tinnitus. The surgery seeks to relieve pressure on the hearing part of the eighth cranial nerve. For more information on this type of surgery, physycians may contact her at:
Dr. Margareta Moller
Presbyterian University Hospital, Rm. F948
230 Lothrup St.
Pittsburgh, PA 15213
(412) 647-0444
This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tinnitus, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
American Tinnitus Association
P.O. Box 5
Portland, OR 97207
(503) 248-9985
NIH/National Institute of Deafness & Other Communication Disorders
(NIDCD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
References
THE MERCK MANUAL, 15th ed., Robert Berkow, M.D., ed in chief, published by Merck, Sharp & Dohme Research Labs, Rahway, NJ, 1987. Pp. 2172
Tinnitus
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Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
399: Tolosa-Hunt Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Tolosa-Hunt Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Ophthalmoplegia, Painful
Ophthalmoplegia Syndrome
Information on the following diseases can be found in the Related Disorders section of this report:
Orbital Cellulitis
Cavernous Sinus Thrombosis
Ophthalmoplegia
Migraine Headache
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tolosa-Hunt Syndrome is characterized by severe headaches often preceding painful eye muscle paralysis (ophthalmoplegia). Symptoms usually affect only one side of the head. Double vision, fever, vague feelings of discomfort, nausea and vomiting (which are symptoms often associated with migraine headaches) may also occur. With treatment, pain may subside in twenty-four to seventy-two hours. In untreated cases, acute attacks may ease within fifteen to twenty days.
Symptoms
The major symptoms of Tolosa-Hunt Syndrome include chronic headaches, mild fever and vision impairment followed by painful eye muscle paralysis. Swelling, protrusion of the eye, drooping eyelid, diminished vision and abnormal skin sensations around the eye may be associated with the paralysis. These symptoms usually occur on only one side of the head. Additionally, symptoms often associated with migraine headaches such as double vision, nausea, vomiting and a general feeling of discomfort may develop. Symptoms of Tolosa-Hunt Syndrome can recur spontaneously several times even after treatment in some cases.
Causes
Tolosa-Hunt Syndrome is thought to be caused by an abnormal autoimmune response linked with an inflammation in the area behind the eyes (cavernous sinus and superior orbital fissure). Autoimmune disorders are caused when the body's natural defenses against begin to attack healthy tissue for unknown reasons. Other possible causes include generalized inflammation and constricted or inflamed cranial blood vessels.
Affected Population
Tolosa-Hunt Syndrome occurs in males and females in equal numbers. Average age of onset is forty-one years of age although it may occur at any age.
Related Disorders
Symptoms of the following disorders can be similar to Tolosa-Hunt Syndrome.
Orbital Cellulitis is characterized by inflammation of the tissues surrounding the cavity which holds the eyeball. Symptoms include extreme pain, impaired eye movement, swelling, fever and a general feeling of discomfort. Possible complications may include impaired vision, vein abnormalities and spread of the inflammation to the entire eye area, brain or the membranes surrounding the brain.
Cavernous Sinus Thrombosis is an ophthalmologic disorder usually caused by infection and clotting in veins behind the eyeballs. It can be a complication of Orbital Cellulitis or infections of facial skin. Swelling and protrusion of the eye, fever, headache and possibly convulsions are symptoms of this disorder. Prompt treatment with antibiotics, intravenous fluids and bed rest is recommended.
Migraine Headaches usually involve one side of the head like the Tolosa-Hunt Syndrome. Individuals who suffer from these intense headaches may have a genetic predisposition to them. Often associated with these painful attacks are irritability, nausea, vomiting, constipation or diarrhea, and sensitivity to light. Medical researchers believe constriction of the cranial arteries may precede migraine headaches in some cases. Fever and eye muscle paralysis are not symptomatic of migraine headaches and should alert physicians to the possibility of Tolosa-Hunt Syndrome.
The following disorder may be associated with Tolosa-Hunt Syndrome as a secondary characteristic. This is not necessary for a differential diagnosis:
Ophthalmoplegia is a symptom of Tolosa-Hunt Syndrome. It is defined as paralysis of the eye muscles. The eye itself is unable to move or look in various directions. Swelling, diminished clear vision, drooping eyelids, unusual skin sensations in the area around the eye or protrusion of the eyeball may be associated with the paralysis. This condition may accompany a variety of other disorders. Symptoms can range from mild to severe.
Therapies: Standard
The pain associated with Tolosa-Hunt Syndrome may improve with short term use of steroid drugs in many cases. Pain usually subsides in untreated cases within fifteen to twenty days. With drug treatment, pain may subside within twenty-four to seventy-two hours although attacks may recur at any time in the future.
Therapies: Investigational
This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tolosa-Hunt syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Migraine Foundation
5252 North Western Avenue
Chicago, IL 60625
(312) 878-7715
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
References
STEROID RESPONSIVE OPHTHALMOPLEGIA IN A CHILD. DIAGNOSTIC CONSIDERATIONS:
R.S. Kandt, et al.; Arch Neurol (June 1985, issue 42(6)). Pp. 589-591.
TRANSIENT UNILATERAL OCULOMOTOR PARALYSIS: E. Kattner, et. al.; Monatsschr Kinderheilkd (March 1985, issue 133(3)). Pp. 175-177.
A NEW ETIOLOGY FOR VISUAL IMPAIRMENT AND CHRONIC HEADACHE. THE TOLOSA-
HUNT SYNDROME MAY BE ONLY ONE MANIFESTATION OF VENOUS VASCULITIS: J.
Hannerz, et al.; Cephalalgia (March 1986, issue 6(1)). Pp. 59-63.
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Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
340: Tongue Carcinoma
_________________________
** IMPORTANT **
It is possible the main title of the article (Tongue Carcinoma) may not be the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Cancer of the Tongue
Carcinoma of the Tongue
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tongue Carcinoma is an oral cancer which is characterized by an ulcerating malignant tumor, usually on the side of the tongue, consisting of scaly (squamous) cells. The tumor may spread to the lymph nodes on the same side of the neck.
Symptoms
In Tongue Cancer local pain may occur, possibly later radiating to the entire side of the face. The most common sign of cancer in the mouth is a sore that fails to heal and that bleeds rather easily. There may be restricted movement of the tongue or discomfort in wearing dentures. Swelling of the lymph nodes on the same side of the neck may occur in about half the patients if the tumor spreads.
Causes
The cause of Tongue Carcinoma is unknown. Inadequate oral hygiene and thickened white patches on the mucous membranes of the oral cavity (leukoplakia) may be a cause. The disorder is statistically linked with alcoholism, cirrhosis of the liver, excessive smoking, or syphilis.
Irritation by jagged teeth, projecting fillings and ill-fitting dentures may also be factors contributing to development of Tongue Carcinoma. As in some other types of cancer, the possibility of a genetic predisposition to malignancy may also be a factor.
Affected Population
Tongue Carcinoma is a rare form of cancer that tends to affect more men than women, usually between 40-60 years of age. During recent years, the proportion of women with this type of cancer has grown. The frequency of this disorder among the population tends to increase with age. All types of oral cancer combined strike about 27,000 persons in the United States each year.
Related Disorders
There are many types of mouth cancer. All types are relatively rare.
Carcinoma of the Floor of the Mouth is characterized by a hard growth that can be felt by the tip of the tongue. Pain in the ear, increased salivation, difficulty speaking and later bleeding, are signs of this disorder. This type of cancer may be caused by poor oral hygiene or irritation of the tissues by sharp teeth, ill-fitting dentures, smoking, etc. Frequently the lymph nodes in the neck are also affected.
Carcinoma of the Cheek (Mouth, Buccal Mucosa, Carcinoma) is characterized by a malignant lesion in the cheek, pain, difficulty chewing, spasms in the cheek muscles (trismus) and mucosal bleeding. The carcinoma may spread to the lymph glands under the jaw.
Therapies: Standard
Surgery consisting of excision of tongue muscle and neck lymph nodes is used for treatment of Tongue Carcinoma, sometimes in combination with pre- or postoperative radiation. A special type of radiation can be applied by implanting needles containing radioactive elements to destroy the cancer in localized areas (interstitial irradiation). Chemotherapy may also be used as therapy.
The survival rate of 5 years for this disorder is 28%. Early diagnosis and treatment is imperative, especially in persons under 20 years of age.
Therapies: Investigational
This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tongue Carcinoma, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
American Cancer Society
1599 Clifton Rd., NE
Atlanta, GA 303291
(404) 320-3333
NIH/National Cancer Institute
9000 Rockville Pike, Bldg. 31, Rm. 1A2A
Bethesda, MD 20892
1-800-4-CANCER
The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment.
References
WHAT YOU NEED TO KNOW ABOUT CANCER OF THE MOUTH: Reprinted: U.S. Department of Health and Human Services; Public Health Service; National Institutes of Health; National Cancer Institute. (March 1985.)
CHANGING TRENDS IN THE MANAGEMENT OF SQUAMOUS CARCINOMA OF THE TONGUE:
C. D. Callery, et al.; American Journal of Surgery (October 1984: issue 148,4). Pp. 449-454.
SURGICAL TREATMENT OF EARLY-STAGE CARCINOMA OF THE ORAL TONGUE--WOULD
WOUND ADJUVANT TREATMENT BE BENEFICIAL? Head and Neck Surgery (July-August 1986: issue 8,6). Pp. 401-408.
Tongue Carcinoma
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Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc.
334: Tongue, Fissured
_________________________
** IMPORTANT **
It is possible the main title of the article (Fissured Tongue) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disordered subdivisions covered by this article.
Synonyms
Furrowed Tongue
Lingua Fissurata
Lingua Plicata
Lingua Scrotalis
Plicated Tongue
Scrotal Tongue
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Fissured Tongue can be either a hereditary condition or it may be acquired. This disorder is characterized by irregular markings of the surface of the tongue.
Symptoms
Fissured Tongue is characterized by a division into lobules, convolutions, and ridges on the tongue that resemble the skin patterns of the scrotum. The markings on the back of the tongue are exaggerated, and knoblike projections (fungiform papillae) may be prominent. The grooves tend to radiate from the central depression of the tongue, resembling the ribs of a leaf. It is probably a secondary phenomenon, caused by the topography of the underlying muscle bundles. Pain in the tongue (glossodynia) sometimes occurs with this condition.
Causes
Fissured Tongue may occur in an acquired form or a hereditary form. In the hereditary form the disorder is transmitted as a probably autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) This type of Fissured Tongue may also be associated with other primary conditions such as Acromegaly, Down's Syndrome, or Geographic Tongue.
(For more information on these disorders, choose "Acromegaly", "Down", and "Geographic Tongue" as your search terms in the Rare Disease Database.)
When the disorder is acquired it may be caused by infections such as syphilis, scarlet fever, or typhoid fever.
Affected Population
Fissured Tongue can affect persons of both sexes, and all ethnic groups.
Related Disorders
Hairy Tongue is a disorder characterized by yellowish, brownish, blackish, or bluish discoloration of the tongue, with excessive growth of the threadlike elevations (filiform papillae) in front of the tastebuds. A bad taste in the mouth usually also occurs.
Geographic Tongue is an inflammation of the tongue that may go into remission and recur again. This form of inflammation is characterized by migrating denuded smooth areas (excoriations) on the tongue which may feel slightly sore and sometimes itchy.
(For more information on the above disorders, choose "Hairy Tongue" and "Geographic Tongue" as your search terms in the Rare Disease Database.)
In Moeller's Glossitis, the tongue is slick, glossy, or glazed. The lesions are very distressing and persistent.
Median Rhomboid Glossitis is a developmental lesion of the tongue. This lesion consists of a smooth, reddish, nodular area on the back portion of the middle third of the tongue.
Severe Acute Glossitis can occasionally be caused by local infection, burns, or injury to the tongue. This type of Glossitis may develop rapidly, producing marked tenderness or pain with swelling. The swelling may be sufficient to cause the tongue to block air passages in the most severe cases.
Therapies: Standard
In Fissured Tongue, oral hygiene is very important to keep the ridges in the tongue free of foreign matter that might otherwise cause inflammation. The symptoms of Fissured Tongue may disappear spontaneously.
Therapies: Investigational
This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Fissured Tongue, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Dental Research
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4261
Clinical Smell and Taste Research Center
University of Pennsylvania Hospital
3400 Spruce Street, G1
Philadelphia, PA 19104
(215) 662-2653
Department of Oral Biology
Connecticut Chemosensory Clinical Research Center
University of Connecticut Health Center
Farmington, CT 06032
(203) 674-2459
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
NONPAINFUL, ERYTHEMATOUS, CIRCINATE LESIONS OF A PROTEAN NATURE ON A FISSURED
TONGUE: R. W. Correll, et al.; Journal of the American Dental Association (July 1984, issue 109, 1). Pp. 90-91.
GLOSSAL DOUBLE FISSURES IN PRE- AND POST-NATAL HUMAN SPECIMENS: A G.
Farman; Journal of Oral Pathology (November 1977, issue 6,6). Pp. 387-395.
Tongue, Fissured
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Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc.
332: Tongue, Geographic
_________________________
** IMPORTANT **
It is possible the main title of the article (Geographic Tongue) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
BMG
Benign Migratory Glossitis
Glossitis Areata Migrans
Wandering Rash Tongue
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Geographic Tongue is an inflammation of the tongue (Glossitis) that may go into remission and recur again. This form of inflammation is characterized by irregular, migrating denuded smooth areas (excoriations) on the tongue which may feel slightly sore and sometimes itchy.
Symptoms
Geographic Tongue is an inflammation of the tongue characterized by irregularly shaped denuded smooth areas which are sometimes slightly sore and itchy. These areas usually occur on the margins and the tip of the tongue, and may appear in bow-shaped lines on the surface. The lesions sometimes advance forward while healing occurs toward the back of the tongue. This change in location also causes a change in configuration. The coalescence of the lesions into figures which look like a map has given this disorder the name of Geographic Tongue.
Causes
The exact cause of Geographic Tongue is unknown. Some scientists suspect that it may be caused by changes in the bacteria which are normally present in the mouth (oral flora).
There are many other possible causes of Geographic Tongue.
Local causes may include the following:
1. Infectious bacteria and viruses
2. Lesions from mechanical injury such as jagged teeth, ill-fitting dentures, poor oral habits, or repeated biting of the tongue during convulsive seizures
3. Substances such as alcohol in excessive amounts, tobacco, and hot or spicy foods in excessive amounts
4. The tongue may become oversensitized to toothpaste, mouthwashes, breath fresheners, candy dyes, and, rarely, plastic dentures or materials used in restoring teeth.
Systemic causes may include:
1. Lack of vitamins (avitaminosis) particularly of the Vitamin B group
2. Other illnesses or conditions such as pellagra, pernicious anemia, iron deficiency anemia, certain generalized skin diseases such as lichen planus, erythema multiforme, aphthous lesions, Behcet's syndrome, pemphigus vulgaris, or syphilis may cause Geographic Tongue.
For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: anemia, skin, lichen planus, erythema multiform, lesions, Behcet, pemphigus, and syphilis.
Affected Population
Onset of Geographic Tongue usually occurs in childhood. The disorder affects both males and females and may appear at any age.
Related Disorders
Persons with Anemia or Pellagra may also have a tongue with denuded smooth areas. Lesions are moderately painful.
In Moeller's Glossitis, the tongue is slick, glossy, or glazed. The lesions are very distressing and persistent.
Median Rhomboid Glossitis is a developmental lesion of the tongue. This lesion consists of a smooth, reddish, nodular area on the back portion of the middle third of the tongue.
Hairy Tongue is characterized by yellowish, brownish, blackish or bluish discoloration of the tongue, usually caused by the absence of normal bacteria in the mouth. Excessive growth of the threadlike elevations (filiform papillae) in front of the taste buds also occurs.
Severe Acute Glossitis can occasionally be caused by local infection, burns, or injury to the tongue. This type of Glossitis may develop rapidly, producing marked tenderness or pain with swelling. The swelling may be sufficient to cause the tongue to block air passages in the most severe cases.
Burning Tongue (and/or Mouth) Syndrome causes patients to experience a burning sensation in the mouth and/or the tongue. There is no obvious clinical evidence of inflammation.
Inflammation of the tongue may also occur in association with Candidiasis (Thrush), anemias, Diabetes Mellitus, latent nutritional deficiencies, or malignancies.
For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: tongue, Hairy Tongue, Burning Mouth, Candidiasis, anemia, and Diabetes Mellitus.
Therapies: Standard
It is generally recommended that people with Geographic Tongue avoid irritants and substances which may sensitize the tongue. A bland or liquid diet, preferably cooled, is best. Meticulous oral hygiene is imperative, but care should be taken to preserve proper bacterial balance within the mouth.
Local application of triamcinolone acetonide in emollient dental paste to specific lesions may relieve symptoms and promote healing.
Therapies: Investigational
This disease entry is based upon medical information available through March 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Geographic Tongue, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Dental Research
9000 Rockville Pike
Bethesda, MD 20892
(301)496-4261
Clinical Smell and Taste Research Center
University of Pennsylvania Hospital
3400 Spruce Street, G1
Philadelphia, PA 19104
(215) 662-2653
Department of Oral Biology
Connecticut Chemosensory Clinical Research Center
Farmington, CT 06032
(203) 674-2459
References
MERCK MANUAL OF DIAGNOSIS AND THERAPY: Robert Berkow, et al., eds; Merck, Sharp & Dohme Research Laboratories, 1982. P. 2094.
Tongue, Geographic!
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Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
331: Tongue, Hairy
_________________________
** IMPORTANT **
It is possible the main title of the article (Hairy Tongue) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Lingua Nigra
Black Hairy Tongue
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Hairy Tongue is a disorder characterized by yellowish, brownish, blackish, or bluish discoloration of the tongue, with excessive growth of the threadlike elevations in front of the taste buds (filiform papillae). These elevations are arranged in a V-form towards the back of the tongue. A bad taste in the mouth usually also occurs.
Symptoms
Hairy Tongue is a disorder characterized by yellowish, brownish, blackish, or bluish discoloration of the tongue. Excessive growth of the filiform papillae in front of the taste buds occurs. Usually, Hairy Tongue has no other symptoms. The disorder may disappear spontaneously and may recur in some patients.
Causes
The cause of Hairy Tongue is not always known. The disorder may be a result of antibiotic therapy, fever, excessive use of certain mouthwashes, or a reduction in salivary flow. Brown papillae usually occur from tobacco staining or the overgrowth of bacteria.
Hairy Tongue can be a symptom of changes in the normal bacteria of the mouth (oral flora). Antibiotics which may be prescribed to fight bacterial infection, sometimes kill normal bacteria that live in the mouth. In the absence of the normal oral flora, Hairy Tongue can appear.
Affected Population
Onset and duration of Hairy Tongue is variable. The disorder can affect both males and females, children and adults.
Related Disorders
Geographic Tongue is an inflammation of the tongue that may go into remission and recur again. This form of inflammation is characterized by irregular denuded smooth areas (excoriations) on the tongue which may feel slightly sore and sometimes itchy.
In Moeller's Glossitis (inflammation of the tongue), the tongue is slick, glossy, or glazed. The lesions are very distressing and persistent.
Median Rhomboid Glossitis is a developmental lesion of the tongue. This lesion consists of a smooth, reddish, nodular area on the back portion of the middle third of the tongue.
Severe Acute Glossitis can occasionally be caused by local infection, burns, or injury to the tongue. This type of Glossitis may develop rapidly, producing marked tenderness or pain with swelling. The swelling may be sufficient to cause the tongue to block air passages in the most severe cases.
Burning Tongue (and/or Mouth) Syndrome causes patients to experience a burning sensation in the mouth and/or the tongue. There is no obvious clinical evidence of inflammation.
Inflammation of the tongue (Glossitis) may also occur in association with Candidiasis (Thrush), anemias, Diabetes Mellitus, latent nutritional deficiencies, or malignancies.
For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: tongue, Geographic Tongue, Burning Mouth, Candidiasis, anemia, and diabetes mellitus.
Therapies: Standard
Treatment of Hairy Tongue includes avoidance of irritants and substances which can sensitize the tongue. Discontinuation of antibiotics, mouthwashes, etc., usually results in disappearance of symptoms as normal oral flora grow in the mouth. The symptoms of Hairy Tongue may also disappear spontaneously.
Therapies: Investigational
This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Hairy Tongue, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Dental Research
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4261
Clinical Smell and Taste Research Center
University of Pennsylvania Hospital
3400 Spruce Street, G1
Philadelphia, PA 19104
(215) 662-2653
Department of Oral Biology
Connecticut Chemosensory Clinical Research Center
University of Connecticut Health Center
Farmington, CT 06032
(203) 674-2459
References
MERCK MANUAL OF DIAGNOSIS AND THERAPY: Robert Berkow, et al., eds; Merck, Sharp & Dohme Research Laboratories, 1982. Pp. 2094-2095.
Tongue, Hairy
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331: Tongue, Hairy
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Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.
537: Tooth and Nail Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Tooth and Nail Syndrome) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Dysplasia of Nails With Hypodontia
Information on the following diseases can be found in the Related Disorders section of this report:
Rapp-Hodgkin's Syndrome
Nail Dystrophy-Deafness Syndrome
Hidrotic Ectodermal Dysplasias
Anhidrotic Ectodermal Dysplasias
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tooth and Nail Syndrome is a rare genetic, non-progressive disorder of the fetal ectodermal germ cell layer. The exact genetic and biochemical defects causing this disorder are not understood and are thought to vary between those affected.
Symptoms
Major symptoms of Tooth and Nail Syndrome may include lack of development of mandibular incisors, second molars, maxillary canines, and other permanent teeth. Abnormal growth of nails on the hands and feet also occurs.
Causes
The exact cause of Tooth and Nail Syndrome is not known, although it is thought to be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.)
Affected Population
Tooth and Nail Syndrome affects males and females in equal numbers. It is frequently found in high concentrations among Canadian Dutch Mennonite populations.
Related Disorders
There are fifty-two Syndromes associated with Ectodermal Dysplasia. Symptoms of the following disorders are the most closely related to those of Tooth and Nail Syndrome. Comparisons may be useful for a differential diagnosis:
Rapp-Hodgkin's Syndrome is an inherited disorder in which the sweat glands are affected as well as the teeth and nails. (For more information on this disorder, choose Ectodermal Dysplasia as your search term in the Rare Disease Database).
Nail Dystrophy-Deafness Syndrome is an inherited disorder in which the hearing is affected as well as the teeth and nails.
Hidrotic Ectodermal Dysplasias is an inherited disorder in which the teeth are not affected as they are in Tooth and Nail Syndrome.
Anhidrotic Ectodermal Dysplasias is an inherited disorder which affects the oil secreting (sebaceous) glands in the skin and hair shafts. Syndromes with this pattern tend to be more severe. (For more information on these disorders, choose Ectodermal Dysplasias as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Tooth and Nail Syndrome with the use of dentures may be helpful. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tooth and Nail Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Foundation for Ectodermal Dysplasias
219 E. Main St.
Mascoutah, IL 62258
(618) 566-2020
NIH/National Institute of Child Health and Human Development (NICHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
This Rare Disease Database entry is based upon outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics, and the following articles:
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.722.
Tooth and Nail Syndrome
or ik
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Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
350: TORCH Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (TORCH Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
TORCH Syndrome is a combination of 4 infectious diseases. The syndrome can occur in newborn babies, children, or adults with an impaired immune system. The four infections are:
Symptoms
TORCH Syndrome is a combination of 4 infectious diseases. The syndrome can occur in newborn babies, children, or adults with an impaired immune system. They include:
1) Toxoplasmosis Toxoplasmosis is an infectious disease that can be caused by a microscopic parasitic organism called Toxoplasma gondii. This parasitic infection, found worldwide, can be either acquired or transmitted to an infant from an infected mother during pregnancy. (For more information on this disorder, choose "Toxoplasmosis" as your search term in the Rare Disease Database.)
2) Rubella (German Measles) Rubella is a contagious virus infection characterized by swelling of the lymph glands and a skin rash. An infant born to a mother who is infected with the Rubella virus may have congenital defects such as poor vision, blindness and/or hearing impairment. (For more information on this disorder, choose "Rubella" as your search term in the Rare Disease Database.)
3) Cytomegalovirus Infection Cytomegalovirus Infection (CMV) is a virus infection which may occur right after birth or at any age. CMV can range in severity from a silent infection without consequences, to a disease manifested by fever, hepatitis, and in newborns, severe brain damage, stillbirth or perinatal death. (For more information on this disorder, choose see "Cytomegalovirus" as your search term in the Rare Disease Database.)
4) Herpes, Neonatal Neonatal Herpes is a very rare disorder affecting newborn infants infected with the Herpes simplex virus (HSV), also called Herpesvirus hominis. This disorder can vary from mild to severe. In most cases, the disorder is transmitted to an infant from an infected mother with active genital lesions at the time of delivery. Another technical possibility would be the transmission of the virus assymptomatically from mother to child at the time of delivery. In the event that a mother has a severe primary genital outbreak, it is possible that a mother could transmit the infection to the fetus. After delivery, direct contact with either genital or oral herpes sores could result in neonatal herpes. (For more information on this disorder, choose "Neonatal Herpes as your search term in the Rare Disease Database.)
In the mild form, Neonatal Herpes may cause the skin, eyes, and mouth to become infected, and symptoms may recur for some time. Also, a mild case of neonatal herpes would likely include "blistery red lesions - lesions on the skin of an infant SHOULD be of great concern, but they no NOT necessarily mean the child will go on to develop serious disseminated disease.
Severe neonatal herpes could be caused by either type 1 or type 2 infection. However, because the most common means of transmission is from mother to child at delivery, type 2 (which causes approximately 85% of genital herpes infections) would be more likely to cause neonatal herpes (in any form, mild to severe). In its severe form, Neonatal Herpes is a serious disease characterized by blistery (vesicular) red lesions of the skin and mucous membranes. Liver, spleen, lungs, brain, kidneys, and adrenal glands may also become infected.
Causes
The infectious TORCH Syndrome is caused by the Toxoplasmosis parasite and the 3 viruses causing Rubella, Cytomegalovirus infection, and Neonatal Herpes. In order for a patient to be affected by all of these very serious infections together, the victim must have an impaired immune system which makes it vulnerable to infections.
Affected Population
TORCH syndrome affects newborn infants or adults with an impaired immune system. Babies who are born with immune deficiencies and adults whose immunity is impaired as a result of cancer chemotherapy may be vulnerable to this syndrome. The syndrome has been found and studied in the United States, France, Italy, Turkey, Saudi Arabia, and Thailand.
Therapies: Standard
Treatment for TORCH Syndrome encompasses the treatments for the four disorders which together form the syndrome. These include antibiotics and antiviral drugs aimed at treating the infectious agents.
Therapies: Investigational
This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on TORCH Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Toxoplasmosis Interest Group
52 Edgell Street
Gardner, MA 01440
(617) 632-7783
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
(404) 639-3534
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Ave.
White Plains, NY
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
THE TORCH SYNDROME, A CLINICAL REVIEW: J. D. Fine, and K. A. Arndt; Journal of the American Academy of Dermatology (April 1985: issue 12,4). Pp. 2477-2478.
TORCH, A LITERATURE REVIEW AND IMPLICATIONS FOR PRACTICE: L. Haggerty; Journal for Obstetric and Gynecological Nursing (March-April 1985: issue 14,2). Pp. 124-129.
TORCH Syndrome
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-Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1992 National Organization for Rare Disorders, Inc.
2: Tourette Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Tourette Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article.
Synonyms
Brissaud's II
Chronic Multiple Tics
Coprolalia-Generalized Tic Disorder
Gilles de la Tourette's Syndrome also known as Gilles de la Tourette's Disease
Guinon's Myospasia Impulsiva
Habit Spasms
Maladie de Tics
Passing Tics of Childhood also known as Transient Tics of Childhood
Tourette Disorder
Tics
TS
Information on the following diseases can be found in the Related Disorders section of this report:
Chronic Tics
Transient Tics of Childhood
Huntington's Disease
Sydenham's Chorea
Wilson's Disease
Benign Essential Blepharospasm
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tourette Syndrome is a neurologic movement disorder that is characterized by repetitive motor and vocal tics. Symptoms may include involuntary movements of the extremities, shoulders, face and the voluntary muscles, with uncontrollable, inarticulate sounds and sometimes inappropriate words. Tourette Syndrome is not a progressive or degenerative disorder; rather, symptoms tend to be variable and follow a chronic waxing and waning course throughout an otherwise normal life span.
Symptoms
Tourette syndrome usually begins in childhood with a twitch (tic) of a facial muscle. A tic is an involuntary repetitive muscle movement. These tics usually appear as excessive eye blinking, nose twitching, or grimacing. Other gestures may include involuntary head shaking, shoulder jerking, arm flapping, foot stomping or the uncontrollable imitation of another person's movements. In some very severe cases some patients may have self-mutilating symptoms.
The sounds produced can be inarticulate and meaningless, such as repeated throat clearing, grunts, barks, screams or sniffing. They can include words. The repetition of obscene words (coprolalia) occurs in approximately 30 percent of all patients. Involuntary repetition of a word or sentence spoken by the patient or another person (palilalia or echolalia) may also occur.
Tics may subside when the patient is concentrating on a particular task, but intensify during stress. Over periods of months to years some symptoms may disappear and be replaced by new tics; or new symptoms may be added to old ones.
Causes
Seventy percent of Tourette Syndrome cases appear to be genetic, inherited as an autosomal dominant trait, although an X-linked Tourette modifier gene has been described. Research suggests that there may be a biochemical imbalance of neurotransmitter systems in the brain that causes the symptoms of Tourette Syndrome.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.
In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers of an X-linked disorder, but never to their sons. Women who are carriers of an X-linked disorder have a 50 percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk if transmitting the disease to their sons.
The effect of gene penetrance is suggested by the high occurrence of first-degree relatives with mild tic conditions in families with Tourette syndrome. Some relatives may have chronic tics, while others may not display any tics but exhibit obsessive-compulsive behaviors, which research indicates are frequently associated with Tourette syndrome.
Genetic studies suggest that only about 10 percent of affected Tourette syndrome relatives have symptoms severe enough to interfere with normal, daily living. The chance of an affected parent having a child with Tourette syndrome symptoms has been estimated to be approximately 40 to 50 percent. In many cases, however, the child will have a mild form of the syndrome, although severity of symptoms currently cannot be predicted.
Affected Population
Tourette syndrome begins in childhood typically between the ages of 2 and 16 years. There are rare cases with later onset as well as symptoms appearing as early as one year. The male:female ratio is 3:1. Tourette syndrome occurs in all nationalities and across all economic groups. The National Institute of Health estimates approximately 100,000 cases of Tourette Syndrome in the United States, although the prevalence may be much higher if all mild cases are counted.
Related Disorders
Symptoms of the following disorders can be similar to those of Tourette Syndrome. Comparisons may be useful for a differential diagnosis:
Chronic Tics begin in childhood, or after the age of forty. Usually either motor or vocal tics are present, not both, and are more limited than in Tourette syndrome.
Transient Tics of Childhood are common among elementary school children. These motor tics usually disappear within one year.
Huntington's Disease (Huntington's Chorea) is an inherited disease (autosomal dominant) that affects the neurological system. It is progressive and degenerative. This condition initially produces the ceaseless occurrence of jerky and rapid movements that appear to be well coordinated but are actually involuntary. Personality changes also occur, eventually leading to dementia. Symptoms usually begin during adulthood after the age of forty. (For more information on this disorder choose "Huntington's Disease" as your search term in the Rare Disease Database).
Sydenham's Chorea is an acute, usually self-limited disorder that occurs after about 5 to 10 percent of cases of rheumatic fever. Patients develop rapid, involuntary movements that can affect the manner or style of walking, arm movements and speech. Clumsiness and facial grimacing are common. (For more information on this disorder choose "Sydenham's Chorea" as your search term in the Rare Disease Database).
Wilson's Disease (Hepatolenticular Degeneration) is a rare genetic disorder characterized by excess copper in various body tissues, particularly the liver, brain and eyes. Eventually there is central nervous system dysfunction. Early diagnosis and treatment can prevent long-term disabilities. Neurologic symptoms are usually first seen between the ages of 12 and 32 years. These may include jerky movements, drooling, speech difficulties, lack of coordination, tremor, muscle rigidity and double vision. Other signs include kidney stones, joint disorders and heart problems. (For more information on this disease choose "Wilson's Disease" as your search term in the Rare Disease Database).
Benign Essential Blepharospasm is a disorder in which the muscles surrounding the eyelids (orbiculares oculi) do not function properly. Contractions or spasms of the muscles around the eyes occur. These contractions cease and then return intermittently. Although the eyes themselves are not affected, the patient may eventually become functionally blind due to the inability to open the eyelids. Approximately two-thirds of patients also have a general lack of facial muscle tone. About one-third of patients experience involuntary trembling (tremors). However, this disorder usually appears during middle age. (For more information on this disorder choose "Benign Essential Blepharospasm" as your search term in the Rare Disease Database).
Therapies: Standard
Low doses of the drug haloperidol (Haldol) help suppress the symptoms of Tourette Syndrome in many cases. Side effects often limit the use of this drug.
Clonidine (Catapres), approved by the FDA for treatment of hypertension, appears to be effective on motor, vocal, and behavioral symptoms in approximately 50 percent of Tourette patients.
Pimozide (Orap) is an approved orphan drug with Dopamine D-2 blocking action. Pimozide is reported to be as effective as Haldol with fewer side effects in the majority of Tourette patients. Other dopamine blocking drugs (i.e., prolixin) are also used to reduce Tourette symptoms.
Supportive psychotherapy may be indicated to foster the patient's adjustment to this chronic, socially crippling disorder.
Therapies: Investigational
Research is ongoing in the areas of neurotransmitters, drugs, and genetics of Tourette syndrome.
Studies are underway on drugs that treat the obsessive-compulsive symptoms of Tourette Syndrome including clomipramine and prolixin.
Additionally, geneticists have identified several large families with many members affected by Tourette Syndrome. Studies of these families will hopefully lead to identification of the gene that causes this disorder, and ultimately to new treatments.
This disease entry is based upon medical information available through August 1992. Since NORD's resources are limited it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the resources section for the most current information about this disorder.
Resources
For more information on Tourette Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Tourette Syndrome Association
42-40 Bell Blvd.
Bayside, NY 11361
(718) 224-2999
(800) 237-0717
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
For information on genetics and genetic counseling referrals, please contact:
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
March of Dimes Birth Defects Foundation
1275 Mamaroneck Ave.
White Plains, NY 10605
(914) 428-7100
References
CECIL TEXTBOOK OF MEDICINE, 19th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1990. Pp. 2137.
MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 270.
TOURETTE'S SYNDROME AND TIC DISORDERS, CLINICAL UNDERSTANDING AND
TREATMENT, Donald J. Cohen, et al., eds., John Wiley and Son, Inc., 1988.., 1988.
Tourette Syndrome
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$b$Copyright (C) 1990 National Organization for Rare Disorders, Inc.
823: Townes-Brocks Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Townes-Brocks Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Townes Syndrome
Anus, Imperforate, with Hand, Foot and Ear Anomalies
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs
Information on the following disorders can be found in the Related Disorders section of this report:
Imperforate Anus
VACTERL Association
REAR Syndrome
Holt-Oram Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Townes-Brocks Syndrome is a rare genetic disorder present at birth. Symptoms of the disorder and the severity of these symptoms vary from person to person. Major characteristics may include an absence of an anal opening in association with hand, foot and ear abnormalities. Hearing loss or deafness due to lesions or dysfunctions of part of the internal ear or its nerve tracts and centers (sensorineural hearing loss or deafness) is present in some patients.
Symptoms
Townes-Brocks Syndrome is a rare genetic disorder. Characteristics of this disorder are present at birth and vary from person to person both in type and severity.
ABNORMALITIES OF THE FACE AND EARS
One side of the face may be smaller than normal (hemifacial microsomia) in individuals with Townes-Brocks Syndrome. External ears can be abnormally large, poorly-formed, or abnormally small (microtia, hypoplastic ears). There may be excess tags of flesh in front of the ears (preauricular protuberances or tags). Hearing loss or deafness due to lesions or dysfunctions of part of the internal ear or its nerve tracts and centers (sensorineural hearing loss or deafness) is present in some patients.
ABNORMALITIES OF THE HANDS AND FEET
Thumbs of Townes-Brocks Syndrome patients may be smaller than normal (hypoplastic) or may appear to look more like a finger than a thumb. There may be an extra joint or bone in the thumb (triphalangeal thumb) and/or an extra thumb or finger (hexadactyly). Other hand and foot malformations may occur as well. There may be webbing between two or more fingers or toes (syndactyly). Fusions of bone may be present in the wrist. In the feet, fusion of the long bones (metatarsals) may occur, and/or these bones may be shorter than average. Some bones may be absent. The third toe may be missing or underdeveloped (hypoplastic). The fifth toe, or one or more of the fingers of the hand, may be malformed (clinodactyly).
ANAL ABNORMALITIES
In most patients with Townes-Brocks Syndrome, there is an absence of an anal opening (imperforate anus). Abnormal passages from hollow organs to the body surface or to another organ (fistulas), such as between the rectum and genitals (rectovaginal fistula or rectoperineal fistula), may be present. In some patients, abnormal placement of the anus can occur, and/or the anus may be constricted or smaller than normal (stenosis). Other abnormalities such as abnormal ridges of the genitals (perineal raphe) can also occur.
RENAL ABNORMALITIES
Underdeveloped kidneys (renal hypoplasia) or other related abnormalities (urorenal anomalies) can occur. Sometimes urine which is supposed to flow from the kidneys to the bladder flows backward (ureterovesical reflux).
OCCASIONAL ABNORMALITIES
Other characteristics of Townes-Brocks Syndrome can include indentations in front of the ears (preauricular pit), and/or heart (cardiac) defects. Part of the small intestine may be narrowed or occluded (duodenal atresia). Females may develop cysts in the ovary (cystic ovary). In the male there may be an opening located on the underside of the penis (hypospadias); in the female the urethra may open into the vagina.
Causes
Townes-Brocks Syndrome is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.
Affected Population
Townes-Brocks Syndrome is an extremely rare disorder present at birth. It affects males and females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Townes-Brocks Syndrome. Comparisons may be useful for a differential diagnosis:
Imperforate Anus is a rare abnormality characterized by the absence or abnormal localization of the anus present at birth. The rectum or the colon may be connected to the vagina or the bladder by a tunnel (fistula). With surgical correction, normal elimination can become possible. Imperforate Anus can occur alone or as a symptom of another disorder. (For more information on this disorder, choose "imperforate anus" as your search term in the Rare Disease Database).
VACTERL Association is an acronym for (V)ertebral anomalies, (A)nal atresia (absence of a normal anal opening), congenital (C)ardiac disease, (T)racheo(E)sophageal fistula (abnormal openings or passages between the windpipe and upper digestive tract), (R)enal anomalies, radial dysplasia, and other (L)imb defects. Abnormalities are present at birth. Symptoms occur in various combinations and can be manifestations of several recognized disorders.
REAR Syndrome is an acronym for (R)enal anomalies, deformed external (E)ars and perceptive deafness, (A)nal stenosis, and (R)adial dysplasia. Underdeveloped kidneys are the most common renal abnormalities. The external ears are abnormally developed and deafness is present at birth. The anus is constricted or smaller than normal and other anal abnormalities can also occur. Abnormal tissue development is present in the area of the bone in the forearm (radius). (For more information on these disorders, choose "VACTERL" as your search term in the Rare Disease Database).
Holt-Oram Syndrome, also known as Atriodigital Dysplasia or Heart-Hand Syndrome, is a genetic disorder comprised of atrial septal defect in association with hand and forearm deformities. (For more information on this disorder, choose "Holt" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Townes-Brocks Syndrome often includes surgery for malformations associated with this syndrome. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through November 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Townes-Brocks Syndrome, please contact:
National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
Hemifacial Microsomia Family Support Network
84 Glennifer Hill Rd.
Richboro, PA 18954
(215) 364-3199
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 8th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 69.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Co., 1988. Pp. 218-219.
A NEW FAMILY WITH THE TOWNES-BROCKS SYNDROME. M. A. de Vries-Van der Weerd, et al.; Clin Genet (Sep 1988; issue 34 (3)). Pp. 195-200.
PHENOTYPIC VARIABILITY IN TOWNES-BROCKS SYNDROME. J. Monteiro de Pina-Neto; Am J Med Genet (May 1984; issue 18 (1)). Pp. 147-152.
TOWNES-BROCKS SYNDROME. REPORT OF A CASE AND REVIEW OF THE LITERATURE.
F. G. Ferraz, et al.; Ann Genet (1989; issue 32 (2)). Pp. 120-123.
TOWNES SYNDROME. A DISTINCT MULTIPLE MALFORMATION SYNDROME RESEMBLING
VACTERL ASSOCIATION. J. H. Hersh, et al.; Clin Pediatr (Phila) (Feb 1986; issue 25 (2)). Pp. 100-102.
Townes-Brocks Syndrome
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Copyright (C) 1986, 1992 National Organization for Rare Disorders, Inc.
134: Toxic Shock Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of this article (Toxic Shock Syndrome) is not the name you expected. Please check the SYNONYM listing to find alternate names and disorder subdivisions covered by the article.
Synonyms
TSS
Information on the following disorder may be found in the Related Disorders section of this report.
Group A Beta-Hemolytic Strep
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section.
Toxic Shock Syndrome (TSS) is a potentially fatal syndrome characterized by high fever, vomiting, diarrhea, confusion, and skin rash. It is almost always associated with the use of vaginal tampons and is a bacterial infection. Only about five percent of the cases occur in men or people who do not use tampons.
Symptoms
Symptoms of Toxic Shock Syndrome appear very suddenly. Initially, there is a fever of 102 to 105 degrees F, headache, sore throat, and conjunctivitis. Other early symptoms include profound lethargy, periods of disorientation, vomiting, severe diarrhea, and a diffuse sunburn-like rash leading to sloughing of skin after several days. In severe cases, the syndrome may progress to shock (dangerously low blood pressure and circulatory collapse) within forty-eight hours.
Anemia and other abnormalities of the blood, abnormalities of kidney function, hepatitis, deterioration of skeletal muscle, and involvement of the lung and heart may occur during the first week of illness.
Eighty-five to ninety-two percent of those affected survive TSS, although this may be inaccurate due to the diagnosis of only the more severe cases. Women who continue to use tampons during the first few months after illness risk a recurrence unless they have been successfully treated with antibiotics.
Causes
Toxic shock syndrome seems to be caused by a strain of Staphylococcus aureus bacteria which releases toxic substances which are absorbed by the patient. Mechanical and chemical factors associated with the use of menstrual tampons are thought to facilitate the production of bacterial toxin which enters the bloodstream via small wounds in the mucosa or through the uterus to the abdominal cavity.
Recent scientific studies suggest that polyester foam and fibers, contained in some types of tampons, soak up a large amount of magnesium, which is normally present in vaginal tissue and fluid. When the magnesium is removed from the bacterium's environment, the bacteria responds by manufacturing quantities of the deadly toxin.
Some manufacturers of tampons have withdrawn products containing polyacrylate rayon from the market and replaced them with safer, though somewhat less absorbent versions.
Affected Population
Primarily at risk for Toxic shock syndrome are women between the ages of thirteen and fifty who have a preexisting vaginal colonization of Staphylococcus aureus and who use tampons continuously during their menstrual periods. However, the syndrome has occurred in children as young as eight years old, as well as in men. The incidence is estimated to be 3 cases per 100,000 menstruating women.
As of June 1, 1985, 262 cases of Toxic shock syndrome (TSS) with onset during 1984 had been reported to the Centers for Disease Control in Atlanta, GA. This brings to 2,815 the total number of cases that have been reported since 1980. Of these, 2,669 cases were in females, and 146 were in males. Cases have been reported from all fifty states. Nonmenstrual TSS accounted for twenty-seven percent of the reported 1984 cases, up from seven percent in 1980. TSS continues to be reported primarily among caucasian non-Hispanic women.
Related Disorders
A syndrome affecting children with "Toxic Shock" like symptoms has become more prevalent since first being reported in 1984. Invasive Group A Beta-Hemolytic Strep has doubled in children being treated in the past 3 years. Infections of the skin and respiratory tract are most common.
Therapies: Standard
Lactamase resistant penicillin or cephalosporins are recommended. Patients with Toxic Shock Syndrome should be hospitalized, as they are likely to need intensive supportive care to prevent circulatory collapse. Large amounts of fluid and electrolytes (salts) may be necessary.
Other preventive measures are uncertain. Women should consider avoiding or using tampons only intermittently during the menstrual period. Avoidance of maximum absorbency tampons is advised. (For more information, see the Cause section).
According to the latest Food and Drug Administration report, the use of the vaginal contraceptive sponge is relatively safe. While 12 cases of sponge-related toxic shock have been confirmed out of the estimated 600,000 women who regularly use the device, none of the cases have been fatal. However, women who use this product are cautioned to carefully follow the package instructions in order to minimize their own risk. The sponge should not be worn for more than 30 hours continuously, it should not be used if the woman is menstruating, and another method of contraception should be used for 6 to 12 weeks following the birth of a baby. If any problems develop, medical attention should be sought immediately.
Therapies: Investigational
This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Toxic Shock Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
(404) 639-3534
References
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 72.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1598, 2323.
APPARENT INCREASE IN THE INCIDENCE OF INVASIVE GROUP A BETA-HEMOLYTIC
STREPTOCOCCAL DISEASE IN CHILDREN., L.B. Givner, J. Pediatr (March, 1991, issue 18). Pp. 341-346.
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Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.
538: Toxocariasis
_________________________
** IMPORTANT **
It is possible that the main title of the article (Toxocariasis) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Visceral Larva Migrans (VLM)
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Toxocariasis is an infectious disorder caused by a worm parasite. It principally affects people in close contact with dogs or cats that carry these ascarid worm eggs.
Symptoms
Symptoms of Toxocariasis may include fever, nodular skin eruptions, coughing, wheezing and weight loss. Loss of appetite (anorexia), abdominal pain, seizures, cranial nerve palsies, blindness, liver and spleen enlargement and difficulty breathing may also occur.
Causes
Toxocariasis is caused by contact with the larvae of the toxocara worm which infects dogs and cats. Humans become infected when the larvae are ingested and travel through the circulatory system. These parasites invade the liver, lungs, brain and eyes. The dying larvae cause worsening inflammation which may result in complications, especially in the eyes. This may sometimes require the surgical removal of the gelatinous substance behind the eyeball (Pars plana vitrectomy).
Affected Population
Toxocariasis affects males and females in equal numbers. It is most common in young children from the south central or southeastern U.S.A. who play with infected pets.
Therapies: Standard
Toxocariasis infection is treated with the drugs Mintezol which is useful for reducing respiratory symptoms and corticosteroids which decreases the inflammation. Other treatment is symptomatic and supportive. The deworming of puppies, limiting exposure to nursing dogs, washing of hands after handling pets and preventing the eating of dirt by children is important in reducing the chance of Toxocara infection.
Therapies: Investigational
The ELISA (enzyme-linked immunosorbent assay) test is proving to be a sensitive and specific test for diagnosis of Toxocariasis infection. This procedure is being used on an experimental basis but may become a standard test in the future.
This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Toxocariasis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Institute of Allergy & Infectious Diseases
Office of Public Information
9000 Rockville Pike
Bethesda, MD 20892
Centers for Disease Control
Office of Public Inquiries
1600 Clifton Road NE
Atlanta, GA 30333
(404) 639-3534
References
SEROLOGIC AND INTRADERMAL TEST FOR PARASITIC INFECTIONS. D. A. Bruckner, Pediatr Clin North Am (August, 1985; issue 32 (4)). Pp. 1063-1075.
HUMAN TOXOCARIASIS. REVIEW WITH REPORT OF A PROBABLE CASE. P. D. Morris, et al.; Postgrad Med (January, 1987; issue 81 (1)). Pp. 263-267.
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1801-1802.
Toxocariasis;
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*Copyright (C) 1986, 1987, 1988, 1989, 1993 National Organization for Rare Disorders, Inc.
268: Toxoplasmosis
_________________________
** IMPORTANT **
It is possible the main title of the article (Toxoplasmosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
DISORDER SUBDIVISIONS
Lymphadenopathic Toxoplasmosis
Disseminated Toxoplasmosis
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Toxoplasmosis is an infectious disease that can be caused by contact with a microscopic parasitic organism called Toxoplasma gondii. This parasitic infection, found worldwide, can be either acquired or be present at birth (congenital). The congenital type is a result of a maternal infection during pregnancy which is transmitted to the fetus, and involves lesions of the central nervous system. These lesions may lead to blindness, brain defects and more serious conditions. The disorder may be most severe when it is transmitted to the fetus during the second through sixth month of pregnancy. Twenty percent to 80% of those affected will show the presence of toxoplasmosis antibodies when tested.
The acquired form includes these two types of Toxoplasmosis: 1) Lymphadenopathic Toxoplasmosis is a form of the disorder which resembles mononucleosis. 2) Disseminated Toxoplasmosis is a form of the disorder in which lesions involve chiefly the lungs, liver, heart, skin, muscle, brain, and spinal chord membranes (meninges). It is characterized by inflammation of the lungs (pneumonitis), hepatitis, inflammation of the muscular walls of the heart (myocarditis), and inflammation of the brain and meninges (meningoencephalitis), all in varying degrees.
The prognosis for the acquired disease (when of moderate severity) is usually good with treatment, and commonly subsides without complications. If untreated, this infection may persist for many months, and can cause blindness. It is rarely fatal in adults.
Symptoms
Symptoms of Toxoplasmosis may be severe, rapidly appearing, or there may be no symptoms at all:
1) The more common mild form, which may resemble infectious mononucleosis, is characterized by a disease of the lymph nodes in the neck and armpit area (cervical and axillary lymphadenopathy), a vague feeling of discomfort (malaise), muscle pain and irregular low fever. Mild anemia, hypotension, reduction of total white blood cells (leukopenia), elevation of lymphoid white blood cell count (lymphocytosis), and slightly altered liver function may also occur. More commonly, it is a neck area lymph node disorder involving no other obvious symptoms (asymptomatic cervical lymphadenopathy).
2) In some cases the disorder may be an acute, suddenly occurring, disseminated infection that affects primarily those people who seem to have a reduced ability to fight infection. This is usually characterized with a rash, high fever, chills, and prostration. Some patients may develop inflammation of the lungs (pneumonitis), liver (hepatitis), muscular walls of the heart (myocarditis), and possibly inflammation of the brain and possibly meninges (meningoencephalitis).
3) Chronic toxoplasmosis, which causes severe inner eye inflammation (retinochoroiditis or posterior uveitis), may be marked by muscular weakness, weight loss, headache, and diarrhea. Symptoms are usually vague and indefinite making proper diagnosis difficult.
In some cases of toxoplasmosis, confusion and headaches may be the primary symptoms.
In the neonatal congenital type of toxoplasmosis, features can be variable. Spontaneous abortion (miscarriage) may ensue if the infection occurs early in pregnancy. Infection later in pregnancy may result in miscarriage or stillbirth, or in the birth of a living child with the disease.
Symptoms of subacute toxoplasmosis infection may begin shortly after birth, but more often appear months or several years later. Central nervous system (CNS) disorders such as hydrocephalus, microcephaly, intracranial calcifications, and mental retardation may occur. Skin rashes, enlargement of the liver and spleen (hepatosplenomegaly), jaundice and inflammation of the choroid and retina of the eye (chorioretinitis) may also be present.
Inflammation of the choroid and retina (chorioretinitis) usually accompanies the congenital form and may occur in the acquired forms. Chronic disease with relapses can continue to occur in patients who survive the subacute phase. Abdominal organ (visceral) lesions, aside from those in the liver, are unusual and tend to heal more readily than the central nervous systems lesions.
Causes
Toxoplasmosis is an infectious disease which may be either congenital or acquired. Several modes of transmission may occur and must be guarded against. These include a parasite carried by birds and certain mammals, notably cats, cattle, swine, sheep, rabbits, and dogs. The disorder may also be transmitted by consumption of under-cooked meat containing the parasitic organisms (cysts), or by contact with cat feces containing the encapsulated organisms (oocysts). Care must be taken when cleaning the litter boxes of infected cats as inadvertent hand-to-mouth contact with the parasite may occur. There is also evidence that the infection can be acquired through inhalation of the dust arising when cleaning the litter. However, with proper hygienic precautions, infection is very unlikely. Flies and/or cockroaches may possibly transport the oocysts to human food. In a human host, the infection may possibly represent a reactivation of the latent disease.
The congenital type of toxoplasmosis is due to the infection being contracted during pregnancy and passed on to the fetus. In particular, contact with cats and cat feces during pregnancy must be avoided in particular to control this occurrence.
Affected Population
Toxoplasmosis affects men and women in equal numbers world wide. The occurrence rate in infants is 0.25 - 5.0 per 100,000 live births. This disorder also may cause many abortions and still births in areas of the world where the disorder may be more prevalent.
Approximately 40% of children with Toxoplasmosis become infected in the womb because of maternal infection during pregnancy. Of these children, 15% have severe symptoms and 19% have mild symptoms. Fetal damage is most likely when the infection occurs during the second to the sixth month of gestation. The majority of children born with Toxoplasmosis have no symptoms at birth, but show evidence of damage several months to years later. The most common abnormalities are eye disease and low I.Q. The estimated frequency of Toxoplasmosis during pregnancy is 1.1 cases per 1,000 pregnant women. However, maternal Toxoplasmosis acquired a month or longer before the pregnancy is rarely transmitted to the fetus.
Related Disorders
Hepatitis is an infectious liver disorder which may be caused by exposure to a large variety of infectious agents or substances. Which type of hepatitis a patient may have is usually determined by the cause. When hepatitis is caused by toxoplasmosis, the liver and spleen are usually involved. (For more information on this disorder, choose "Hepatitis" as your search term in the Rare Disease Database.)
Encephalitis encompasses a large group of viral infections of the brain with a variety of neurological symptoms which depend on the infectious agent. Encephalitis in conjunction with toxoplasmosis appears to be transmitted by the same carrier.
Therapies: Standard
Acute Toxoplasmosis of newborns, pregnant women, and patients who have had their immune response diminished should be treated with antibiotics such as trisulfapyrimidines or sulfadiazine, plus pyrimethamine for three to four weeks. The toxicity of pyrimethamine can be minimized with the daily administration of folinic acid. Since pyrimethamine can produce deformities in animal fetuses, sulfonamides alone should be used in pregnant women who are treated for toxoplasmosis.
Some patients with Toxoplasmosis do not require specific therapy unless a vital organ such as the eyes, brain, or heart is involved, or if other symptoms are severe and persistent. Corticosteroids are often useful in these situations to control inflammation. Periodic blood counts may be obtained during therapy to monitor the toxicity of drugs used for treatment of this disorder.
Since sulfadiazine is no longer manufactured in the United States, patients can receive the drug through the Centers for Disease Control (CDC). To request sulfadiazine, contact CDC's Division of Parasitic Diseases, National Center for Infectious Diseases, (404) 488-4928.
Therapies: Investigational
The Food and Drug Administration (FDA) has awarded a research grant to Rima McLeod, M.D., Michael Reese Hospital & Medical Center, Chicago, IL, for comparison studies on treatments for congenital Toxoplasmosis. Included in the studies are the experimental drugs pyrimethanine sulfadiazine, spiramycin, and pyrimethamin sulfadoxine.
Research on Toxoplasmosis is ongoing in many parts of the world. For information on the latest developments in this research, please contact:
Centers for Disease Control
1600 Clifton Rd. NE
Atlanta, GA 30333.
(404) 639-3534
For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database.
This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Toxoplasmosis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Toxoplasmosis Interest Group
52 Edgell Street
Gardner, Mass. 01440
(617) 632-7783
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
(404) 639-3534
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
References
MERCK MANUAL OF DIAGNOSIS AND THERAPY: Robert Berkow, et al., eds; Merck Sharp & Dohme Research Laboratories, 1982. P. 24.
Toxoplasmosis
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Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc.
385: Tangier Disease
_________________________
** IMPORTANT **
It is possible the main title of the article (Tangier Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Familial Alpha-Lipoprotein Deficiency
Alphalipoproteinemia
Familial High-Density Lipoprotein Deficiency
Analphalipoproteinemia
Alpha High-Density Lipoprotein Deficiency
Information on the following disease can be found in the Related Disorders section of this report:
Acanthocytosis
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high density lipoproteins. Large amounts of these compounds may accumulate in certain organs of the body causing tissue discoloration. In later stages, these accumulations may cause organ enlargement and/or blood circulation problems.
Symptoms
Tangier Disease is a slowly progressive disorder initially characterized by enlarged orange or yellowish-gray tonsils. This same discoloration may be found in other parts of the throat and/or rectum. In time, the liver, spleen and lymph nodes may become enlarged. Brain dysfunction, loss of tendon reflexes and coronary artery disease may also occur. In some cases, small solid elevated skin lesions (papules) may appear.
Causes
Tangier Disease is inherited as an autosomal recessive trait. The absence of normal amounts of high density lipoproteins (HDL) in the blood cause symptoms of this disorder. High density lipoproteins are fat-carrying components of the blood containing relatively low levels of fatty acids and high levels of proteins.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.
Affected Population
Tangier Disease is thought to be present at birth but without noticeable symptoms. It usually is diagnosed during later childhood or adulthood. Only twenty known cases in the world were documented between 1967 and 1977, although the primary reason for this small number may be misdiagnosis and a low level of the recognition of symptoms. This disorder was first identified in the inbred population of Tangier Island in Chesapeake Bay, Maryland, and later in Missouri and Kentucky. However, it may possibly be spreading to other countries.
Related Disorders
Acanthocytosis, also known as Bassen-Kornzweig Syndrome, is inherited as a recessive trait and can often be found in inbred populations. This disorder is marked by the absence of low density lipoproteins and excretion of fat in stools (steatorrhea). Other features of Acanthocytosis may include abnormal red blood cells (acanthocytes), retinitis pigmentosa, ataxia and mental retardation. Absorption of fat is markedly impaired. Massive doses of Vitamins E and A may delay or retard the neurologic complications. (For more information choose Acanthocytosis", "RP" and "ataxia" as your search terms in the Rare Disease Database).
Therapies: Standard
Treatment of Tangier Disease is symptomatic and supportive. Genetic counseling may be of benefit to families of patients with this disorder. Surgical removal of the spleen may become necessary in some cases if the spleen is enlarged.
Therapies: Investigational
This disease entry is based upon medical information available through February 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tangier Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon St, Rm. 304
Brookline, MA 02164
(617) 277-4463 or 277-3965
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
ANALYTICAL CAPILLARY ISOTACHOPHORESIS: A ROUTINE TECHNIQUE FOR THE ANALYSIS
OF LIPOPROTEINS AND LIPOPROTEIN SUBFRACTIONS IN WHOLE SERUM: U. Borgmann, et al.; J Chromatogr (Feb. 22, 1985, issue 320(1)). Pp. 253-62.
JAPANESE ADULT SIBLINGS WITH TANGIER DISEASE AND STATISTICAL ANALYSIS OF
REPORTED CASES: K. Fujii, et al.; Tokai J Exp Clin Med (Dec. 1984, issue 9(5-6)). Pp.379-387.
TANGIER DISEASE. A HISTOLOGICAL AND ULTRASTRUCTURAL STUDY: P.
Dechelotte, et al.; Pathol Res Pract (Oct. 1985, issue 180(4)). Pp. 424-430.
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Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
493: Tardive Dyskinesia
_________________________
** IMPORTANT **
It is possible the main title of the article (Tardive Dyskinesia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Tardive Dystonia
Oral-facial Dyskinesia
Linguofacial Dyskinesia
Tardive Oral Dyskinesia
TD
Information on the following diseases can be found in the Related Disorders section of this report:
Tourette Syndrome
Huntington Disease
Cerebral Palsy
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tardive Dyskinesia (TD) is an involuntary movement disorder resulting from use of neuroleptic drugs which are used to control psychiatric or gastrointestinal problems. Long-term use of these drugs may produce biochemical abnormalities in the area of the brain known as the striatum.
Symptoms
Tardive Dyskinesia is characterized by involuntary and abnormal movements of the jaw, lips and tongue. Typical symptoms include grimacing, sticking out the tongue, sucking or fish-like movements of the mouth. In some cases, the arms and/or legs may be affected by involuntary rapid, jerking movements (chorea), or slow, writhing movements (athetosis).
Causes
Tardive Dyskinesia is caused by long-term use of neuroleptic drugs. Neuroleptic drugs are often prescribed for management of certain mental, neurological, or gastrointestinal disorders.
Affected Population
Tardive Dyskinesia affects individuals who have been taking neuroleptic drugs for a long period of time. A high percentage of schizophrenic people who have spent long periods of time in mental hospitals have a high risk of developing TD.
Related Disorders
Symptoms of the following disorders can be similar to those of Tardive Dyskinesia. Comparisons may be useful for a differential diagnosis:
Huntington Disease (also known as Huntington's Chorea) is an inherited neurological illness. Those affected experience involuntary movements, loss of motor control, changes in gait, loss of memory, and in some cases, dementia. In general, the first symptoms of HD appear between thirty and fifty years of age. HD runs a progressive course, severely weakening patients usually over a ten to twenty year period, whereas there is no degeneration in Tardive Dyskinesia. (For more information on this disorder, choose "Huntington" as your search term in the Rare Disease Database.)
Cerebral Palsy is a disorder characterized by impaired muscle control or coordination (motor output system) resulting from injury to the brain during its early stages of development (the fetal, perinatal, or early childhood stages). There may be associated problems with sensory input, such as vision or hearing defects, central processing (such as communication), intellectual or perceptual deficits, and/or seizures. People with CP can have slow facial and tongue movements, which may resemble TD. (For more information on this disorder, choose "Cerebral Palsy" as your search term in the Rare Disease Database).
Tourette Syndrome is a neurological movement disorder which begins in childhood between the ages of two and sixteen. The disorder is characterized by involuntary muscular movements called "tics", and uncontrollable vocal sounds. Sometimes inappropriate words may unavoidably be spoken. Tourette Syndrome is not a degenerative disorder and those affected can expect to live a normal life span. Neuroleptic drugs such as haloperidol and pimozide can be prescribed as treatments for TS, so it may be difficult to determine whether facial and tongue movements in TS patients are caused by the disorder or the drugs.
Therapies: Standard
Treatment of Tardive Dyskinesia initially consists of discontinuing the neuroleptic drug as soon as involuntary facial movements are noticed in psychotic patients. In some cases, physicians may decide to reinstitute the drug if the TD symptoms do not disappear and if they are very severe.
Therapies: Investigational
Vitamin E is being used experimentally to treat Tardive Dyskinesia. Participants in this study must have moderate to severe persistent Tardive Dyskinesia and be between eighteen and seventy years of age. Patients of all psychiatric diagnoses will be considered for admission to the four month study. For more information, physicians with patients interested in this research project should contact:
Denise Juliano, MSW
Coordinator of Admissions
Neuropsychiatric Research Hospital
2700 Martin Luther King Jr. Avenue, SE
Washington, DC 20032
(202) 373-6100
Many experimental drugs are being tested to reduce or eliminate the symptoms of Tardive Dyskinesia. For more information about these studies, please contact the agencies listed in the Resources section of this report.
This disease entry is based upon medical information available through July 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tardive Dyskinesia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Association for Tardive Dyskinesia
1206 E. Pike St.
Seattle, WA 98122
NIH/National Institute of Mental Health (NIMH)
9000 Rockville Pike
Bethesda, MD 20205
(301) 443-4515 or (301) 496-1752
(800) 421-4211 (24 hrs.)
Dystonia Medical Research Foundation
One E. Wacker Dr., Suite 2900
Chicago, IL 60601-2001
(312) 755-0198
National Mental Health Association
1021 Prince Street.
Alexandria, VA 22314
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2160.
DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS, 3rd ed.: American Psychiatric Association, 1984. Pp. 76-77.
SUPPRESSION OF TARDIVE DYSKINESIA WITH AMOXAPINE: CASE REPORT: D.A.
DMello, et al.; J Clin Psychiatry (March 1986, issue 47(3)). Pp. 148.
FACIAL DYSKINESIA: J. Jankovic, et al.; Adv Neurol (1988). P. 49.
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Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
370: Tarsal Tunnel Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Tarsal Tunnel Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Posterior Tibial Nerve Neuralgia
Information on the following diseases can be found in the Related Disorders section of this report:
Erythromelalgia
Burning Feet Syndrome, also known as Gopalan Syndrome
Carpal Tunnel Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tarsal Tunnel Syndrome involves pressure on nerves to the foot causing pain. Persons with this disorder may notice a painful burning or tingling sensation in and around the ankles, sometimes extending to the toes. The disorder usually affects people who stand on their feet for long periods of time.
Symptoms
The initial symptoms of Tarsal Tunnel Syndrome are swelling of the feet, painful burning, tingling or numb sensations in the lower legs. Symptoms can become more intense and extend to leg muscles after standing for long periods during the day. These symptoms usually diminish with successful treatment.
Causes
Tarsal Tunnel Syndrome can be caused by a number of different conditions which can compress the tibial nerve at the ankle. Benign tumors (usually composed of fat cells), bone spurs, cysts, and inflammation of the tendon sheath may use Tarsal Tunnel Syndrome.
Affected Population
Tarsal Tunnel Syndrome can begin at any age but is usually related to activities which involve long periods of standing. This disorder seems to affect males and females in equal numbers.
Related Disorders
Erythromelalgia is a syndrome of sudden intensive dilation of blood vessels (paroxysmal vasodilation). This causes intense burning pain, increased skin temperature, and redness of the feet and, less often, the hands. (For more information on this disorder, choose "Erythromelalgia" as your search term in the Rare Disease Database).
Burning Feet Syndrome, also known as Gopalan Syndrome, is thought to be caused by a possible deficiency of a B Vitamin or pantothenic acid. Severe burning, aching and cramp-like pains in the soles of the feet (and possibly palms of the hands) can occur. Often, a sensation like pins and needles appears.
Carpal Tunnel Syndrome results from compression of the median nerve in the wrist (between the tendons of forearm muscles and the carpal ligament in the hand). This compression produces abnormal sensations in the hand plus pain in the wrist, the palm, or in the forearm. Commonly, patients feel that their hand "falls asleep" often. Carpal Tunnel Syndrome is relatively common. It may occur in one or both hands and it is seen more often in women. It often occurs in patients with acromegaly, myxedema, rheumatoid arthritis and also in people with occupations that require repeated forceful wrist flexion (e.g. carpenters). (For more information, choose "Neuropathy, Peripheral" as your search term in the Rare Disease Database).
Therapies: Standard
When the nerve of the foot is not under continuous pressure, drugs (usually in ointment form) may be useful to treat local inflammations and ease muscle pain in Tarpal Tunnel Syndrome. Immobilizing the foot or inserting a device in the shoe to reduce tension on the nerve may improve symptoms. Surgery should be reserved for cases that do not respond to more conservative treatment. This disorder can usually be treated by Orthopedic Surgeons or Podiatrists.
Therapies: Investigational
This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tarsal Tunnel Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Copyright (C) 1987, 1990, 1991 National Organization for Rare Disorders, Inc.
397: Tarui Disease
_________________________
** IMPORTANT **
It is possible the main title of the article (Tarui Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Glycogen Disease of Muscle
Glycogen Storage Disease VII
Glycogenosis Type VII
Muscle Phosphofructokinase Deficiency
Phosphofructokinase Deficiency
Information on the following diseases can be found in the Related Disorders section of this report:
McArdle Disease
Pompe Disease
Forbes Disease
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tarui Disease is a glycogen storage disease. Symptoms of this hereditary metabolic disorder are caused by a lack of the enzyme phosphofructokinase in muscle and a partial deficiency of the enzyme in red blood cells. The enzyme deficiency prevents the breakdown of glucose into energy. Tarui Disease is characterized by pain and cramps in muscles during heavy exercise.
Symptoms
Symptoms of Tarui Disease include pain and cramps in muscles during strenuous exercise. These symptoms usually are not severe.
Causes
Tarui Disease is a disorder inherited through autosomal recessive genes. The condition is caused by a deficiency of the enzyme phosphofructokinase. This enzyme normally converts fructose-6-phosphate to fructose-1,6-diphosphate. This is the controlling step in the breakdown of glucose into available energy. Therefore, energy is not available to a muscle during heavy exercise. Consequently, pain and cramps occur in the muscle.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.
Affected Population
All Glycogen Storage Diseases together affect about 1 in 40,000 persons in the United States. Tarui Disease affects males and females in equal numbers.
Related Disorders
Glycogen Storage Diseases are caused by inborn errors of metabolism in which the balance between stored energy (glycogen) and available energy (sugar or glucose) is disturbed. Too much glycogen to be stored in the liver and muscles and too little sugar available in the blood.
The following disorders are similar to Tarui Disease. These can be compared to Tarui Disease for a differential diagnosis:
McArdle Disease is a glycogen storage disease. Symptoms of this hereditary metabolic disorder are caused by an inborn lack of the enzyme myophosphorylase. This enzyme is needed for the breakdown of glycogen (the body's form of stored energy) into sugar (glucose). In McArdle Disease the breakdown of glucose cannot take place. Severe muscle cramps occur as a result of heavy exercise.
Pompe Disease is a glycogen storage disease. This hereditary metabolic disorder is caused by an inborn lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase). This enzyme deficiency causes excess amounts of glycogen (the stored form of energy that comes from carbohydrates) to accumulate in all body tissues, especially in the heart muscle.
Forbes Disease is a glycogen storage disorder inherited through autosomal recessive genes. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes excess amounts of glycogen (the stored form of energy that comes from carbohydrates) to be deposited in the liver, muscles and heart. The nerves ic the back of the legs and on the sides of the heel and foot (sural nerves) also accumulate excess glycogen. The heart may be involved in some cases.
For more information on the above disorders, choose "McArdle," "Pompe," and "Forbes" as your search terms in the Rare Disease Database.
Therapies: Standard
Treatment of Tarui Disease is symptomatic and supportive. Strenuous exercise should be avoided to prevent muscle pain and cramps.
Therapies: Investigational
Dr. Y.T. Chen at Duke University Medical Center, at the request of the Glycogen Storage Disease Association, is collecting DNA from patients with Glycogen Storage Disease Type I to form a DNA bank for GSDI. Interested patients may contact the Glycogen Storage Diseases Association for further information. The address and phone number of the organization are listed in the Resources section of this report.
This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tarui Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
(319) 785-6038
National Digestive Diseases Information Clearinghouse
Box NDDIC
Bethesda, MD 20892
(301) 468-6344
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Rd.
Crewe CW1 1XN, England
Telephone: (0270) 250244
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
EXCESS PURINE DEGRADATION IN EXERCISING MUSCLES OF PATIENTS WITH MUSCLE
GLYCOGEN STORAGE DISEASE TYPES V AND VII: I. Mineo, et al.; Journal Clin Invest (August 1985: issue 76,2). Pp. 556-560.
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'g'Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1992 National Organization for Rare Disorders, Inc.
9: Tay-Sachs Disease
_________________________
** IMPORTANT **
It is possible that the main title of the article (Tay-Sachs Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article.
Synonyms
Amaurotic Familial Idiocy
Amaurotic Familial Infantile Idiocy
Cerebromacular degeneration
GM2 Gangliosidosis, Type 1
Hexoaminidase Alpha-Subunit Deficiency (Variant B)
Information on the following diseases can be found in the Related Disorders section of this report:
Sandhoff Disease
Alper's Disease
Kufs Disease
Leighs Disease
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tay-Sachs disease is a rare inherited disorder that results in the progressive destruction of the central nervous system. The body is unable to properly metabolize certain fats (lipids) due to the absence of an enzyme (hexosaminidase A). This results in the accumulation of these fats in the brain (GM2 ganliosidosis). The disease is generally found among children of East European Jewish heritage. Sandhoff disease is another form of Tay-Sachs disease that is not limited to any particular ethnic group.
Symptoms
Tay-Sachs disease is a rare inherited disorder that results in the progressive destruction of the central nervous system. The body is unable to properly metabolize certain fats (lipids) due to the absence of an enzyme (hexosaminidase A). This results in the abnormal accumulation of these fats in the brain (GM2 ganliosidosis).
Tay-Sachs disease generally begins as mild muscle weakness with onset around 3 to 5 months of age. An abnormal startle response (a normal reflex in young infants caused by a sudden loud noise) and muscle spasms (myoclonic jerks) may also be seen at this time. Between 6 to 10 months of age further signs appear; i.e., feeding difficulties, muscle weakness (hypotonia), restlessness and vision abnormalities such as staring episodes, unusual eye movements and red circular spots in the eyes surrounded by fluid (cherry red macular spots). By the end of the first year there is increasing loss of vision.
After 12 months the child begins to regress, losing learned skills and coordination. Seizures begin and deterioration continues. Eventually the child is limp (flaccid), unresponsive and paralyzed.
Tay-Sachs disease can be detected prenatally through amniocentesis. Prospective parents can be tested to determine if they are carriers for the Tay-Sachs gene. Both the mother and the father must have the gene in order for a child to be affected (see "Causes").
Causes
Tay-Sachs Disease is a very rare disorder inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.
The gene that causes Tay-Sachs and its resulting enzyme deficiency (hexoaminidase B subunit) has been located on chromosome 5. This deficiency causes excessive storage of certain fats (gangliosides) in the central nervous system.
Affected Population
Tay-Sachs disease primarily affects children of Eastern European Jewish ancestry (Ashkenazi). Approximately 1 in 30 Ashkenazi Jews carry the gene for Tay-Sachs Disease. It is also sometimes found in some communities of Italian descent, in Irish Catholics and in non-Jewish Canadians.
Related Disorders
Symptoms of the following disorders, can be similar to those of Tay-Sachs disease. Comparisons may be useful for a differential diagnosis.
Sandhoff Disease is another form of Tay-Sachs disease. It is a severe, progressive, inherited, fat (lipid) storage disorder that leads to the destruction of the central nervous system. The first symptoms usually occur in the third to sixth month of life. These symptoms may include feeding problems, general tiredness (lethargy) and a marked "startle" response to sounds. Cherry red spots (macules) are usually seen in the eyes. (For more information on this disorder, choose "Sandhoff Disease" as your search term in the Rare Disease Database).
Alpers Disease is a rare progressive neurological disorder affecting infants and children. It is characterized by the degeneration (deterioration) of areas of the brain (cerebral gray matter). This may result in muscle disturbances, seizures, partial paralysis, jerky muscle spasms (myoclonus), blindness and growth retardation. Unrelenting seizures and mental deterioration may occur. Liver disease may also be associated with this disorder. (For more information on this disorder, choose "Alpers Disease" as your search term on the Rare Disease Database).
Kufs Disease is a very rare inherited disorder that causes an accumulation of pigmented fats in the brain (lipofuscinoses). Symptoms may include muscle weakness, lack of coordination, confusion, behavioral changes, and in some cases severe mental disturbances may occur. Kufs disease first appears in adolescents or young adults. The AB variant of Tay-Sachs disease (hexosaminidase activator deficiency) might be confused with this disorder initially. Later symptoms of Kufs disease may include large, dark, round spots on the skin (ichthyosis vulgaris). (For more information on this disorder, choose "Kufs Disease" as your search term in the Rare Disease Database).
Leigh's Disease is a severe genetic metabolic disorder that is generally diagnosed in infancy. This disease causes damage to the brain, spinal cord and optic nerve. Infants may have low body weight, slow growth and seizures. There is a progressive loss of neurological function which may result in mental retardation. (For more information on this disorder, choose "Leigh's Disease" as your search term in the Rare Disease Database).
Therapies: Standard
The treatment of Tay-Sachs disease is symptomatic and supportive. The presence of the gene that causes Tay-Sachs disease can be detected prior to birth (prenatally) by a laboratory analysis of the fluid that surrounds the fetus (amniocentesis). Prospective parents can be tested to determine if they are carriers for this disease. Pregnancies in couples at risk (both parents carriers) can be tested by amniocentesis.
Therapies: Investigational
Research is ongoing for Tay-Sachs Disease. Scientists have not yet discovered a way to replace the missing enzyme in the bodies of children with this disorder.
This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tay-Sachs Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon St., Rm. 304
Brookline, MA 02164
(617) 277-4463 or 277-3965
NIH/National Institute of Child Health and Human Development (NICHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
National Foundation for Jewish Genetic Diseases
250 Park Ave., Suite 1000
New York, NY 10177
(212) 682-5550
Tay-Sachs and Allied Diseases Association
17 Sydney Road
Barkingside, Ilford
Essex
England
01-550-8989
Dr. Roy Gravel
Montreal Children's Hospital
2300 Tupper St.
Montreal PQ H3H 1P3 Canada
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge Weston Road
Crewe CW1 1XN, England
(0270) 250244
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 149, 157, 174.
MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1198-1201.
BIOCHEMISTRY AND GENETICS OF TAY-SACHS DISEASE; Canadian Journal of Neurological Science, (Aug 1991, issue 18 (3 suppl)). Pp. 419-423.419-423.
Tay-Sachs Disease
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Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.
582: Telecanthus
_________________________
** IMPORTANT **
It is possible that the main title of the article (Telecanthus With Associated Abnormalities) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
BBB Syndrome
Hypertelorism-Hypospadias Syndrome
Dystopia Canthorum
Information on the following diseases can be found in the Related Disorders section of this report:
G Syndrome
Waardenburg Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Telecanthus With Associated Abnormalities is a very rare genetic disorder affecting the eyes and other parts of the body. Major symptoms include very widely spaced eyes (hypertelorism), urinary tract anomalies, and abnormalities in the development of the mouth and the lips.
Symptoms
Telecanthus With Associated Abnormalities is apparent at birth. The most obvious features are very widely spaced eyes that may be crossed or misaligned (strabismus) combined with a high broad nasal bridge. This may be accompanied by urinary tract deformities such as the opening of the urethra set very low on the underside of the male penis (hypospadias) or opening into the vagina of females. Often the testicles of the affected males are undescended (cryptorchidism). There may be clefting of the palate, lips and back of the mouth (uvula) and often patients show one or more congenital heart defects. There is a high rate of mental retardation among affected males.
Causes
The exact cause of Telecanthus With Associated Abnormalities is not known. It is thought to be inherited as an X-linked trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.)
Affected Population
Telecanthus With Associated Abnormalities affects males more often and more seriously than females.
Related Disorders
Symptoms of the following disorders can be similar to those of Telecanthus With Associated Abnormalities. Comparisons may be useful for a differential diagnosis:
G Syndrome is marked at birth by widely spaced eyes (hypertelorism), a broad, flat nasal bridge, neuromuscular defects of the esophagus and swallowing mechanism, and a hoarse cry. The opening of the urethra may be too low on the underside of the penis (hypospadias). Undescended testicles (cryptorchidism), a scrotum that is divided into two parts (bifid) and an anus without an opening (imperforate) may be present.
Waardenburg Syndrome is characterized by displacement of the inner folds of the eyelids, prominence of the nose, and overdevelopment of the eyebrows. The patient may have two different colored eyes or two colors in one iris of the eye. Congenital nerve deafness may also occur. A white streak of hair in the front (forelock) of the head or early greying of the hair may characterize this disorder. A thin nose with flaring nostrils, a "cupid bow" configuration of the lips, wide-set eyes, inflammation of the tear sac and drooping of the upper eyelids may occur. A lack of an indent between the nose and the forehead, prominent lower jaw and a clefted or high-arched palate may also be present. (For more information on this disorder, choose "Waardenburg" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Telecanthus With Associated Abnormalities may include reconstructive surgery to correct the spacing between the eyes as well as straightening the eyes themselves. Surgical correction of the urinary deformities as well as the cleft palate, lips and uvula may also be recommended. If heart deformities are present, surgery may be necessary. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Telecanthus with Associated Abnormalities, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Child Health & Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
Forward Face
560 First Ave.
New York, NY 10016
(212) 263-5205
(800) 422-FACE
National Craniofacial Foundation
3100 Carlisle Suite 215
Dallas, TX 75204
1-800-535-3843
FACES
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
Society for the Rehabilitation of the Facially Disfigured, Inc.
550 First Avenue
New York, NY 10016
(212) 340-5400
For Genetic Information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1458.
PHENOTYPIC OVERLAP OF THE BBB AND G SYNDROMES. J. F. Cordero, et al., Am J Med Genet (1978, issue 2 (2)). Pp. 145-152.
STUDIES OF MALFORMATION SYNDROMES OF MAN VB; THE HYPERTELORISM-HYP (BBB)
SYNDROME. CASE REPORT AND REVIEW. C. H. Gonzalez, et al., Eur J Pediatr (April, 1977, issue 125 (1)). Pp. 1-13.
THE G AND BBB SYNDROMES; CASE PRESENTATIONS, GENETICS, AND NOSOLOGY. S.
J. Funderburk, et al., Am J Med Genet (1978, issue 2 (2)). Pp. 131-144.
Telecanthus
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Copyright (C) 1986, 1988, 1989 National Organization for Rare Disorders, Inc.
296: Temporomandibular Joint Dysfunction (TMJ)
_________________________
** IMPORTANT **
It is possible that the main title of the article (Temporomandibular Joint Dysfunction) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Impostor Disease
Pain-Dysfunction Syndrome
Myofascial Pain-Dysfunction Syndrome
Costes Syndrome
Temporomandibular Joint Syndrome
TMJ
Information on the following diseases can be found in the Related Disorders section of this report:
Rheumatoid Arthritis
Tinnitus
Tetanus
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Temporomandibular Joint Dysfunction (TMJ) is a painful disorder of the jaw joint which is made worse during or after eating or yawning. It can cause limited jaw movement and clicks and pops during chewing. In severe cases pain can radiate into the neck, shoulders and back.
Symptoms
TMJ Dysfunction is characterized by painful jaw movement. The pain may also involve the eyes, ears, teeth, head, neck, shoulders and back. Sometimes there is ringing in the ears (tinnitus), dizziness and loss of equilibrium. Difficulties of movement in the jaw can result in swallowing and chewing problems. About eighty-five percent of patients feel pain on only one side usually in the temple, cheek, and front of the ear. The pain may be constant or come and go.
Causes
There are many causes of TMJ Dysfunction. Organic or systemic causes include benign or malignant tumors, rheumatoid arthritis and osteoarthritis. Functional causes include jaw displacement, breakdown of the support provided by the teeth, injury from accident or most commonly grinding of the teeth (bruxism).
The following are the most common causes of TMJ Dysfunction:
Myofascial Pain Dysfunction (MPD) Syndrome affects the chewing muscles. Muscle spasms, often caused by grinding the teeth, create facial pain that may spread to nearby muscles.
Disturbances in the joint's functioning, the most common of which is disk displacement due to stretching or tearing of the fibrous tissue attaching it to the joint capsule.
Injury problems such as jawbone dislocation from a blow during a car accident or fall. The jaw joint can be dislocated without force from outside the body, from strained opening of the mouth, for example.
Degenerative Joint Disease (Osteoarthrosis) in which fibrous and cartilage-like tissues wear away from the jaw joint . This alters movement and creates a crackling sound when the jaw moves.
Inflammatory Joint Disorders occur when membranes on the sides of the disk become inflamed due to rheumatoid arthritis.
Chronic restricted jaw movement such as fibrous ankylosis, occurs when fibrous tissue forms in the joint reducing jaw movement. Left untreated it can "freeze" the jaw.
Joint growth disorders cause the jawbone to continue to enlarge after growth should have stopped. This causes the bite and joint movements to become abnormal.
Affected Population
TMJ Dysfunction is a very common condition of adulthood which affects females three times more often than males. It is most common in women ages fifteen to forty-four.
Related Disorders
Symptoms of the following disorders can be similar to those of TMJ. Comparisons may be useful for a differential diagnosis:
Rheumatoid Arthritis is a disease of unknown origin which may have a relationship to autoimmune processes. This disorder is characterized by lack of appetite (anorexia), tiredness, painful and deformed joints, early morning stiffness chiefly in the hands, knees, feet, jaw, and spine. Once affected, a patient's joints remain painful or uncomfortable for weeks, months, or even years. (For more information on this disorder, choose "Arthritis " as your search term in the Rare Disease Database).
Tinnitus is the perception of sound such as a ringing in the ears, in the absence of an actual sound. The disorder may be caused by a variety of ear problems including obstruction, infections, Meniere's disease, certain medications and head injuries. (For more information on this disorder, choose "Tinnitus " as your search term in the Rare Disease Database).
Tetanus is an infectious disease marked by painful muscular contractions caused by the toxin tetanospasmin, acting upon the central nervous system. Tetanus can cause "Lockjaw" which freezes the jaw into a locked position.
Therapies: Standard
Treatment of TMJ Dysfunction varies according to the patients needs. It may consist of plastic bite plates to reposition or relax the jaw and muscles and reduce pressure on teeth and jaw joints. If TMJ is caused by grinding of the teeth these plastic devices often alleviate the problem. Some people wear the bite plates at night when grinding of the teeth cannot be consciously avoided. Treatment of muscle spasms may include relaxant drugs such as diazepam and analgesics for pain. Physical therapy, splints, permanent jaw adjustments or corrective dental work are also sometimes necessary.
Therapies: Investigational
Surgery is rarely used to correct TMJ Dysfunction.
This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Temporomandibular Joint Dysfunction, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The TMJ Association, Ltd.
6418 W. Washington Blvd.
Wauwatosa, WI 53213
(414) 259-9334
TMJ Booklet
American Academy of Otolaryngology Head and Neck Surgery
1101 Vermont Ave., NW, Suite 302
Washington, DC 20005
NIH/National Institute of Dental Research
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4261
References
TM DISORDERS; ACHES AND PAINS FROM FLAWS IN THE JAWS. D. Farley, FDA Consumer (June, 1988 issue). Pp. 6-10.
INCIDENCE AND CHARACTERIZATIONS OF TEMPOROMANDIBULAR JOINT SOUNDS IN
ADULTS. S. D. Vincent, et al.; J Am Dent Assoc (February, 1988, issue 116 (2)). Pp. 203-206.
CERVICAL EXTENSION-FLEXION INJURY (WHIPLASH) AND INTERNAL DERANGEMENT OF
THE TEMPOROMANDIBULAR JOINT. S. Weinberg, et al.; J Oral Maxillofac Surg. (August, 1987, issue 45 (8)). Pp. 653-656.
THE ACOUSTICAL CHARACTERISTICS OF THE NORMAL AND ABNORMAL
TEMPOROMANDIBULAR JOINT. T. Gay, et al.; J Oral Maxillofac Surg (May, 1987, issue 45 (5)). Pp. 397-407.
Temporomandibular Joint Dysfunction (TMJ)
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` S Copyright (C) 1990 National Organization for Rare Disorders, Inc.
779: Tethered Spinal Cord Syndrome
_________________________
** IMPORTANT **
It is possible that the main title of the article (Tethered Spinal Cord Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Occult Spinal Dysraphism Sequence
Tethered Cord Syndrome
Tethered Cord Malformation Sequence
Tethered Cervical Spinal Cord Syndrome
Congenital Tethered Cervical Spinal Cord Syndrome
Information on the following diseases can be found in the Related Disorders section of this report:
Diastematomyelia
Spina Bifida
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tethered Spinal Cord Syndrome is a disorder characterized by progressive neurological deterioration due to unnatural stretching of the spinal cord caused by adhesions on the vertebrae. It most commonly results from defective closure of the neural tube during embryonic development (Spina Bifida).
Symptoms
Initial symptoms of Tethered Spinal Cord Syndrome are usually urological and may include the inability to control urination (incontinence) and repeated urinary tract infections. Children who have tethered spinal cords usually show progressive foot and spinal deformities. At birth there is also usually a characteristic lesion on the skin of the lower back. These lesions may consist of tufts of hair, skin tags, dimples or fatty tumors. Other symptoms may include weakness of the lower extremities, inability to control bowel function (fecal incontinence), low back pain or a combination of these symptoms.
Adult onset of the disorder is very rare. When it does occur, the individual initially shows no symptoms. Later, the most common symptom is diffuse leg pain which may reach as high as the rectum. Progressive sensory and motor deficits may occur in the lower extremities, as well as bladder and bowel dysfunction.
Scientists believe that the amount of pulling force (traction) exerted on the spinal cord, rather than the type or distribution of lesions that are causing the pulling, probably determines the age of onset of symptoms. Less severe traction usually produces no symptoms in childhood, but may result in neurological dysfunction in later life due to repeated tugging at the base of the spinal cord during natural head and neck flexion, or when the condition is aggravated by trauma or disease.
Causes
The presence of adhesions on vertebrae is believed to be the cause of Tethered Spinal Cord Syndrome. These adhesions may be the result of structural defects arising from improper closure of the neural tube (Spina Bifida) at approximately 28 days of embryonic development. Failure of proper development in this area may lead to a wide variety of orthopedic or urologic symptoms through tethering or compression of the nerve roots.
Children with benign skin tumors (cutaneous hemangiomas) on the lower back may also have tethered spinal cords. Tethered Spinal Cord Syndrome is also occasionally associated with diastematomyelia, a disorder characterized by diversion of the spinal cord by a midline septum during embryonic development.
Affected Population
Tethered Spinal Cord Syndrome affects males and females equally. First degree relatives of those with the malformation appear to be at slightly higher risk of developing it. Individuals with previously repaired defects of the neural tube are also particularly susceptible to this disorder.
Related Disorders
The following disorders are often associated with Tethered Spinal Cord Syndrome.
Diastematomyelia is a rare and very serious spinal cord malformation. It is believed to be caused by genetic or environmental factors during the embryonic development which causes a longitudinal division in half of the spinal cord. In some cases, there are abnormalities of the vertebrae due to the adjustment necessary for encasing the two halves of the spinal cord. Diastematomyelia is often associated with Spina Bifida (failure of the neural tube to close completely), clubfoot or Tethered Spinal Cord Syndrome. Symptoms may include pain, weakness of legs and loss of control over urinary and fecal functions (incontinence). Surgery during infancy is often recommended. However, later in life, surgery is performed only if neurological symptoms develop.
Spina Bifida is a disorder characterized by defective closure of the neural tube through which the spinal cord may bulge. It may range in severity from presenting no symptoms to severe neurological disability. One or more of the individual bones of the spine fail to close completely, leaving a cleft or defect in the spinal canal. Through such an abnormal opening, part of the contents of the spinal canal can protrude or herniate. In mild cases, the disorder may not be diagnosed unless an X-ray is taken, usually for other purposes (e.g., back injury). (For more information on this disorder, choose "Spina Bifida" as your search term in the Rare Disease Database.)
Therapies: Standard
The appearance and recognition of surface lesions on the lower back at birth should lead to further testing for Tethered Spinal Cord Syndrome. Magnetic resonance imaging (MRI) is usually the technique of choice for identifying the tethered spinal cord. Pre-operative evaluation of potential sites of tethering, based on MRI findings, is very important for planning surgery. Removal of adhesions at the lower base of the spine through surgery is often recommended, and results are usually successful. Early management usually prevents neuromuscular, lower limb or urologic problems. It is usually best to treat the tethered cord before serious complications become apparent, as neurologic damage may not be reversible.
In cases where surgical release of the tethered spinal cord is ineffective, a posterior rhizotomy, in which certain spinal nerve roots are severed, may be performed to relieve pain.
Therapies: Investigational
This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tethered Spinal Cord Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
Spina Bifida Association of America
4590 Macarthur Blvd., NW, #250
Washington, DC 20007-4226
(202) 944-3285
(800) 621-3141
Spina Bifida Association of Canada
633 Wellington Crescent
Winnepeg, Manitoba R3M 0A8
Canada
International Federation for Hydrocephalus and Spina Bifida
c/o RBU
Gata 3
11138 Stockholm Sweden
Contact: David Bagares
References
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Company, 1988. Pp. 550.
UROLOGIC ASPECTS OF TETHERED CORD. R.C. Flanigan et al.; UROLOGY (January, 1989: issue 33 (1)). Pp. 80-82.
DIAGNOSIS OF TETHERED CORDS BY MAGNETIC RESONANCE IMAGING. W.A. Hall et al.; SURG NEUROL (July, 1988; 30 (1)). Pp. 60-64.
TETHERED CORD SYNDROME: A PEDIATRIC CASE STUDY. L. Greif et al.; J NEUROSCI NURS (April, 1989: issue 21 (2)). Pp. 86-91.
LUMBAR CUTANEOUS HEMANGIOMAS AS INDICATORS OF TETHERED SPINAL CORDS.
A.L. Albright et al.; PEDIATRICS (June, 1989: issue 83 (6)). Pp. 977-980.
Tethered Spinal Cord Syndrome
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%Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.
438: Tetrahydrobiopterin Deficiency
_________________________
** IMPORTANT **
It is possible the main title of the article (Tetrahydrobiopterin Deficiencies) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Atypical Hyperphenylalaninemia
Malignant Hyperphenylalaninemia
BH4 Deficiency
DISORDER SUBDIVISIONS
Dihydrobiopterin Synthetase (DHBS) Deficiency
Dihydropteridine Reductase (DHPR) Deficiency
Guanosine Triphosphate-Cyclohydrolase Deficiency
Information on the following diseases can be found in the Related Disorders section of this report:
Hyperphenylalaninemia
Phenylketonuria (PKU)
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report.
Tetrahydrobiopterin Deficiency is a rare genetic, neurological disorder present at birth. It is caused by an inborn error of metabolism. Tetrahydrobiopterin is a natural substance (coenzyme) that enhances the action of enzymes. When Tetrahydrobiopterin is deficient, an abnormally high blood level of the amino acid phenylalanine occurs and low levels of some neurotransmitters are found. To avoid irreversible neurological damage, diagnosis and treatment of this progressive disorder are essential early in life.
Symptoms
In general, symptoms of Tetrahydrobiopterin Deficiency usually include neurological problems, muscle tone and coordination abnormalities, seizures, and delayed motor development.
When enzymes including dihydrobiopterin synthetase, guanosine triphosphate-cyclohydrolase or dihydropteridine reductase are deficient, abnormal metabolism of tetrahydrobiopterin (a coenzyme necessary for enzyme metabolism) occurs. Tetrahydrobiopterin is required for the proper activity of three enzymes. When it is deficient, high blood levels of the amino acid phenylalanine can occur, and low levels of brain neurotransmitters will be found. Elevation levels of phenylalanine may range from mild too severe. However, symptoms are unresponsive to a phenylalanine-restricted diet because of the deficiency of brain chemicals that transmit signals. In time, irreversible mental retardation will occur in the absence of appropriate treatment. Treatment of tetrahydrobiopterin deficiency can include replacement therapy with tetrahydrobiopterin and/or neurotransmitter precursors.
Causes
Tetrahydrobiopterin Deficiency are inherited as autosomal recessive traits. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.)
Symptoms develop due to lack of enzyme activity leading to high blood levels of the amino acid phenylalanine and low levels of neurotransmitter chemicals which can cause brain damage.
Affected Population
Tetrahydrobiopterin Deficiency occurs worldwide and is estimated to affect one to three percent of infants diagnosed with high levels of the amino acid phenylalanine at birth. Phenylketonuria (PKU) occurs at a rate of 1 in 10 to 20 thousand live births in the United States. Tetrahydrobiopterin deficiency is very rare with less than 20 known patients identified in North America.
Related Disorders
Symptoms of the following disorders can be similar to those of Tetrahydrobiopterin Deficiency. Comparisons may be useful for a differential diagnosis:
Hyperphenylalaninemia is identified by the presence of abnormally high blood levels of the amino acid phenylalanine in newborns. It may or may not be associated with elevated levels of another amino acid, tyrosine, in these children. This disorder may be a symptom of Phenylketonuria (PKU) or it can be linked with short term deficiencies of either phenylalanine hydroxylase or p-hydroxyphenylpyruvic acid oxidase.
Phenylketonuria (PKU) is a hereditary metabolic disorder characterized by the inability to metabolize the amino acid phenylalanine. Uncontrolled accumulations of phenylalanine in the blood during childhood results in progressive, severe, irreversible mental retardation. A phenylalanine restricted diet can prevent brain damage if the disorder is identified early in infancy. Unlike PKU, a phenylalanine restricted diet does not prevent brain damage in patients with tetradydrobiopterin deficiency. (For more information on this disorder, choose "PKU" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Tetrahydrobiopterin Deficiency should be started as early as possible to avoid progression of complications such as brain damage. A low phenylalanine diet does not control the metabolic imbalance. However, this diet may be necessary to keep phenylalanine levels within normal range. As an alternative to the low phenylalanine diet, low doses of tetrahydrobiopterin (BH4) may normalize blood phenylalanine levels by restoring normal liver phenylalanine hydroxylase activity. Genetic counseling will be of benefit to patients and their families.
Therapies: Investigational
Treatments being tested for Tetrahydrobiopterin Deficiency include replacement of neurotransmitters such as L-dopa and 5-hydroxytryptophan administered in conjunction with an inhibitor of amino acid synthesis (decarboxylation). The long-term effects of high dosage tetrahydrobiopterin administration have not been established, although this therapy has shown dynamic improvement in some patients. Synthetic forms of tetrahydrobiopterin are also under study for use in treating this disorder. The long-term benefits of these therapies have not yet been established, but clinical research studies are being conducted to determine appropriate treatment and effectiveness.
The Food and Drug Administration (FDA) has awarded a research grant to Joseph Muenzer, M.D., University of Michigan, Ann Arbor, MI, for studies on Tetrahydrobiopterin as a treatment for this disorder.
For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database.
This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tetrahydrobiopterin Deficiency, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
National Association for Retarded Citizens of the U.S.
P.O. Box 6109
Arlington, TX 76005
(817) 640-0204
1-800-433-5255
National Institute on Mental Retardation
York University
Kinsmen MIMR Building
4700 Keele Street, Downview
Toronto, Ont. M3J 1P3
Canada
(416) 661-9611
Children's Brain Disease Foundation for Research
350 Parnassus, Suite 900
San Francisco, CA 94117
(415) 565-6259
(415) 566-5402
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Rd.
Crewe CW1 1XN, England
Telephone: (0270) 250244
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
HYPERPHENYLALANINAEMIA DUE TO IMPAIRED DIHYDROBIOPTERIN BIOSYNTHESIS:
LEUKOCYTE FUNCTION AND EFFECT OF TETRAHYDROBIOPTERIN THERAPY: K. Fukuda, et al.; J Inherited Metab Dis (1985, issue 8(2)). Pp. 49-52.
HYPERPHENYLALANINAEMIA CAUSED BY DEFECTS IN BIOPTERIN METABOLISM: S.
DIFFERENTIAL DIAGNOSIS OF TETRAHYDROBIOPTERIN DEFICIENCY: A.
Neiderweiser, et al.; J Inherited Metab Dis (1985, issue 8 Suppl 1). Pp. 34-38.
Tetrahydrobiopterin Deficiency-&
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Copyright (C) 1986 National Organization for Rare Disorders, Inc.
170: Tetralogy of Fallot
_________________________
** IMPORTANT **
It is possible that the main title of the article (Tetralogy of Fallot) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
DISORDER SUBDIVISIONS
Pseudotruncus Arteriosus
Pink Tetralogy of Fallot, also known as Acyanotic Tetralogy of Fallot
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Tetralogy of Fallot is a form of congenital heart disease. It consists of four defects. These defects are:
1. A ventricular septal defect
2. Obstructed outflow of the blood from the right ventricle to the lungs
3. A displaced aorta so that it receives blood from both the right and left ventricles
4. Enlargement of the right ventricle.
In addition to poor oxygen saturation which is due to poor blood flow to the lungs, symptoms are similar to those of severe ventricular septal defects (please see Rare Disease Database article on Ventricular Septal Defects). The degree of obstruction of blood flow to the lungs determines the severity of this disorder. Untreated Tetralogy of Fallot sometimes progresses becoming more severe as the child grows. In particular, the lungs can be permanently damaged by the abnormal pulmonary blood pressures generated by the ventricular septal defect. The patterns and quality of the sounds of the beating heart, electrocardiographic (EKG) and echocardiographic findings, and information from cardiac catheterization aid in diagnosis and therapy.
Symptoms
Infants with Tetralogy of Fallot show symptoms from birth or within the first year of life. They may not feed well often due to excessive fatigue; they gain weight slowly and grow poorly. With exertion, the children have severe, potentially life threatening attacks of breathlessness and hypoxia (lack of oxygen); they may assume a characteristic squatting posture which seems to help them to breathe somewhat during these episodes. Other signs of insufficient oxygen delivery to the tissues include cyanosis (a bluish coloration of the skin), clubbing of the finger tips, proliferation of red blood cells. A characteristic shape of the heart is usually visible on x-rays.
In general the symptoms associated with large ventricular defects consist of poor delivery of oxygen and congestive heart failure, characterized by swelling and fluid retention in the lungs and body. Rapid, "ineffectual", heartbeat and great difficulty breathing may also be present. (Please see article on Ventricular Septal Defects for a more complete discussion of the normal heart and the symptoms associated with large ventricular defects.)
The displacement of the aorta, the large artery leaving the heart and branching into all the other arteries serving the body, also causes oxygen unsaturated blood to reach the tissues.
Impaired outflow from the right ventricle usually results from an obstruction of the valve between the heart and the pulmonary artery, or from a narrowing of the channel at the top of right ventricle through which the blood passes to the pulmonary valve. When these obstructions are severe, the disorder is sometimes known as Pseudotruncus Arteriosus rather than Tetralogy of Fallot. Blood flow to the lung is reduced and a large fraction of the deoxygenated venous blood from the systemic veins moves almost directly into the aorta and back into the systemic circulation. The hypertrophy (enlargement) of the right ventricle is associated with the inability of the blood to pass easily into the pulmonary artery.
Heart defects seem to predispose patients to respiratory infections and bacterial infection of the inner lining of the heart (bacterial endocarditis). Bacterial endocarditis seems to occur more often with small or moderates sized septal defects. These infections should be avoided, particularly since resulting damage is likely to worsen the patient's condition.
Other complications of this kind of congenital heart disease include iron deficiency anemia, coagulation defects, a susceptibility to embolisms in the systemic circulation and to cerebral infarctions (destruction of tissue due to interrupted circulation) and abscesses.
Causes
The causes of the arrest in embryonic development resulting in congenital heart disease are poorly understood. In general, only about 10% of the cases appear to be hereditary, although this seems to be higher in Tetralogy of Fallot. Maternal rubella (measles), alcoholism, or diabetes are sometimes associated with heart defects. Ostium primum defects often occur in individuals with Down's Syndrome and certain other chromosomal abnormalities.
Affected Population
About 1% of live births have some kind of congenital heart defect; of these, about 10 % have Tetralogy of Fallot. Males are affected more often than females.
Related Disorders
Other congenital heart defects include atrial and isolated ventricular septal defects, valve defects of various kinds, malformations of the large vessels entering and leaving the heart, and anomalous positions of the heart in the chest.
Therapies: Standard
The definitive treatment for Tetralogy of Fallot is surgical. Total correction of the defects is best delayed until later in childhood, preferably around the age of 4 or 5 years. Intermediate, palliative measures that can be taken in infancy or early childhood include anastomosis of the aorta or the subclavian artery and the pulmonary artery.
Presurgical, palliative treatment includes medication such as digitalis to treat arrhythmias, excessively rapid heart beat, and heart failure. Sodium restriction, diuretics and rest are also effective in treating congestive heart failure. Respiratory infections are treated vigorously, and antibiotics are given prophylactically with such procedures as tooth extractions to reduce the risk of developing bacterial endocarditis. Severe hypoxic spells may require the administration of oxygen, morphine and other drugs to improve oxygen concentration.
Therapies: Investigational
This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Tetralogy of Fallot, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
American Heart Association
7320 Greenville Avenue
Dallas, TX 75231
(214) 750-5300
NIH/National Heart, Lung and Blood Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
American Lung Association
1740 Broadway
New York, NY 10019
(212)315-8700
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
Petersdorf, Robert G., et al, editors, Harrison's Principles of Internal Medicine, tenth edition. New York: McGraw-Hill 1983, pp. 1383-96.
Tetralogy of Fallot
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Copyright (C) 1990 National Organization for Rare Disorders, Inc.
796: Thalamic Syndrome (Dejerine-Roussy)
_________________________
** IMPORTANT **
It is possible that the main title of the article (Thalamic Syndrome (Dejerine-Roussy)) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Dejerine-Roussy Syndrome
Posterior Thalamic Syndrome
Retrolenticular Syndrome
Thalamic Hyperesthetic Anesthesia
Thalamic Pain Syndrome
Information on the following disorders can be found in the Related Disorders section of this report:
Reflex Sympathetic Dystrophy Syndrome (RSDS)
Guillain-Barre Syndrome
Carpal Tunnel Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Thalamic Syndrome (Dejerine-Roussy) is a rare neurological disorder which occurs as a result of damage to the thalamus (a part of the brain which can affect sensation). Primary symptoms are pain and loss of sensation usually in the face, arm, or leg.
Symptoms
Thalamic Syndrome (Dejerine-Roussy) is characterized by pain and loss of sensation. Some of the body may be affected, or one half of the body, usually the face, arm, or leg. All types of sensations can be affected including touch, pain, and awareness of temperature. There may also be pain in the affected part of the body which may increase with stimulation. For example, being touched, or being exposed to cold temperatures may cause spontaneous pain. Taste may be affected; food and drink may have an unusual or different flavor. A slow tremor of the hand, arm, foot, or leg which increases when the patient attempts to voluntarily move the limb (intention tremor) may be apparent. Hand spasms may also occur. Mild muscular weakness or partial paralysis limited to one side of the body (hemiparesis) may be another symptom.
The patient may experience a disagreeable sensation or strong pain in response to touch which, under normal conditions, would not be uncomfortable (hyperpathia). He or she may, at first, have trouble feeling a touch sensation (dysesthesia) and the threshold for pain may be raised; however, once the level of pain that he or she can accept is exceeded, there is an over-reaction to the pain (hyperresponsiveness). The patient may not have a sense of what position the affected part of the body is in. Emotional over-reactions may occur.
Causes
Thalamic Syndrome (Dejerine-Roussy) stems from damage to the thalamus, usually appearing 4 to 6 weeks after the damage has occurred. Symptoms appear when there is loss of nerve cells in the back part of the thalamus. The thalamus is a part of the brain that acts as a coordinating center for nerve impulses from all the senses, relaying them to appropriate areas in the rest of the brain where they are then consciously perceived. The loss of nerve cells may be due to blockage in blood circulation caused by a blood clot, or by an abnormal particle such as an air bubble circulating in the blood (embolus). It may also be due to a small lesion or a tumor in the thalamus.
When one side of the thalamus is damaged, some or all of the opposite side of the body (face, arm, leg) may be abnormally sensitive to all types of stimuli such as touch (contralateral hypersensitivity). This may cause pain in the areas where there is a loss of sensation (anesthesia dolorosa).
Affected Population
Thalamic Syndrome (Dejerine-Roussy) is a rare disorder that affects males and females in equal numbers.
Related Disorders
Reflex Sympathetic Dystrophy Syndrome (RSDS) is a term encompassing a group of chronic pain syndromes. Symptoms include severe pain and alternating constriction and dilation of blood vessels after trauma, often minor in nature. Other cases of RSDS can begin without apparent cause. Symptoms can become chronic if treatment is not begun as soon as possible after diagnosis. However, diagnosis and treatment are difficult due to the wide variety of body areas which can be affected. Also, RSDS can easily be misdiagnosed as a nerve injury which is characterized by similar painful symptoms. (For more information on this disorder, choose "RSDS" as your search term in the Rare Disease Database).
Guillain-Barre Syndrome occurs when the body's defense system against disease (e.g., antibodies or lymphocytes) attacks the nerves, damaging the nerve's myelin and axon. Nerve signals are delayed and altered, causing weakness and paralysis of the muscles of the legs, arms, and other parts of the body along with abnormal sensations. (For more information on this disorder, choose "Guillain-Barre" as your search term in the Rare Disease Database).
Major symptoms of Carpal Tunnel Syndrome include a sensation of numbness, tingling, burning and/or slight pain in the hand and wrist. This sensation can be temporary at first, later becoming chronic. It can cause patients to awaken during the night. Left untreated, muscle atrophy in the hand may develop. Symptoms may become worse with activities that require wrist flexing or prolonged gripping such as hammering or driving for long periods of time. Carpal Tunnel Syndrome is a very prevalent disorder that can be treated through weight loss, hand splints or surgery. (For more information on this disorder, choose "Carpal Tunnel" as your search term in the Rare Disease Database).
Therapies: Standard
In Thalamic Syndrome (Dejerine-Roussy) surgical lesions can interrupt the sensory pathway of the brain and may help decrease the pain without affecting sensory ability. Patients may be able to experience touch without feeling pain or discomfort after surgical treatment.
Therapies: Investigational
This disease entry is based upon medical information available through November 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Thalamic Syndrome (Dejerine-Roussy Syndrome), please contact:
National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
International Tremor Foundation
360 W. Superior St.
Chicago, IL 60610
(312) 664-2344
References
CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 2128-2129.
BRAIN GLUCOSE METABOLISM IN THALAMIC SYNDROME. E. C. Laterre, et al.; J Neurol Neurosurg Psychiatry (March 1988; issue 51 (3)). Pp. 427-428.
THALAMIC PAIN SYNDROME OF DEJERINE-ROUSSY. F. Mauguiere and J. E Desmedt; Arch Neurol (December 1988; issue 45 (12)). Pp. 1312-1320.
Thalamic Syndrome (Dejerine-Roussy)
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,Copyright (C) 1986, 1987, 1990, 1992, 1993 National Organization for Rare Disorders, Inc.
It is possible that the main title of the article (Thalassemia Major) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article.
Synonyms
Cooley's Anemia
Mediterranean Anemia
Target Cell Anemia
Beta Thalassemia Major
Erythroblastotic Anemia of Childhood
Thalassemia
Hereditary Leptocytosis
Hemoglobin Lepore Syndromes
Microcythemia
Information on the following diseases can be found in the Related Disorders section of this report:
Thalassemia Minor
Hereditary Spherocytic Hemolytic Anemia
Anemias (General)
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Thalassemia Major is a rare blood disorder characterized by a marked increase in F hemoglobin and a decrease in the production of certain oxygen carrying proteins in red blood cells (beta polypeptide chains in the hemoglobin molecule). Thalassemia Major is the most severe form of chronic familial anemias that result from the premature destruction of red blood cells (hemolytic). This disease was originally found in people living near the Mediterranean Sea. People with this disorder also have a reduced number of circulating red blood cells (erythrocytes).
Symptoms
The symptoms of Thalassemia Major typically occur very suddenly in infancy or early childhood. These may include generalized weakness (malaise), an upset stomach (dyspepsia), and/or heart palpitations. Patients may have a yellow appearance to their skin (jaundice), leg ulcers, an abnormally enlarged liver (hepatomegaly), an abnormally enlarged spleen (splenomegaly), the presence of stones in the gall bladder (cholelithiasis), and/or an enlarged abdomen. Abnormally overactive bone marrow growth may result in a thickened skull (cranial bones) and prominent cheek bones.
Thalassemia Major can cause the loss of bone (osteoporosis) in the long bones of the body; fractures are common because bones become fragile. People with this disorder may be underdeveloped for their age and short in stature. Excess iron deposits in the heart muscle can cause heart abnormalities and eventual cardiac failure. People with Thalassemia Major may also experience mental deterioration. They are prone to repeated infections which can cause additional problems.
Causes
Thalassemia Major is inherited as an autosomal recessive genetic trait. Human traits including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.
The gene that causes Thalassemia Major is located on the short arm of chromosome 11.
People who have both of the pair of genes (homozygous) that cause Thalassemia Major have more severe symptoms than those people who have only one of the pair of genes (heterozygous) that causes the disease. This disorder is more common in families who intermarry and in those whose parents both have a gene for Thalassemia Minor. (For more information, choose "Thalassemia Minor" as your search term in the Rare Disease Database.)
Affected Population
Thalassemia Major is a rare disorder that most commonly occurs in people of Mediterranean heritage, especially Italians and Greeks. It is also common in an area that extends from northern Africa and southern Europe to Thailand, including Iran, Iraq, Indonesia, and southern China. This disorder affects males and females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Thalassemia Major. Comparisons may be useful for a differential diagnosis:
Thalassemia Minor is a relatively mild form of anemia that is typically present at birth. It is inherited as an autosomal recessive genetic trait. Constant fatigue may be the only symptom of this disorder. However, if anemia becomes severe, the spleen may become slightly enlarged (splenomegaly) and there may be a pale color to the skin. Occasionally a child with Thalassemia Minor may complain of pain in the left upper side of the abdomen. This disorder may be aggravated by stress, infections, malnutrition, and/or pregnancy. (For more information on this disorder, choose "Thalassemia Minor" as your search term in the Rare Disease Database).
Hereditary Spherocytic Hemolytic Anemia is a rare inherited blood disorder characterized by the presence of sphere-shaped red blood cells. These cells have difficulty circulating through the spleen resulting in the destruction of red blood cells. The symptoms of Hereditary Spherocytic Hemolytic Anemia may be present at birth or not be apparent for years, and in many people the disease may be so mild that it is not diagnosed. Symptoms may include fatigue and a yellow (jaundice) appearance to the skin. Generally the spleen is enlarged resulting in abdominal discomfort. An infection is the most common trigger of an anemic crisis. Trauma or pregnancy may also cause an anemic crisis. The child may experience fever, headache, loss of appetite, vomiting, leg sores, and/or general weakness. (For more information on this disorder, choose "Hereditary Spherocytic Hemolytic Anemia" as your search term in the Rare Disease Database.)
Other types of anemias include: Aplastic Anemia; Hereditary Non-Spherocytic Hemolytic Anemia; Megaloblastic Anemia; Warm Antibody Hemolytic Anemia; Cold Antibody Hemolytic Anemia; Acquired Autoimmune Hemolytic Anemia; Pernicious Anemia; Folic Acid Deficiency Anemia; Blackfan-Diamond Anemia; and Fanconi's Anemia. (For information on other types of Anemias, choose "Anemia" as your search term in the Rare Disease Database.)
Therapies: Standard
A person with Thalassemia Major has severe anemia. Chronic blood transfusions may be necessary in severely affected patients to maintain the levels of hemoglobin in the red blood cells (above 10 gm percent) and to allow for normal growth.
Without treatment, Thalassemia Major can be life-threatening. Since iron overload is a possibility due to repeated blood transfusions, children should be given as few transfusions as possible. Daily treatment with the drug deferroxamine is necessary to avoid severe iron overload. Removal of the spleen (splenectomy) may help patients with an abnormally enlarged spleen. This surgery reduces the number of blood transfusions that may otherwise be required.
Genetic counseling will be of benefit for patients with Thalassemia Major and their families. Genetic tests are available to determine if a person is a carrier of the gene, and prenatal tests can identify an affected fetus.
Therapies: Investigational
The orphan drugs arginine butyrate and isobutyramide are being studied as possible treatments for Thalassemia Major. Additional study is needed to determine the long-term safety and effectiveness of these drugs. For more information, patients may have their physicians contact:
Dr. Susan P. Perrine
Children's Hospital
Oakland Institute
747 52nd Street
Oakland, CA 94609
The orphan drug Sodium Phenylbutyrate is being developed for the treatment of Thalassemia Major and other diseases that involve the abnormal formation of red blood cells (sickling diseases). For more information, patients may have their physicians contact:
Saul Brusilow, M.D.
301 Children's Medical and Surgical Center
John Hopkins Hospital
600 North Wolfe Street
Baltimore, MD 21205
(310) 955-0885
Clinical trials for the treatment of Thalassemia Major are being conducted on several compounds that bind to iron (chelating agents) for the treatment of Thalassemia Major.
Bone marrow transplantation is another treatment under investigation for the treatment of people with Thalassemia Major. For additional information, patients may have their physicians contact:
NIH/National Institute of Diabetes, Digestive and Kidney Diseases (NIDDK)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-3583
This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Thalassemia Major, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Association for Sickle Cell Disease Inc.
3460 Wilshire Blvd., Suite 1012
Los Angeles, CA 96010
(800) 421-8453
(213) 731-1166
Cooley's Anemia Foundation, Inc.
105 East 22nd St.
New York, NY 10010
(212) 598-0911
(800) 522-7222 (New York state)
(800) 221-3571 (all other states)
NIH/National Heart, Lung, and Blood Institute (NHLBI)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Ave.
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1069.
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 883-84.
THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 1172, 1174.
HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., 1990. Pp. 510-534.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1658-1661.
MANAGEMENT OF THALASSEMIA MAJOR (COOLEY'S ANEMIA). S. Piomelli; Hematol Oncol Clin North Am (Jun 1991; 5(3)). Pp. 557-69.
BETA-THALASSEMIA MAJOR AND SICKLE CELL DISEASE. R.B. Butler; NAACOGS Clin Issu Perinat Womens Health Nurs (1991; 2(3)). Pp. 349-356.
Copyright (C) 1986, 1989, 1992, 1993 National Organization for Rare Disorders, Inc.
72: Thalassemia Minor
_________________________
** IMPORTANT **
It is possible that the main title of the article (Thalassemia Minor) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article.
Synonyms
Beta Thalassemia Minor
Hereditary Leptocytosis
Heterozygous Beta Thalassemia
Thalassemia
Information on the following diseases can be found in the Related Disorders section of this report:
Sideroblastic Anemia
Sickle Cell Disease
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Thalassemia Minor is a rare blood disorder characterized by a moderately low level of hemoglobin in red blood cells (anemia). This disorder is inherited. People with Thalassemia Minor have one of a pair (heterozygous) of the thalassemia gene. If a person has two copies of the gene, they will have Thalassemia Major which is a more serious disease.
Symptoms
The only symptom of Thalassemia Minor may be persistent fatigue. However, if the levels of hemoglobin in the red blood cells (which carry oxygen) are very low (anemia), then the individual may become pale and have slight enlargement of the spleen (splenomegaly). Some people with Thalassemia Minor may also experience pain in the upper left side of the abdomen.
The symptoms of Thalassemia Minor may become worse when the patient is under stress, suffers infections or malnutrition, or is pregnant. The life span of people with this disorder is normal.
Causes
Thalassemia Minor is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.
In Thalassemia Minor a person inherits only one of the Thalassemia genes, so they get a less serious form of Thalassemia than those who inherit both genes (Thalassemia Major).
Affected Population
Thalassemia Minor is a rare inherited blood disorder that affects males and females in equal numbers. This disorder most commonly occurs in people of Mediterranean or southern Chinese descent. Thalassemia Minor occurs in as many as 1 in 5 people of certain Italian populations.
Related Disorders
Symptoms of the following disorders can be similar to those of Thalassemia Minor. Comparisons may be useful for a differential diagnosis:
Sideroblastic Anemia is a rare blood disorder characterized by low levels of hemoglobin due to the ineffective use of iron. The symptoms of this disorder typically include fatigue, weakness, and difficulty breathing. Physical exertion may also cause chest pains. This disorder is diagnosed by a blood test that reveals abnormal red blood cells known as sideroblasts. (For more information, choose "Sideroblastic Anemia" as your search term in the Rare Disease Database.)
Sickle Cell Disease is a group of inherited blood diseases characterized by the presence of abnormal crescent-shaped red blood cells and low levels of hemoglobin (anemia). Symptoms may include fatigue, respiratory infections, irritability, enlarged spleen, and/or sudden acute attacks of pain particularly in the chest. Other symptoms may include an enlargement of the liver, and/or painful inflammation of the fingers and/or toes. (For more information, choose "Sickle Cell" as your search term in the Rare Disease Database.)
There are many other varieties of Anemias that have symptoms that are similar to those of Thalassemia Minor. Generally, a blood test is required to distinguish one form of anemia from the other. (For more information, choose "Anemia" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment for Thalassemia Minor is generally not necessary. This disorder does not respond to iron therapy. Prolonged use of iron may lead to excessive iron storage in body tissues. Pregnant women with Thalassemia Minor may require blood transfusions to maintain appropriate hemoglobin levels.
Genetic counseling will be of benefit for people with Thalassemia Minor and their families.
Therapies: Investigational
The orphan drug sodium phenylbutyrate is being studied for the treatment of various blood disorders including Thalassemia Minor. For more information on this drug, patients may have their physicians contact:
Dr. Saul Brusilow
John Hopkins Hospital,
600 Wolfe Street
Baltimore, MD 21205
(310) 955-0885
This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Thalassemia Minor, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Association for Sickle Cell Disease Inc.
3460 Wilshire Blvd., Suite 1012
Los Angeles, CA 96010
(800) 421-8453
(213) 731-1166
Cooley's Anemia Foundation, Inc.
105 East 22nd St.
New York, NY 10010
(212) 598-0911
(800) 522-7222 (New York state)
(800) 221-3571 (all other states)
NIH/National Heart, Lung and Blood Institute (NHBLI)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
For Genetic Information and Genetic Counseling Referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Ave.
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
800-336-GENE
301-652-5553
References
MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 496.
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 883.
THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 1172.
HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., 1990. Pp. 492-493, 511.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1659-1661.
NELSON TEXTBOOK OF PEDIATRICS, 14th Ed.; Richard E. Behrman et al; W.B. Saunders Co., 1992. Pp. 1516-1516.
Thalassemia Minor
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Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.
372: Thomsen Disease
_________________________
** IMPORTANT **
It is possible the main title of the article (Thomsen Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Myotonia Congenita
Myotonia Hereditaria
Ataxia Muscularis
Myotonia Dystrophica
Thomsen-Becker Myotonia
Information on the following diseases can be found in the Related Disorders section of this report:
Myotonic Dystrophy
Schwartz-Jampel Syndrome, also known as Chondrodystrophic Myotonia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Thomsen Disease is a rare inherited neuromuscular disorder that usually begins early in life. Difficulty in initiating movement combined with slowness of muscle relaxation are the primary symptoms. Muscle stiffness of the entire body may also occur since this disorder involves the entire muscle system. Thomsen Disease is generally a nonprogressive disorder.
Symptoms
People with Thomsen Disease experience spasms or rigidity when an attempt is made to move muscles after a period of rest, or when the muscles are mechanically stimulated. Contraction of muscles may persist thirty seconds or more after mechanical stimulation. The stiffness usually disappears as the muscles are used. Symptoms may involve the muscles of the entire body. Slowness in chewing, swallowing, talking, and walking can occur.
Causes
Thomsen Disease is inherited as an autosomal dominant trait. Medical researchers believe that excess production of a nerve transmitting substance (acetylcholine) at locations where nerves connect to muscles (neuromuscular junctions) can cause this disorder.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
Affected Population
Thomsen Disease usually begins at birth or shortly after. Rarely, it may suddenly begin at puberty but does not seem to start thereafter. It appears to affect males more often than females.
Related Disorders
Myotonic Dystrophy is an inherited neuromuscular disorder involving the muscles, vision, endocrine glands, possible mental deficiency and loss of hair. This rare disorder occurs in men and women equally with onset commonly during young adulthood. However, it can occur at any age and is extremely variable in degree of severity. (For more information on this disorder, choose "Myotonic Dystrophy" as your search term in the Rare Disease Database).
Schwartz-Jampel Syndrome, also known as Chondrodystrophic Myotonia, involves delays in normal muscle growth usually beginning in early infancy. Thereafter, muscles may fail to keep pace with the patient's growth.
Therapies: Standard
The antiarrythmic drug Tocainide is often used as a treatment for Thomsen Disease. However, careful monitoring of the dosages and the patient's heart function is important while taking this drug.
Thomsen Disease patients usually do not respond to physical therapy because of the weakness of the muscles, but in some cases active and passive exercises may be helpful. Agencies which provide services to handicapped people and their families may be of benefit. Genetic counseling can be useful for families affected by this disorder. Other treatment is symptomatic and supportive.
Therapies: Investigational
Treatment of Thomsen Disease using the experimental antimyotonic drug mexiletine may improve muscle weakness in some patients. The use of this treatment is still under investigation to determine it's long-term effectiveness and possible side effects.
This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Thomsen Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
Muscular Dystrophy Association, National Office
3300 E. Sunrise Dr.
Tucson, AZ 85718
(602) 529-2000
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
SUCCESSFUL TREATMENT WITH TOCAINIDE OF RECESSIVE GENERALIZED CONGENITAL
MYOTONIA: E.W. Streib; Ann Neurol (May 1986, issue 19(5)). Pp. 501-504.
VALUE OF MEXILETINE IN THE TREATMENT OF THOMSEN-BECKER MYOTONIA: F.
Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.
156: Thrombasthenia
_________________________
** IMPORTANT **
It is possible that the main title of the article (Thrombasthenia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Glanzmann Disease
Glanzmann-Naegeli Syndrome
Diacyclothrombopathia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section.
Thrombasthenia is a hereditary disorder of blood coagulation due to defects in the functioning of platelets, blood elements important in clotting after injuries. Several different genetic abnormalities may cause the disease. Thrombasthenia is not progressive; in fact, the condition seems to improve with age. Prolonged episodes of bleeding can, however, be life-threatening if not successfully treated.
Symptoms
Thrombasthenia manifests itself at birth or shortly thereafter. Affected individuals tend to bleed easily and profusely, particularly after injuries and during surgery. They are susceptible to bruises and large purplish areas on the skin due to tiny spots of subcutaneous bleeding. Nosebleeds, unusually heavy menstrual flow, or irregular uterine bleeding may also be present. Severity varies from one individual to the next.
Laboratory investigations reveal abnormalities in the appearance and biochemical reactions of the platelets. They fail to aggregate normally, and retraction of clots is also abnormal.
Causes
Thrombasthenia may be inherited either through autosomal dominant or recessive mechanisms.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.
In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.
Four different genetic abnormalities that are associated with thrombasthenia have been found so far.
Related Disorders
Other disorders of platelet function include Bernard-Soulier Syndrome, May-Hegglin Syndrome, Chediak-Higashi Syndrome, the Gray Platelet Syndrome, and various defects of collagen induced platelet aggregation. Platelet disorders are also associated with congenital conditions such as Wiskott-Aldrich Syndrome, Down's Syndrome, Thrombocytopenia with Absent Radius syndrome, and von Willebrand's Disease.
Therapies: Standard
The only known therapy for Thrombasthenia is the transfusion of fresh blood from a normal donor when bleeding is severe.
Therapies: Investigational
This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Thrombasthenia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Heart, Lung and Blood Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
For information on genetics and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1164.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1056-7.
Thrombasthenia
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Copyright (C) 1988, 1989, 1990 National Organization for Rare Disorders, Inc.
577: Thrombocythemia, Essential
_________________________
** IMPORTANT **
It is possible that the main title of the article (Essential Thrombocythemia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
ET
Essential Thrombocytosis
Idiopathic Thrombocythemia
Primary Thrombocythemia
Essential hemorrhagic Thrombocythemia
Information on the following diseases can be found in the Related Disorders section of this report:
Myelogenous Leukemia
Myeloid Metaplasia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Essential Thrombocythemia is a rare disorder of blood platelet production. Major symptoms may include overproduction of platelets in the bone marrow, accompanied by active bleeding or an enlarged spleen (splenomegaly).
Symptoms
Essential Thrombocythemia is characterized by excessive amounts of platelet formation in the bone marrow. This may result in active bleeding or blood clots (thrombosis). Other abnormalities in the bone marrow cells or chromosomes (cytogenetic) may occur in connection with this disorder. This disease may evolve with time into a more serious type of blood disease.
Causes
The exact cause of Essential Thrombocythemia is not known. In some cases it may be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. (In autosomal dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.)
Affected Population
Essential Thrombocythemia is a very rare blood disease which affects males and females in equal numbers. Although symptoms usually begin during the fifth or sixth decade of life this disorder may develop at any age.
Related Disorders
Thrombocytopenia may occur as part of polycythemia vera, chronic myelogenous leukemia, or myeloid metaplasia. Symptoms of the following disorders can be similar to those of Essential Thrombocythemia. Comparisons may be useful for a differential diagnosis:
Myelogenous Leukemia is a form of blood cancer.
Myeloid Metaplasia is a syndrome characterized by anemia, enlargement of the spleen, nucleated red blood cells and immature granulocytes in the circulating blood. If it occurs in persons who have another disease it is termed secondary or symptomatic myeloid. When it occurs as a single illness it is termed primary or agnogenic myeloid metaplasia, myelofibrosis, or myelosclerosis, because of an associated fibrosis of the bone marrow. The condition may also develop in the course of red blood cell disease such as polycythemia rubra vera. There is a high incidence of development of myeloid leukemia in this form of the illness.
Therapies: Standard
Treatment of Essential Thrombocythemia usually involves the use of drugs which suppress the development of blood cells in the bone marrow (myelosuppressive agents) such as the drugs 32/P, Hydroxyurea, Melphalan or Busulfan. These drugs are usually effective in reducing the number of platelets in the bone marrow. Genetic counseling may be of benefit for patients and their families when they have the genetic form of the illness. Other treatment is symptomatic and supportive.
Therapies: Investigational
Essential Thrombocythemia is being treated experimentally with the orphan drug, anagrelide. For more information on this drug physicians can contact:
Roberts Pharmaceutical Corp.
Meridian Center III
6 Industrial Way West
Eatontown, NJ 07724
(908) 389-1182
Another experimental therapy in use is plateletpheresis which involves the removal of blood platelets. More research is necessary to determine long term safety and effectiveness of this treatment.
This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Essential Thrombocythemia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Myeloproliferative Research Center, Inc.
2220 Tiemann Ave.
Baychester, NY 10469
(718) 231-0270
(800) MPD-HELP
NIH/National Heart, Blood, & Lung Institute (NHLBI)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
For Genetic Information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.712.
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1079-1086.
ESSENTIAL THROMBOCYTHEMIAS. CLINICAL EVOLUTIONARY AND BIOLOGICAL DATA.
S. Bellucci, et al., Cancer (December, 1986, issue 58 (11)). Pp. 2440-2447.
ESSENTIAL THROMBOCYTHEMIA AND LEUKEMIC TRANSFORMATION. S. M. Sedlacek, et al., Medicine (Baltimore) (November, 1986, issue 65 (6)). Pp. 353-364.
CLINICAL PRESENTATION AND NATURAL HISTORY OF PATIENTS WITH ESSENTIAL
THROMBOCYTHEMIA AND THE PHILADELPHIA CHROMOSOME. D.B. Stoll, et al., Am J Hematol (February, 1988, issue 27(2)). Pp. 77-83.
Thrombocythemia, Essential
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#Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.
402: Stenosis, Spinal
_________________________
** IMPORTANT **
It is possible that the main title of the article (Spinal Stenosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Lumbar Spinal Stenosis
Degenerative Lumbar Spinal Stenosis
Familial Lumbar Stenosis
Stenosis of the Lumbar Vertebral Canal
Lumbar Canal Stenosis
Lumbosacral Spinal Stenosis
Thoracic Spinal Canal Stenosis
Cervical Spinal Stenosis
Tandem Spinal Stenosis
Information on the following diseases can be found in the Related Disorders section of this report:
Sciatica
Paget's Disease
Amyotrophic Lateral Sclerosis
Cauda Equina Syndrome
Herniated Intervertebral Lumbar disk
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Spinal Stenosis is characterized by measurable constriction, compression or narrowing of space inside the spinal canal, nerve root canals, or vertebrae which contains nerves and blood vessels. This condition can affect limited areas of the spine. Constriction may or may not continue to progress. In other cases, symptoms may begin as a result of spinal injury or surgery for spinal disk problems. Abnormal bone growth or deterioration can cause narrowing of the spinal canal. Nerve and blood vessel compression, intermittent limping or problems with walking, and/or urinary incontinence can occur. Pain, numbness or burning sensations may occur in the lower back or legs. Temporary paralysis of the legs can also develop.
Symptoms
Spinal Stenosis is characterized by narrowing of the space occupied by nerves and blood vessels inside the spinal canal or vertebrae. It can be marked by abnormal bone growth or deterioration. Nerve and blood vessel compression can lead to problems with walking, intermittent limping, urinary incontinence, temporary paralysis of the legs, and pain or burning sensations in the lower back and legs. This disorder tends to occur most often among middle aged or elderly persons although it can be present at birth.
Causes
Spinal Stenosis may be inherited in some cases as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.)
Affected Population
Spinal Stenosis tends to affect males more often than females, and is usually found among middle aged or elderly persons. Persons engaging in extremely rough contact sports with a high possibility of sustaining back injuries (such as football or hockey) may have more occurrences than that of the general population.
Related Disorders
Symptoms of the following disorders can be similar to those of Spinal Stenosis. Comparisons may be useful for a differential diagnosis:
Sciatica is a sciatic nerve root disease that causes very severe pain. It may occur alone or in combination with other conditions. Sciatica is characterized by pain radiating down one or both buttocks and/or legs in the distribution of the sciatic nerve. Sciatica can be caused by peripheral nerve root compression from spinal disk abnormalities, tumors, or rarely from infection. The nerves may be compressed inside the spinal canal, pelvis or buttocks. Toxic inflammation (usually caused by Diabetes or alcoholism) may also cause this type of nerve pain in rare cases.
Paget's Disease is a slowly progressive disease of the skeletal system characterized by abnormally rapid bone breakdown and formation, leading to the development of bones that are dense but fragile. It usually affects middle-aged and elderly people and most frequently occurs in the spine, skull, pelvis, thighs and lower legs. When the spine is affected, symptoms can resemble those of Spinal Stenosis. (For more information on this disorder, choose "Paget" as your search term in the Rare Disease Database).
Cauda Equina Syndrome is characterized by dull pain in the lower back (upper sacral) region with loss of sensation in buttocks, genitalia, or thighs. Bowel and bladder function are disturbed. This is caused by compression of the bundle of spinal nerve roots (cauda equina) below the first lumbar vertebra. Surgical decompression can be successful in alleviating symptoms.
A Herniated Intervertebral Lumbar ("slipped") Disk refers to an abnormal protrusion into the spinal canal of the fibrous tissue (spinal disk) that acts as a shock absorber between bony vertebrae. The disk does not actually move, but rather swells outward. The protruded disk can compress the space in the spinal canal and cause nerve injury and pain. This condition is very common, and occasionally may require correction by surgery.
The following disorder may precede the development of Spinal Stenosis. This can be useful in identifying an underlying cause of some forms of this disorder:
Achondroplasia is an inherited skeletal disorder which is one of a group of congenital disorders known as the chondrodystrophies. These diseases are marked by abnormalities in the way cartilage is converted to bone. Skeletal deformities and dwarfism occur as a result of growth abnormalities in the bone and cartilage. In some cases, the bones and cartilage of the spine are affected causing narrowing in the intervertebral canal or Spinal Stenosis. (For more information on this disorder, choose "Achondroplasia" as your search term in the Rare Disease Database).
Therapies: Standard
Diagnosis of Spinal Stenosis involves the use of imaging procedures such as magnetic resonance imaging (MRI), Computerized Tomography (CT) scan, myelography, and/or intraoperative spinal sonography (IOSS). Surgery to decompress the spinal canal may be helpful. Other treatment is symptomatic and supportive.
Therapies: Investigational
Internal Spinal Fixation devices are being tested for some cases of Spinal Stenosis. These devices seek to alleviate pressure on nerves or blood vessels in the spinal canal by mechanically changing the position of some of the bony vertebral sections. More research is required to determine complete long-term effectiveness of these devices.
This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Spinal Stenosis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Scoliosis Foundation, Inc.
72 Mount Auburn St.
Watertown, MA 02172
(617) 926-0397
The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 465.
SURGICAL MANAGEMENT OF LUMBAR SPINAL STENOSIS: R.J. Nasca; Spine (October 1987, issue 12(8)). Pp. 809-816.
LUMBAR HERNIATED DISK DISEASE AND CANAL STENOSIS: PROSPECTIVE EVALUATION
BY SURFACE COIL MR, CT, AND MYELOGRAPHY: M.T. Modic, et al.; AJR (October 1986, issue 147(4)). Pp. 757-765.
TANDEM LUMBAR AND CERVICAL SPINAL STENOSIS. NATURAL HISTORY, PROGNOSTIC
INDICES, AND RESULTS AFTER SURGICAL DECOMPRESSION: T.F. Dagi, et al.; J Neurosurg (June 1987, issue 66(6)). Pp. 842-849.
CAUDA EQUINA SYNDROME: A COMPLICATION OF LUMBAR DISCECTOMY: A.C.
McLaren, et al.; Clin Orthop (March 1986, issue 204). Pp. 143-149.
THORACIC SPINAL CANAL STENOSIS: G.H. Barnett, et al.; J Neurosurg (March 1987, issue 66(3)). Pp. 338-344.
INTERPEDUNCULAR SEGMENTAL FIXATION: E. Luque; Clin Orthop (February 1986, issue 203). Pp. 54-57.
Stenosis, Spinal
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Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc.
295: Stevens-Johnson Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Stevens-Johnson Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Erythema Multiforme Exudativum
Ectodermosis Erosiva Pluriorificialis
Johnson-Stevens disease
Febrile Mucocutaneous Syndrome
Herpes Iris
Dermatostomatitis
Erythema Polymorphe
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Stevens-Johnson syndrome is a severe form of Erythema Multiforme characterized by blistery lesions on the mucous membranes of the mouth, throat, anogenital region, eyelids and corneal lining (conjunctiva).
Symptoms
Stevens-Johnson syndrome is characterized by blistery eruptions on the mucous membranes of the mouth, throat, anogenital region, intestinal tract and eyelid lining (conjunctiva). Typical Erythema Multiforme lesions may or may not be present elsewhere on the skin. The patient with Stevens-Johnson syndrome may be unable to eat or close his/her mouth properly. Drooling may occur as a result. Eyes may become painful and inflammation of the eyelids (conjunctivitis) with swelling and pus may cause great discomfort. Untreated, the conjunctival lesions may leave residual corneal scarring, which sometimes may cause blindness.
A patchy pneumonia is often present in the lungs. There may also be symptoms of joint inflammation and general fatigue.
Causes
1. In about 50% of cases no cause can be found for Stevens-Johnson syndrome.
2. In children and young adults, infections caused by herpes simplex virus are the most common cause. Additionally, coxsackie- and echoviruses, Mycoplasma pneumonia, psittacosis, histioplasmosis, and Vaccinia, Bacillus Calmette-Guerin, and poliomyelitis vaccines have been identified as causes of Stevens-Johnson syndrome.
3. In other cases, x-ray therapy or drugs can sometimes cause Stevens-Johnson syndrome in susceptible people. Penicillin, sulfonamides, and barbiturates are the most common drug causes. The mechanisms by which infectious agents or drugs can cause the condition in some people is unknown, but it appears to be an unpredictable allergic reaction to these substances.
Affected Population
People of all ages and both sexes can be affected by Stevens-Johnson syndrome.
Related Disorders
Allergic Stomatitis is an inflammation of the mouth characterized by an intense shiny redness of the mucous membrane in the mouth, accompanied by slight swelling, itching, dryness or burning sensation. This disorder may be due to sensitivity to foods or lipstick.
Herpetic Stomatitis is an inflammation of the mouth caused by the herpes simplex virus and characterized by itching followed by the appearance of small tense blisters on a red base.
Reiter's syndrome is a combination of arthritis, inflammation of the urethra (urethritis), and conjunctivitis. It is similar to Stevens-Johnson syndrome, but distinguished by a definite burning sensation during urination and the frequent finding of hard, crusted lesions on the feet, hands, and occasionally elsewhere.
Mikulicz syndrome (aphthous stomatitis) is limited to the lips and mouth. It is a disorder without fever, characterized by recurrent red spots that may ulcerate, and last about 2 to 3 weeks at each occurrence.
Behcet's syndrome is a triad of symptoms including lesions of the mouth, ulcerations of the genital mucous membranes, and inflammation of the eyes. The ulcerations are small, but deep and chronic.
Stevens-Johnson syndrome is the most severe form of Erythema Multiforme.
For more information on the preceding disorders, choose "Reiter," "Mikulicz," "Behcet," and "Erythema Multiforme" as your search terms in the Rare Disease Database.
Therapies: Standard
When a cause for Stevens-Johnson syndrome can be found, it should be treated, eliminated or avoided (e.g., drugs or other substances to which the patient is allergic). Local treatment depends on the type of lesion.
Antibiotic therapy and treatment with glucocorticoids may relieve the symptoms and shorten the course of the disease. Glucocorticoids usually are not used if an infection is present.
Infections of the lips and mouth may require special care. Intense oral hygiene is necessary. A mouthwash of sodium bicarbonate solution in warm water can be soothing and cleansing. Rinsing after each meal with elixir of dexamethasone can relieve discomfort and promote healing of nonviral oral lesions. Another mouthwash that can be helpful is a solution of betnesol, zephiran HCl, peppermint oil, lidocaine HCl and tragacanth in water.
Systemic corticosteroids have often been used in Stevens-Johnson syndrome, sometimes with apparent benefit. Intensive systemic antibiotics, fluids and electrolytes may be lifesaving in patients with extensive mucous membrane lesions.
Ophthalmic consultation is required when the eyes are involved. Precautions must be taken to avoid permanent eye damage.
Therapies: Investigational
This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Stevens-Johnson Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
NIH/National Eye Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5248
References
ERYTHEMA MULTIFORME: W. Stewart, et. al., eds; In: Dermatology, Diagnosis and Treatment of Cutaneous Disorders, 3rd ed. Mosby, 1984.
Stevens-Johnson SyndromeG
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Copyright (C) 1987, 1990, National Organization for Rare Disorders, Inc.
421: Stickler Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Stickler Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Arthro-Ophthalmopathy
Epiphyseal Changes and High Myopia
Ophthalmoarthropathy
Weissenbacher-Zweymuller Syndrome
Information on the following disorders can be found in the Related Disorders section of this report:
Marfan Syndrome
Spondyloepiphyseal Dysplasia Congenita
Wagner Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Stickler Syndrome is a genetic disorder inherited as a dominant trait. This disorder is characterized by congenital abnormalities of the eye, a small jaw, and a cleft palate. Degenerative changes in some joints with bone abnormalities may occur early in life. With early treatment, the prognosis may be favorable.
Symptoms
Initial symptoms of Stickler Syndrome may include a broad, flat, sunken bridge of the nose which makes the face look flattened. A cleft palate and small jaw (the Pierre Robin anomaly) may also be present. In addition, sensorineural deafness may develop. Eye defects may include a high degree of nearsightedness (myopia), irregularities of the lens (astigmatism), and changes of the optic disk (where the optic nerve enters the retina). Cataracts, detachment of the retina and blindness may develop during the first decade of life. A form of glaucoma called glaucoma simplex may also occur.
Bone abnormalities in joints such as the ankles, knees and wrists usually occur. During childhood, patients may experience stiffness and soreness after strenuous exercise. Swelling, redness and a feeling of heat may occur occasionally, leading to cracking (crepitation) and temporary locking of joints. Irregularities may be seen on X-rays of the joint surfaces, usually in the vertebral column and the knees. Incomplete dislocation (subluxation) of the hips is another frequent finding. Abnormal development of the cartilage at the ends of long bones (epiphyseal plate) may occur, and loose bony cartilage particles can be present in the joint. Joint hyperextensibility of the finger, knee, and elbow may occur as well as tapering fingers.
Causes
Stickler Syndrome is inherited as an autosomal dominant trait that may be expressed in mild, moderate or severe forms. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.)
Affected Population
Stickler Syndrome is a rare disorder which affects males as well as females.
Related Disorders
Symptoms of the following disorders can be similar to those of Stickler Syndrome. Comparisons may be useful for a differential diagnosis:
Spondyloepiphyseal Dysplasia Congenita (SED Congenita) is a disorder with autosomal dominant inheritance with symptoms which can range from mild to severe. It is characterized by flat facial features, nearsightedness (myopia), retinal detachment, cleft palate, clubfoot, short-trunk dwarfism, a waddling gait and normally sized hands and feet. This disorder is often detectable at birth and may affect males and females in equal numbers. (For more information choose "SED Congenita" as your search term in the Rare Disease Database.)
Wagner Syndrome is inherited as an autosomal dominant disorder that can be expressed in mild, moderate or severe form. It is characterized by facial abnormalities, an underdeveloped jaw, saddle nose, cleft palate, and vision abnormalities. Joint hyperextensibility in the fingers, elbows and knees, and hip deformities may also occur.
Therapies: Standard
Avoidance of excessive physical exertion including contact sports may prevent stiffness and soreness of ankles, knees, and wrists. Detached retinas may be surgically reattached. Genetic counseling will be helpful to families of children with Stickler Syndrome.
Therapies: Investigational
This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Stickler Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Stickler Syndrome Support Group
27 Braycourt Ave.
Walton on Thomas
Surrey KT 12 2 AZ England
The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
NIH/National Eye Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5248
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MANAGEMENT OF RETINAL DETACHMENT IN THE WAGNER-STICKLER SYNDROME: B.M.
Billington, et al.; Transactions Ophthalmol Soc UK (1985: issue 104, pt 8). Pp. 875-879.
STICKLER'S SYNDROME OR HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATH: M.
Vallat, et al.; Journal Fr Ophthalmol (1985: issue 8,4). Pp. 301-307.
THE WAGNER-STICKLER SYNDROME: A STUDY OF 22 FAMILIES: R.M. Liberfarb, et al.; Journal Pediatrics (September 1981: issue 99,3). Pp. 394-399.
Stickler Syndrome
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326: Stiff Man Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Stiff Man Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Muscular Rigidity - Progressive Spasm
Moersch-Woltmann Syndrome
SMS
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Stiff Man Syndrome is a very rare neurological disorder. It is characterized by progressive rigidity and spasm of the voluntary muscles of the neck, trunk, shoulders, and proximal extremities.
Symptoms
Stiff Man Syndrome is characterized by progressive muscular rigidity. Aching and tightness of the voluntary muscles of the body and limbs are usually the first symptoms. Profuse sweating and a rapid heart beat (tachycardia) may accompany the muscle spasms. Muscles of the neck, trunk, shoulders, and proximal extremities may be involved on both sides of the body. During attacks of muscular spasm, contractions such as sharp bending and twitching may occur in the muscles of the hand. Extreme bending of the sole (plantar flexion) may also occur. Affected muscles may become twisted and contracted, resulting in bone fractures in the most severe cases. Persons affected by Stiff Man syndrome may have difficulty making sudden movements and exhibit a waddling gait when walking.
Sleep usually suppresses frequency of contractions. SMS may be progressive and may gradually involve additional muscles of the back and abdomen. Stiffness may increase and patients may develop a hunched posture (kyphosis) or a swayback (lordosis).
Causes
Newly reported studies support the theory that Stiff Man Syndrome is an autoimmune disorder. Onset occurs gradually. Heredity factors have not been established.
The spasms can be triggered by external factors such as sudden noise and emotional stimuli. The attacks of stiffness may be caused by an abnormality deep in the grey mass of the brain (basal ganglion of the Central Nervous System).
Heredity of Stiff Man Syndrome has not been proven, but one research paper has described 10 people affected with the syndrome in 3 generations of one family.
Affected Population
About 70% of persons affected with Stiff Man Syndrome are male adults, about 30% are female. It is a very rare disorder.
Related Disorders
Reflex Sympathetic Dystrophy Syndrome (RSDS) is a disorder which involves pain in nerves, skin, muscles, blood vessels, and bones of one or more extremities. Pain in varying degrees is the primary symptom. (For more information, choose "RSDS" as your search term in the Rare Disease Database.)
Torsion Dystonia (Dystonia Musculorum Deformans, DMD) is an incapacitating neurological disorder which causes patients to develop repetitive twisting and writhing movements. The movements may affect a single muscle, a group of muscles such as those in the arms, legs, or neck, or the entire body. Experts have lately been referring to this disorder as "the Dystonias", indicating a group of related movement disorders rather than a single disorder. (For more information choose "Torsion Dystonia" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Stiff Man Syndrome with diazepam may provide dramatic improvement in many cases. This drug relaxes the muscles.
Therapies: Investigational
Drs. Pietro DeCamilli and Michele Solemana, of Yale University in New Haven, CT, theorize that Stiff-Man Syndrome may be an autoimmune disorder in which the body's natural defenses against invading organisms (e.g., antibodies, lymphocytes) attack synapses in the brain and spinal cord, where a neurotransmitter, gammaaminobutyric acid (GABA), flows between nerve ends. The physicians are studying the use of plasma exchange combined with steroid drugs as a treatment for Stiff Man Syndrome. Plasma exchange (plasmapheresis) is a procedure for removing unwanted substances (toxins, metabolic substances, and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human blood and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis and steroid drugs can be recommended as a treatment for Stiff Man Syndrome.
This disease entry is based upon medical information available through March 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Stiff Man Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Dr. Mark Hallet
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
References
MENDELIAN INHERITANCE IN MAN, 6th ed: Victor A. McKusick; Johns Hopkins University Press, 1983. P. 495.
DICTIONARY OF MEDICAL SYNDROMES, 2nd ed: Sergio I. Magalini and Euclide Scrascia; Lippincott, 1981. P. 558.
AUTOANTIBODIES TO GABA-ERGIC NEURONS AND PANCREATIC BETA CELLS IN STIFF
MAN SYNDROME, Michele Solimena, M.D., et al.; New Eng J Med., (May 31, 1990, issue 322 (2)). Pp. 1555-1560.
Stiff Man Syndromea
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890: Streptococcus, Group B
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** IMPORTANT **
It is possible that the main title of the article (Group B Streptococcus) is not the name you expected. Please check the SYNONYM listing to find the alternate name and disorder subdivisions covered by this article.
Synonyms
GBS
Disorder Subdivisions:
Infant Early-Onset
Infant Late-Onset
Adult Onset
Information on the following diseases can be found in the Related Disorders section of this report:
Infectious Arthritis
Infective Endocarditis
Listeriosis
Meningitis
Osteomyelitis
General Discussion
** REMINDER **
The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Group B Streptococcus is a bacterial infection in which groups of streptococcus bacteria reproduce and multiply (colonize) in the mucous membranes. This bacteria is found most often in the vagina and rectum of females. Group B Streptococci can be transmitted sexually, as well as to a fetus as the infant passes through the birth canal.
The main groups at risk of developing disease from GBS are newborn children of an infected mother, women after childbirth, females after gynecologic surgery and older male and female patients with other serious diseases. The affects of this bacteria on newborn children as well as adults can cause many serious problems.
Symptoms
Infant Early Onset - Early onset of Group B Streptococcus disease occurs in the first seven days of life with more than half of the cases occuring in the first twenty-four hours. Symptoms of early onset Group B Streptococcus disease may be: lung disease in which there are airless air sacs and rigid lungs (respiratory distress), a widened nose, cramps of the rib cage muscles, and build up of fluid in the arms and legs; sudden swelling and inflammation of the lungs (fulminant pneumonia); an absence of automatic breathing (apnea); failure of the heart and blood vessel system (cardiovascular collapse) and/or infection and swelling of the membranes covering the brain and spinal cord (meningitis); fever and/or irritability.
Infant Late Onset - Late onset of Group B Streptococcus disease occurs between seven days and three months after birth. Infection or swelling of the membranes covering the brain and spinal cord (meningitis) is the most common symptom of late onset GBS, occuring in seventy-five percent of the infants with this disease. Other symptoms of late onset GBS may be: irritability or fussiness; bone pain, muscle spasms and fever caused by infection of the bone or bone marrow when Group B Streptococcus enters the bloodstream (osteomyelitis); swelling in the front of the white part of the eye causing red eyes and a thick discharge (conjunctivitis); ear infection or inflammation of the middle ear (otitis media) that may spread to the membranes of the brain and spinal cord; inflammation of the spongy bone that forms most of the walls of the upper part of the nasal cavity (ethmoiditis); an infection in the brain forming a sac filled with pus and surrounded by swollen tissue (brain abscess); swelling and a build up of fluid in the lungs (pneumonia); infection of the skin causing heat, pain, swelling, redness, fever and/or chills (cellulitis); a pus-forming infection of the kidney causing fever, chills, pain, nausea and/or frequent urination (pyelonephritis); infection of the fluid that lubricates joints causing destruction of cartilage and/or joints to freeze (pyarthrosis); and inflammation of the lining of the heart and heart valve causing low back pain, pain in the joints, chills and/or loss of appetite (endocarditis).
Adult Onset - Adult Group B Streptococcus disease occurs mainly in women after childbirth or gynecologic examination or treatment, and elderly male and female patients with other serious diseases such as diabetes mellitus, chronic renal failure, cirrhosis of the liver or malignancy. The most common infections caused by GBS in adults are swelling of the mucous membrane that lines the uterus causing fever, pain in the abdomen, discharge and swelling of the uterus (endometritis); and infection of the kidney causing fever, chills, pain, nausea and frequent urination (pyelonephritis). Other symptoms or illnesses that may occur in adults with GBS are: infection of the skin causing heat over the area, pain, and swelling (cellulitis); inflammation of the membranes around the brain or spinal cord causing fever, headache, nausea, vomiting, a stiff neck and/or aching muscles (meningitis); swelling and a build up of fluid in the lungs (pneumonia); inflammation of the lining of the heart and heart valve causing low back pain, pain in the joints, fever, night sweats, chills, headache, loss of appetite, and/or weight loss (endocarditis); swelling of the membrane that covers the wall of the abdomen causing nausea, pain, a rapid heart beat, chills, fever, and/or rapid breathing (peritonitis); bone pain, muscle spasms and fever caused by the bacteria entering the bloodstream and infecting the bone (osteomyelitis) or bone marrow; and swelling of the joints causing pain (arthritis).
Causes
Group B Streptococcus infection occurs when the bacteria (s. agalactiae) multiply and colonize in the mucous membranes. It tends to occur in certain high risk groups. The three groups that are most at risk of developing disease from this bacteria are newborn babies of infected mothers, women after childbirth or gynecologic surgery, and older patients with other serious diseases.
Affected Population
Group B Streptococcus infection is a prevalent disorder. The GBS bacterial infection is found throughout the world. It has been estimated that 15-35% of all women have the GBS bacteria in the vaginal region and/or intestines. In the majority of cases this bacteria will not cause any symptoms in adult females and as a result, many are not aware that they have it.
Approximately 12,000 babies in the United States get this disease yearly. Group G Streptococcus infection tends to affect newborn babies, women after childbirth and/or gynecologic surgery, and elderly male and female patients with other diseases.
Related Disorders
The following disorders may be associated with Group B Streptococcus or may have other causes. Comparisons may be useful for a differential diagnosis:
Infectious Arthritis is an infection of tissues in a joint by bacteria, viruses or fungi. Symptoms of this disorder depend upon which agent has caused the infection. The symptoms may include fever, chills, general weakness and headaches, followed by inflammation of one or more joints. The affected joint or joints often become very painful, swollen, slightly red and stiff within a few hours or days. Rapid onset of symptoms may indicate that a bacterium is the cause. (For more information on this disorder choose "Infectious Arthritis" as your search term in the Rare Disease Database).
Infective Endocarditis is a bacterial infection of the inner lining of the heart muscle (endocardium). This inner lining also covers the heart valves, and it is these valves which are primarily affected by infective endocarditis. There are several forms of infective endocarditis. Two types that have similar symptoms but are caused by different bacteria are acute bacterial endocarditis and subacute bacterial endocarditis. Acute bacterial endocarditis may affect normal heart valves, while subacute bacterial endocarditis more commonly affects heart valves which have been previously damaged by disease. A third type of infective endocarditis, prosthetic valvular endocarditis (PVE), may develop in patients who have previously had artificial (prosthetic) valve replacement or tissue valve replacement. (For more information on this disorder, choose "Endocarditis " as your search term in the Rare Disease Database).
Listeriosis is a disorder caused by a bacterial infection (Listeria monocytogenes) transmitted to humans through contaminated food products, usually improperly pasteurized milk or cheese. Some cases have been transmitted through contact with other infected persons or animals. Cases range in severity from a transient carrier state with no apparent symptoms, to acute (suddenly occuring) spread of bacteria throughout the blood stream. Listeriosis of pregnancy may exhibit no symptoms or may be marked only by a fever and back pain. This condition can be mistaken for a bacterial infection of the kidney (pyelonephritis). (For more information on this disorder choose "Listeriosis" as your search term in the Rare Disease Database).
Meningitis is a disorder characterized by inflammation of the membranes (meninges) around the brain or spinal chord. The disorder can occur in three different forms: adult, infantile, and neonatal. This inflammation can be caused by different types of bacteria, fungi, or malignant tumors. Chemical reactions to certain injections into the spinal canal can also cause meningitis. In it's acute form the disorder is characterized by fever, headache, a stiff neck and vomiting. (For more information on the disorder choose "Meningitis" as your search term in the Rare Disease Database).
Osteomyelitis is a common infection of the bone caused by bacteria, frequently Staphylococcus. This disorder is usually due to an infection in another part of the body that is transported through the bloodstream to a bone in a distant location. In some cases the cause is unknown. Initially there may be several days of fever and a generalized feeling of ill health. This may be followed by an increase in fever, deep localized bone pain, chills, sweating, swelling and painful or limited movement of the nearby joints. (For more information on this disorder choose "Osteomyelitis" as your search term in the Rare Disease Database).
Therapies: Standard
Group B Streptococcus is diagnosed by isolating the organism from the blood, cerebrospinal fluid, or fluid from the stomach.
Penicillin G and Ampicillin are antibiotic drugs prescribed to treat Group B Streptococcus. Patients allergic to these drugs may be given other antibiotics such as cephalosporins, erythromycin and/or chloramphenicol.
There is now a rapid screen blood test that detects part of the GBS bacterium within hours. This test can detect if the pregnant woman is infected while in labor, allowing the doctor to administer antibiotics immediately in order to prevent the newborn from acquiring GBS.
Therapies: Investigational
Researchers are currently trying to develop a vaccine for Group B Streptococcus so that the infection can be prevented.
This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Group B Streptococcus, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Group B Strep Association
P.O. Box 16515
Chapel Hill, North Carolina 27516
(919) 932-5344
NIH/National Institute of Allergy and Infectious Diseases (NIAID)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
(404) 639-3534
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, Editor-In-Chief; Little, Brown and Co., 1987. Pp. 1647-1648.
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1572-73.
ANTIMICROBIAL PROPHYLAXIS OF NEONATAL GROUP B STREPTOCOCCAL SEPSIS:
Kenneth M. Boyer, et al.; Clinics in Perinatology; (December 1988, issue 15(4)). Pp. 831-51.
Streptococcus, Group B
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809: Stroke
_________________________
** IMPORTANT **
It is possible that the main title of the article (Stroke) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Apoplexy
Cerebrovascular Accident
Cerebrovascular Disease
Disorder Subdivisions:
1) Infarct stroke
a. thrombotic stroke
b. embolic stroke
2) Hemorrhagic stroke
Information on the following disorders can be found in the Related Disorders section of this report:
Transient Ischemic Attack (TIA)
Vascular Malformations
Bell's Palsy
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Stroke is one of the most common neurological conditions affecting the central nervous system. Stroke is caused by a blockage of blood flow to part of the brain. This may happen because of a blood clot (embolus, cerebral thrombosis), or because of the bursting of an aneurysm (a ballooned area of a blood vessel) in the brain.
Temporary strokes may occur due to constriction of arteries from atherosclerosis (also known as "arteriosclerosis" or "hardening of the arteries"), heart irregularities, blood disorders or massive loss of blood.
Symptoms
Each type of stroke has its own symptoms, progression, and prognosis depending upon the area of brain affected.
Clumsiness, headaches, speech difficulties, weakness or paralysis usually of one side of the body may occur in infarct strokes. In thrombotic strokes, the symptoms may progress in stages starting with a feeling of clumsiness and leading eventually to paralysis. In embolic strokes, all the symptoms occur within seconds or minutes, striking without warning or pain.
A sudden severe headache progressing to a stiff neck, nausea, vomiting, and unconsciousness are symptoms of a hemorrhagic stroke.
Other symptoms of stroke may include difficulty in breathing, clammy skin, and/or confusion.
Causes
A stroke occurs because the blood supply to the brain has been cut off or decreased. Thrombotic strokes occur when a blood clot has narrowed or completely closed an artery in the neck or head. This may be due to atherosclerosis or "hardening of the arteries" which is the buildup of fat-containing materials and calcium (plaque) on the inner linings of blood vessels. Embolic strokes occur when a blood clot breaks away from a diseased artery in another part of the body and clogs a smaller artery in the brain. Hemorrhagic strokes occur when a blood vessel ruptures in or around the brain, depriving that area of its blood supply.
Temporary strokes may occur due to constriction of arteries due to atherosclerosis, heart irregularities, anemia, massive blood loss, or sometimes in patients with subacute endocarditis who have damaged heart valves.
Diabetes may increase the risk of stroke. In the person with diabetes, there is a malfunction in the production of insulin. Heart and blood vessel diseases such as heart attack, hardening of the arteries (arteriosclerosis), and stroke, are the leading causes of illness, disability and death among diabetics. Persons with diabetes are twice as likely to suffer from coronary heart disease and stroke, and five times as likely to suffer from arterial disease of the limbs than the non-diabetic population. Exactly how diabetes damages the cardiovascular system is not yet clear. (For more information on this disorder, choose "Diabetes" as your search term in the Rare Disease Database).
Other risk factors for stroke are hypertension (high blood pressure), atherosclerosis (arteriosclerosis or "hardening of the arteries"), heart disease, obesity (especially when combined with high blood pressure or diabetes), lack of exercise, emotional stress, hereditary disorders that cause high levels of fat or cholesterol, and certain blood disorders such as sickle cell anemia and polycythemia. (For more information on these disorders choose "hypertension," "hypercholesterol," "hyperlipoproteinemia," "sickle cell" or "polycythemia" as your search terms in the Rare Disease Database).
When birth control pills are used for a long time, especially by women who smoke, there is an increased possibility of forming blood clots that may lead to stroke. Moreover, people who form blood clots due to accident, injury or illness must be vigorously treated with medications that dissolve blood clots in order to assure that the clot will not travel to the brain where it can cause a stroke.
The role of hereditary factors in stroke has not yet been established.
Affected Population
Stroke tends to affect the elderly, males, and black people more than the general population. 80% of stroke patients are over the age of 65. Alcoholics, drug abusers, patients with atherosclerosis, diabetes or high blood pressure, and people who smoke also have a greater risk of stroke. People who have had a stroke are at a greater risk of having another one.
In 1986, 400,000 Americans had a stroke. However, stroke is occurring less often now, possibly because there is improved treatment for hypertension, diabetes and other disorders, and because Americans have a greater interest in preventative health measures such as cholesterol screening and low-fat diets.
Related Disorders
Symptoms of drug abuse or drug reactions, some types of brain tumors, patients who are emerging from an epileptic seizure, or symptoms of head injury can be similar to those of stroke.
Bell's Palsy is characterized by sudden onset of facial paralysis resulting from ischemia (decreased blood supply) to part of the head and compression of the facial nerve (cranial nerve VII). It is not progressive. Part or all of the face may be affected. The affected muscles usually regain their function after one to two months, although in cases of extensive nerve damage, all or part of the paralysis may be permanent. (For more information of this disorder, choose "Bell's Palsy" as your search term in the Rare Disease Database).
The following disorders may precede or increase the risk of developing stroke:
A transient ischemic attack (TIA) often indicates an impending stroke, which may occur shortly after the TIA or as much as five years later. Symptoms include passing numbness; tingling or weakness in an arm, leg, or on one side of the face; temporary blindness in either one or both eyes; or difficulty with speech for a short period of time. Other possible symptoms are headache, nausea, dizziness, vomiting, or drowsiness which occur for no apparent reason or appear to be unusual. Poor judgement or forgetfulness, and unusual personality changes may be other indications of TIA. If these types of symptoms occur, it is important to seek medical care at once.
Vascular Malformations are abnormal blood vessels. When they occur in the brain, they are classified into arteriovenous malformations (abnormal arteries and veins), cavernous malformations (enlarged channels of blood vessels), venous malformations (abnormal veins), and the telangiectasias (enlarged capillary-sized vessels). These types of malformations in the brain may cause recurrent headaches, seizures and hemorrhaging. Hemorrhaging in the brain can cause strokes. (For more information on these disorders, choose "Vascular malformation" and "AVM" as your search terms in the Rare Disease Database).
Therapies: Standard
CT scans and angiograms (arteriograms) are diagnostic tests that show the brain's tissues and blood vessels to determine whether a person has had a stroke. Other diagnostic tests include computer-coded X-ray images of the brain's arteries (digitized intravenous ateriography, or DIVA), and a technique that uses soundwaves to find defects in the arteries of the neck that supply blood to the brain (ultrasonography).
Right after an infarct stroke, anticoagulant drugs such as heparin and warfarin may be used to stop blood clots. In some cases aspirin may be prescribed. Aspirin taken in small amounts can prevent blood clots from forming, but it should be taken under supervision of a physician because it can cause stomach ulcers as well as retard the ability of blood to clot normally.
Right after a hemorrhagic stroke, drugs to help clotting at the site of the rupture may be prescribed. Drugs to reduce brain swelling or relieve high blood pressure may also be used.
Occasionally, surgery may be necessary in hemorrhagic stroke patients to remove aneurysms (part of a blood vessel wall that has abnormally widened or stretched), or to remove large clots. Patients who have had a stroke because of atherosclerosis occasionally require surgery to remove the plaque that has narrowed the interior of the arteries.
Treatment may also include exercise, speech therapy and physical therapy depending upon the symptoms remaining after the stroke has occurred.
With proper medical care, most strokes can be prevented with medications and/or diet in people with atherosclerosis, high blood pressure and diabetes.
Therapies: Investigational
Research on improved treatments and prevention of stroke is being conducted at cerebrovascular clinical research centers.
This disease entry is based upon medical information available through August 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Stroke, please contact:
National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Stroke Association
8480 E. Orchard Rd., Suite 1000
Englewood, CO 80111-5015
(303) 771-1700
The Stroke Foundation, Inc.
898 Park Avenue
New York, NY 10021
(212) 734-3434
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
To locate centers that specialize in rehabilitation of stroke patients, contact:
National Easter Seal Society
70 East Lake Street
Chicago, IL 60601
(312) 726-6200
(312) 726-4258 (TDD)
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2159.
THE MERCK MANUAL, Volume 1, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp, and Dohme Laboratories, 1982. Pp. 1381-1389.
WORLD BOOK MEDICAL ENCYCLOPEDIA: Erich E. Brueschke, M.D., et al, eds; World Book, Inc., 1988. Pp. 834-836.
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306: Sturge-Weber Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Sturge-Weber Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Dimitri Disease
Encephalofacial Angiomatosis
Encephalotrigeminal Angiomatosis
Leptomeningeal Angiomatosis
Meningeal Capillary Angiomatosis
Sturge-Kalischer-Weber Syndrome
Sturge-Weber Phakomatosis
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Sturge-Weber Syndrome is composed of three major symptoms: Excessive blood vessel growths (leptomeningeal angiomas) are accompanied by accumulations of calcium inside the brain, and seizures. Facial birth marks (nevus flammeus) appear usually on one side of the face. Angiomas similar to those found in the brain can develop inside the eye, often with secondary glaucoma.
Symptoms
Nevus Flammeus is a discoloration on the face which is the red color of port wine. In Sturge-Weber Syndrome this "port wine stain" is noted at birth and generally occurs on the same side of the head as the excessive blood vessel growths (leptomeningeal angiomatoses) in the brain which are accompanied by accumulations of calcium (intracranial calcifications). The port wine stain primarily occurs along the distribution of the trigeminal nerve in the face, although in some cases it does not appear at all. Approximately thirty seven percent of patients have portwine stains on both sides of the face. Involvement of the extremities or trunk, in addition to the face, occurs in up to thirty-six percent of patients. Although the discoloration usually affects only one side of the face, a slight extension over the midface occurs in approximately fifty percent of cases. The port wine stain tends to deepen in color with age, and nodular elevations may also develop.
Port wine stains on the lips and mucous membranes lining the mouth are present in approximately twenty five percent of patients. Overgrowth of tissue may develop inside the mouth as well, and may be further increased as a side effect of the drug phenytoin when it is used to treat seizures.
Seizures occur in approximately fifty five to ninety seven percent of patients, usually beginning during the first year of life. These tend to become more frequent and severe with age. A form of paralysis (hemiparesis or hemiplegia) occurs in thirty percent of patients. Mental disturbances occur in fifty to sixty percent of patients.
Eye problems occur in approximately forty percent of patients on the same side of the head as the portwine stain and clumps of blood vessels (leptomeningeal angiomatosis) accompanied by intracranial calcifications. These eye problems do not tend to occur in Sturge-Weber patients who have no portwine stains. Glaucoma occurs in approximately thirty percent of patients. In most of these cases glaucoma is present at birth accompanied by enlargement of the eyeball (buphthalmos), but it may begin anytime before (and/or) after the age of two years. Other eye anomalies include clumps of blood vessels (angiomas) in the membranes that line the inner surface of the eyelids (conjunctiva), choroid and cornea; loss of vision in half the visual field in one or both eyes (hemaniopsia); eyes of two different colors (i.e., one blue eye and one brown eye); an abnormal accumulation of fluid inside the eyeball causing enlargement (hydrophthalmos); optic atrophy; clouding (opacification) or displacement of the lens; retinal detachment; streaks resembling blood vessels (angioid streaks); or loss of sight due to an organic lesion in the visual cortex (cortical blindness).
Sturge-Weber Syndrome patients may also have other blood vessel or nerve abnormalities. Excess deposits of calcium may be found in the brain, retina, lungs, thyroid, intestines, and liver. Klippel-Trenaunay Syndrome with port wine stain (nevus flammeus) of the extremities can also occur in conjunction with Sturge-Weber Syndrome. (For more information on Klippel-Trenaunay Syndrome, please choose "Klippel" as your search term in the Rare Disease Database). Some patients with Tuberous Sclerosis, Neurofibromatosis, and Wyburn-Mason Syndrome also appear to concurrently have Sturge-Weber Syndrome. Ocular or Oculocutaneous Melanosis (Phakomatosis Pigmentovascularis, type II-B) has been associated with Sturge-Weber in a small number of patients. Melanosis is an abnormal dark brown or black-brown pigmentation in various tissues or organs. (For more information on any of these disorders, please choose the appropriate name as your search term in the Rare Disease Database).
Causes
The exact cause of Sturge-Weber Syndrome is unknown. In some it is believed to be an autosomal dominant hereditary disorder. It may also be caused by trauma sustained early during fetal life.
(Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.)
Affected Population
Sturge-Weber Syndrome is a rare disease affecting only a few thousand people in the United States. It occurs in both females and males. Onset occurs before birth.
Related Disorders
Neurofibromatosis (NF) is a genetically determined disorder with highly variable symptoms which can affect many body systems. Onset usually occurs in childhood. The disease usually becomes more active at puberty, during pregnancy, and at menopause. The most prominent symptoms are tumors under the skin which can result in disfigurement and other complications. (For more information, choose "Neurofibromatosis" as your search term in the Rare Disease Database.)
Tuberous Sclerosis is a congenital disorder associated with benign tumors of the brain, skin lesions, and occasional involvement of other internal organs. It is most often characterized by two neurological symptoms -epileptic seizures and varying degrees of mental retardation. (For more information, choose "Tuberous Sclerosis" as your search term in the Rare Disease Database.)
Von Hippel-Lindau Syndrome is a possibly hereditary disorder characterized by angioma of the retina associated with a benign tumor. The tumor is composed of newly formed blood vessels (hemangioma) in the central nervous system. (For more information on this disorder, choose "Von Hippel" as your search term in the Rare Disease Database.)
Therapies: Standard
Treatment of Sturge-Weber Syndrome is symptomatic and supportive. The port wine stain (hemangioma) can be treated with the use of a new type of laser known as the "flash pump dye" laser. The energy emissions fade or remove the stains making them less noticeable and in some cases "coverable" by makeup. The argon laser, used until recently to treat port wine stains, can cause crusting, scabbing and scarring of the stain. It can also cause enough pain to require local anesthesia. The flash pump dye laser can be used on young children as young as one month of age with port wine stains because it is relatively painless and eliminates any lasting effects on the skin. Contact the Sturge-Weber Foundation (listed in the Resources section) for a laser center near you.
Seizures may be controlled in many patients by anticonvulsants. Special education services are commonly required for Sturge-Weber children. Genetic counseling and physical therapy may benefit patient and family.
Therapies: Investigational
Clinical trials involving Sturge-Weber Syndrome include the following projects:
Children under the age of one year with Sturge-Weber Syndrome and seizures are being examined with the Positron Emission Tomography (PET) scan by Harry T. Chugani, M.D., under a grant from the National Institutes of Health. Dr. Chugani is seeking to identify patients with controlled seizures who might benefit from removal of one of the hemispheres of the brain (hemispherectomy). Physicians may contact:
Dr. Harry T. Chugani
UCLA Medical Center
Department of Pediatric Neurology
10833 LeConte
Los Angeles, CA 90024-1752
(215) 825-5946
Dr. Eva Sujansky of Children's Hospital, Denver, CO, is conducting chromosome research on Sturge-Weber Syndrome. Dr. Sujansky is director of the Sturge-Weber Clinic at Children's Hospital.
Dr. Eva Sujansky
TCH-Denver
1056 E. 19th Ave., Box B-300
(303) 861-6395
Research on Port Wine Stains is also being pursued by:
Dr. Odile Enjolras
Dept. of Dermatology
Hospital Tarnier
Paris, France
The Flashlamp-Pulsed Tunable Dye Laser is showing very good results in the treatment of port wine stain in the skin of children under age eighteen. This treatment has shown little or no side effects.
This disease entry is based upon medical information available through March 1993. Since NORD's resources are limited, it is not possible to keep every in the Rare Disease Database completely current and accurate. Please with the agencies listed in the Resources section for the most current about this disorder.
Resources
For more information on Sturge-Weber Syndrome, please contact:
National Organization for Rare Disorders (NORD)
Box 8923
Fairfield, CT 06812-1783
746-6518
The Sturge-Weber Foundation
P.O. Box 460931
Aurora, CO 80046
(303) 360-7290
(800) 627-5482
Sturge-Weber Support Group
2036 Ridgewood Way
Bountiful, UT 84010
(801) 292-8228
(801) 292-6639
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 6th ed.: Victor A. McKusick; Johns Hopkins Press, 1983. P. 498.
BIRTH DEFECTS COMPENDIUM, 2nd ed.: Daniel Bergsma; March of Dimes, 1979. 1987.
Sturge-Weber Syndrome
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Copyright (C) 1986, 1987 National Organization for Rare Disorders, Inc.
185: Subacute Sclerosing Panencephalitis
_________________________
** IMPORTANT **
It is possible the main title of the article (Subacute Sclerosing Panencephalitis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
SSPE
Decerebrate Dementia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Subacute Sclerosing Panencephalitis (SSPE) is a progressive life threatening neurological (brain) disorder occuring months to years (usually years) after an attack of measles. It is characterized by mental deterioration, myoclonic (shocklike) jerks, and seizures.
Symptoms
Subacute Sclerosing Panencephalitis usually begins before the age of 20 years. Often the first signs are failing schoolwork, forgetfulness, temper outbursts, distractibility, sleeplessness, and hallucinations. Myoclonic jerks (sudden flexion movements of the extremities, head and trunk) and grand mal seizures may follow the mental and behavioral changes.
Patients suffering from SSPE show further intellectual decline, changes in speech and abnormal involuntary movements. Distortion and twisting of the body, head and extremities may appear temporarily. Later, rigidity of the body muscles, difficulty in swallowing, cortical blindness, and optic atrophy may occur. In the advanced phases of SSPE, the patient becomes increasingly rigid, with intermittent signs of hypothalamic involvement (i.e., high body temperature, profuse perspiration, and disturbance of pulse and blood pressure).
The disease can become life threatening within 1 to 3 years, often as the result of terminal bronchial pneumonia due to inactivity or aspiration of food. Sometimes, it has a more protracted course, with pronounced neurological deficits. A few patients may have remissions and exacerbations.
Causes
The cause of Subacute Sclerosing Panencephalitis is unknown; possibly SSPE is caused by a virus. Usually there has been a history of mumps or measles 2-10 years prior to the onset, but these childhood illnesses are common in the general population. There have been cases where patients have had contact with pets such as monkeys, dogs or kittens which later have died from the illness.
Affected Population
Subacute Sclerosing Panencephalitis occurs in children and adolescents usually before the age of 20 years.
Related Disorders
Progressive Multifocal Leukoencephalopathy is an infection of the brain by a normally nonpathogenic virus. Symptoms include unilateral bodily weakness, visual impairment and an alteration in the state of consciousness.
Inclusion Body Encephalitis is a brain infection with gradual onset mostly in children under 12 years of age. Symptoms include deterioration in schoolwork, muscle jerks of the trunk and extremities, and loss of speech.
Therapies: Standard
Generally, treatment of the symptoms of Subacute Sclerosing Panencephalitis with anticonvulsants and supportive measures can be helpful. A number of antiviral agents have not proven helpful. Isolated reports about the effectiveness of isoprinosine have not been documented in controlled clinical trials.
Therapies: Investigational
This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Subacute Sclerosing Panencephalitis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National SSPE Registry
University of Alabama School of Medicine
Department of Neurology
2451 Fillingim St.
Mobile, AL 36617
(205) 471-2159
NIH/National Institute of Allergy and Infectious Diseases (NIAID)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
References
THE MERCK MANUAL, 15th ed., Robert Berkow, M.D., ed in chief, published by Merck, Sharp & Dohme Research Labs, Rahway, NJ, 1987. Pp. 1401, 2023, 2041.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2203, 2206-7.
Subacute Sclerosing Panencephalitis
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185: Subacute Sclerosing Panencephalitis
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Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.
626: Sucrose-Isomaltose Malabsorption, Congenital
_________________________
** IMPORTANT **
It is possible that the main title of this article (Congenital Sucrose-Isomaltose Malabsorption) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Disaccharide Intolerance I
Sucrase-alpha-Dextrinase Deficiency, Congenital
Sucrase-Isomaltase Deficiency, Congenital
Sucrose Intolerance, Congenital
Information on the following disorder can be found in the Related Disorders section of this report:
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report.
Congenital Sucrose-Isomaltose Malabsorption is a genetic metabolic disorder characterized by an inborn deficiency of the enzyme sucrase-isomaltase. This deficiency causes diarrhea if table sugar (sucrose) or certain other carbohydrates are eaten.
Symptoms
Congenital Sucrose-Isomaltose Malabsorption is characterized primarily by diarrhea. Children with this disorder may be unable to gain weight on a normal diet. Adults may experience abdominal cramps and bloating, and excessive gas (flatus) when sugar or other carbohydrates are eaten. Diarrhea may be severe enough to purge other nutrients before they can be absorbed.
Causes
Congenital Sucrose-Isomaltose Malabsorption is a hereditary disorder transmitted through autosomal recessive genes. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, he or she will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.)
Affected Population
Congenital Sucrose-Isomaltose Malabsorption is a rare disorder affecting children from birth. Males and females are found to have this disorder in equal numbers. Some patients may be only mildly affected while others may have a moderate to severe form of the disorder.
Related Disorders
Symptoms of the following disorder can resemble those of Congenital Sucrose-Isomaltose Malabsorption. Comparisons may be useful for a differential diagnosis:
Lactose Intolerance (Disaccharide Intolerance II; Lactase Deficiency). Malabsorption syndromes result from impaired absorption of nutrients from the small bowel. Lactose Intolerance is characterized by diarrhea and abdominal distention. A lack of the lactase enzyme results in an inability to digest lactose which is a type of sugar found in milk. Avoiding milk products makes it possible for patients with Lactose Intolerance to lead normal lives, although the disorder may get worse with age. (For more information, choose "Lactose" as your search term in the Rare Disease Database.)
Therapies: Standard
Congenital Sucrose Isomaltose Malabsorption is treated by administering the sucrase-isomaltase enzyme derived from a type of yeast. A carefully controlled diet should avoid sucrose and sucrose containing foods.
Therapies: Investigational
This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Congenital Sucrose-Isomaltose Absorption, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Digestive Diseases Information Clearinghouse
Box NDDIC
Bethesda, MD 20892
(301) 468-6345
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Rd.
Crewe CW1 1XN, England
Telephone: (0270) 250244
For genetic information and genetic counseling referrals, please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
ENZYME-SUBSTITUTION THERAPY WITH THE YEAST SACCHAROMYCES CEREVISIAE IN
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY: H.K. Harms, et al.; New England Journal Med (May 21, 1987: issue 316(21)). Pp. 1306-1309.
THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1731-1733.
Sucrose-Isomaltose Malabsorption, Congenital;
pagetitle
626: Sucrose-Isomaltose Malabsorption, Congenital
04244.TXT
Copyright (C) 1986, 1987, 1991 National Organization for Rare Disorders, Inc.
194: Sudden Infant Death Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Sudden Infant Death Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
SIDS
Cot Death
Crib Death
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Sudden Infant Death Syndrome (SIDS) is the sudden death of any infant or young child which is unexpected by history and in which no adequate cause for death can be found. The disorder occurs in children under the age of one year.
Symptoms
Infants with Sudden Infant Death Syndrome are pale or may have bluish skin as a result of receiving insufficient oxygen, are limp, and are not breathing during a time when they are presumed to be sleeping.
Causes
The cause of Sudden Infant Death Syndrome is not understood. It may be caused by prolonged apnea (cessation of breathing) during sleep or other still unknown causes. SIDS is responsible for the death of approximately 7,000 infants each year in the United States. It has been estimated that, annually, up to two deaths per 1,000 live births will be the direct result of SIDS.
A relationship between SIDS and DPT vaccinations has been ruled out in a study conducted during the early 1980's.
In 1990 researchers discovered that a few babies who had died of SIDS lacked a certain enzyme that is needed to break down short-chain fatty acids. The beta oxidation defects cause fatty change in the liver muscle and swelling of the brain. They suspect that this defect may only cause symptoms after a long period of fasting (not eating) which triggers low blood sugar and high concentrations of lactic acid in these children. The enzyme deficiency is inherited. However, more research is needed to confirm this theory.
Affected Population
Sudden Infant Death Syndrome occurs in children under one year of age.
Seventy-five percent of deaths occur between two to six months of life. Only very rarely does the condition occur in the first 3 weeks of life or beyond the end of the first year.
Therapies: Standard
To prevent Sudden Infant Death Syndrome, home apnea/cardiac monitors may be used for children who are suspect for the disorder from family history. Respiratory stimulants such as theophylline or caffeine are sometimes prescribed, and medical or surgical therapy is used to correct abnormalities such as gastroesophageal reflux (return flow of stomach contents into the esophagus). Another form of therapy is cardiopulmonary resuscitation if the child stops breathing.
The Food & Drug Administration has warned that availability of home apnea/cardiac monitors has led parents to purchase these machines with no reason to suspect that their infant is at risk for SIDS. Apnea/cardiac monitors should be purchased only under the advice of a physician who is knowledgeable about the effectiveness and safety of these devices.
Therapies: Investigational
This disease entry is based upon medical information available through March 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Sudden Infant Death Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National SIDS Clearinghouse
3520 Prospect St., Ground Floor, Suite 1
Washington, DC 20057
(202) 625-8410
National Sudden Infant Death Syndrome Foundation (NSIDSF)
Two Metro Plaza, Suite 205
8240 Professional Place
Landover, MD 20785
(301) 459-3388
(800) 221-SIDS
Council of Guilds for Infant Survival
P.O. Box 3841
Davenport, IA 52808
(319) 322-4870
United SIDS Awareness Inc.
Family and Friends of Sudden Infant Death Syndrome Victims
International Headquarters
3901-3 West Dakin Street
Chicago, IL 60618
(312) 583-3786
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
References
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1888, 1921.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 2079.
Sudden Infant Death Syndrome+
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194: Sudden Infant Death Syndrome
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Copyright (C) 1986 National Organization for Rare Disorders, Inc.
203: Sutton's Disease II
_________________________
** IMPORTANT **
It is possible the main title of the article (Sutton's Disease II) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
von Mikulicz's Aphthae
Periadenitis Mucosa Necrotica
Recurrent Scarring Aphthae
Major Aphthous Ulcer
Major Ulcerative Stomatitis Major Canker Sore
Recurrent Aphthous Ulcer
Von Zahorsky's Disease
Recurrent Aphthous Stomatitis
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Sutton's Disease II, also known as Recurrent Aphthous Stomatitis, is characterized by recurrent and painful attacks of major canker sores in the mouth (aphthous stomatitis). This disorder of unknown cause affects both males and females.
Symptoms
The major ulcers in the mouth of Sutton's Disease II vary in size from 7 to 15 mm. Up to 15 ulcers may be present at once in affected individuals. The ulcers begin as a shallow oval erosion or kind of ulceration filled with a slightly yellowish opaque material. This material is composed of coagulated tissue fluids, oral bacteria and white blood cells. The ulcers leave scarring when they heal.
Causes
The precise cause of Sutton's Disease II is unknown, but several factors point toward a localized immune reaction. Deficiencies of iron, vitamin B12, and folic acid increase susceptibility to the disease. Stress is usually the predominant factor which triggers the attacks.
Affected Population
Sutton's Disease II affects males and females equally before puberty; after puberty, females are affected in greater numbers than males. The disease occurs most frequently in undernourished children and weakened adults.
Related Disorders
Pemphigus is the name of a distinctive group of skin disorders characterized by successive crops of bullae (blisters). (For more information on Pemphigus, choose "Pemphigus" as your search term in the Rare Disease Database. Herpetic ulcers of the mouth, caused by a herpes virus, occur mainly on the immovable mucosa (hard palate and attached gums), while the aphthae of Sutton's Disease II rarely appear in those locations.
Therapies: Standard
Treatment of Sutton's Disease II involves application of a topical anesthetic such as 2% lidocaine viscous or as an oral rinse providing short-time relief and facilitating eating. A dental protective paste such as OrabaseR prevents teeth, dental appliances and oral fluids from irritating the ulcers. Application of triamcinolone acetonide in emollient dental paste (a soothing agent) reduces discomfort and promotes healing. Tetracycline oral suspension may be used to treat multiple lesions. If started early after onset of the disease, symptomatic relief may occur during the first day of treatment and new lesions may be aborted. Treatment must be repeated for each new attack.
Occasionally, this therapy may result in oral candidiasis which is an infection caused by a fungus of the genus Candida.
Therapies: Investigational
This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Sutton's Disease II, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Dental Research
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4261
References
THE MERCK MANUAL, 15th ed., Robert Berkow, M.D., ed in chief, published by Merck, Sharp & Dohme Research Labs, Rahway, NJ, 1987. Pp. 2325.
THE CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden and Lloyd H. Smith, Jr., Eds; W.B. Saunders Co., 1988. Pp. 675-676, 1664, 2347.
Sutton's Disease II
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203: Sutton's Disease II
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Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
424: Sweet Syndrome
_________________________
** IMPORTANT **
It is possible the main title of the article (Sweet Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Febrile Neutrophilic Dermatosis, Acute
Information on the following disorders can be found in the Related Disorders section of this report:
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Sweet Syndrome is a rare skin disorder characterized by painful red eruptions usually on the arms, face, neck, and legs. The exact cause of this disorder is not known, although it may be associated with an injury to the skin.
Symptoms
Major symptoms of Sweet Syndrome are tender or painful skin eruptions and generalized discomfort (malaise). Skin lesions usually occur on the arms, but also on the face, neck, legs, and occasionally the thighs and trunk. The lesions may be up to an inch in diameter. They are usually bluish-red, irregular, flat or raised, sharply outlined, circular, and/or hardened, with a rounded edge. Blisters or bacteria-free pimples usually cover the plaques. Scarring is usually absent. Fever may occur. Protein in the urine is sometimes present. Remission may occur after a few weeks, but recurrences are possible. Tests usually reveal infiltration of white blood cells called neutrophils in the skin. On rare occasions, the female genital tract (vagina and uterus) may be involved.
Causes
The exact cause of Sweet Syndrome is not known. Possibly it is an allergic reaction to an unknown agent. The disorder may be associated with an injury to the skin such as vaccination or a scrape. An upper respiratory or skin infection may also precipitate Sweet Syndrome.
Affected Population
Sweet Syndrome affects mainly middle aged females, but it may also affect men, infants and children in rare cases. It is a rare disorder.
Related Disorders
Symptoms of the following disorders can be similar to those of Sweet Syndrome. Comparisons may be useful for a differential diagnosis:
Erythema Multiforme is an inflammatory skin disorder characterized by symmetric, red, blistery lesions appearing on the skin of the hands and feet. Mucous membranes and skin of the eyelids may also be affected. (For more information on this disorder, choose "Erythema Multiforme" as your search term in the Rare Disease Database.)
Erythema Elevatum Diutinum is possibly a variant of Erythema Multiforme. It is a rare chronic skin disorder usually occurring in adults between 30 and 60 years of age. This disorder may be associated with recurrent polyarthritis and is characterized by symmetric nodules and plaques near the joints. These lesions commonly appear on the back of the hands and feet. The size of the lesions may vary over the course of a day.
Leiner Disease is a skin disorder which usually occurs during the first two months of life. A reddish patch of thickened skin appears first on the buttocks and spreads to other parts of the infant's body. Scaling and peeling may occur as well as anemia, itching and diarrhea. The redness and scaliness usually decrease after a few weeks with treatment. (For more information on this disorder, choose "Leiner" as your search term in the Rare Disease Database.)
Ritter Disease (Dermatitis Exfoliativa Neonatorum) is a skin disorder affecting infants which is usually caused by a bacterial infection. Reddened skin may peel leaving raw areas which heal in dry crusty yellow patches. This disorder may follow upper respiratory infections, impetigo, or other improperly treated skin infections.
Therapies: Standard
Sweet Syndrome may go into spontaneous remission after a few weeks even without treatment. Systemic steroid drugs such as prednisone may produce dramatic improvement.
Therapies: Investigational
The investigational drug dapsone has been used experimentally to treat Sweet Syndrome. However, more research is needed before this drug can be prescribed for general use.
This disease entry is based upon medical information available through October 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Sweet Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
References
ACUTE FEBRILE NEUTROPHILIC DERMATOSIS. SWEET'S SYNDROME: M.A. Bechtel, et al.; Archives Dermatol (October 1981: issue 117,10). Pp. 664-666.
SWEET'S SYNDROME: HISTOLOGICAL AND IMMUNOHISTOCHEMICAL STUDY OF 15 CASES: J.J. Going, et al.; Journal Clin Pathol (February 1987: issue 40,2). Pp. 175-179.
ACUTE FEBRILE NEUTROPHILIC DERMATOSIS: SWEET'S SYNDROME: H. Chmel, et al.; South Med Journal (November 1978: issue 71,11). Pp. 1350-1352.
Sweet Syndrome
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424: Sweet Syndrome
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2Copyright (C) 1991 National Organization for Rare Disorders, Inc.
842: Syphilis, Acquired
_________________________
** IMPORTANT **
It is possible that the main title of the article (Acquired Syphilis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article.
Synonyms
Lues
Venereal Disease
Information on the following diseases can be found in the Related Disorders section of this report:
Behcet's Syndrome
Bejel
Candidiasis
Chancroid
Congenital Syphilis
Herpes Progenitalis
Pinta
Yaws
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Syphilis is a chronic infectious disease caused by a microorganism (treponema pallidum). It is transmitted by direct contact with an infected lesion, usually through sexual intercourse. When untreated, Syphilis progresses through primary, secondary and latent stages. Symptoms can remain dormant for years. Eventually any tissue or vascular organ in the body may be affected.
Syphilis may also be acquired by the fetus in the uterus or before birth (Congenital Syphilis). Syphilis can be cured with appropriate treatment.
Symptoms
Untreated Syphilis progresses through primary and secondary stages (which are infectious), and may end without further symptoms or continue to progress into a latent stage that may last for years.
Primary Syphilis is characterized by lesions (chancres) of the skin, anus, vagina or moist surface of the mouth. These lesions present themselves from 10 to 90 days after the patient has been exposed to the organism and are found at the sight of contact with the infected person. The lesions are usually painless and start as small, solid elevations (papules) of the skin which gradually develop into raised, firm ulcers with a slight yellow discharge. When untreated these lesions heal within four to six weeks and may leave scarring.
Secondary Syphilis usually presents itself within two weeks to six months after the appearance of the primary lesions. This stage of the disorder is characterized by lesions of the skin and mucous membranes that may be pink or coppery in color, widespread, symmetrical, and follow the lines of skin cleavage. The skin lesions of secondary Syphilis are infectious and most often found on the genitalia, palms, and soles of the feet. Symptoms such as loss of appetite, sore throat, headache, low-grade fever, muscle aches, nasal discharge, and swollen lymph nodes may occur. There is a relapse in twenty five percent of the untreated cases, occuring most often in the first year. Secondary Syphilis usually lasts two to six weeks and some of the lesions may leave scarring.
Latent Syphilis occurs when Primary and Secondary Syphilis have gone untreated. There are no noticeable symptoms, and the diagnosis can only be made through laboratory tests. Patients may relapse during the first two to four years of infection, and infectious Secondary Syphilis lesions may reappear. In about one third of the cases the disease spontaneously cures itself. Another third will remain infected but show no signs of the disease. The final third will eventually develop late Syphilis.
Late Syphilis is not contagious and usually progresses slowly. Benign (non-contagious) tumors may develop on any part of the body. These tumors usually involve the skin and bones. Cardiovascular problems, seizures, personality changes, impotence, bladder dysfunction, and eye problems such as optic atrophy and Argyll Robertson pupils (a pupil that fails to react to light but still reacts to distance) may also be present with late Syphilis. Dementia and blindness may result.
Causes
Syphilis is caused by the microorganism treponema pallidum and acquired through sexual contact with an infected person. Occasionally health workers have become infected while examining patients with infectious lesions. It may also be acquired by kissing someone with oral infectious lesions. Infected mothers can transmit Syphilis to the fetus in the womb. (For more information on Congenital Syphilis choose "Syphilis, Congenital" as your search term in the Rare Disease Database.)
Affected Population
There are about 80,000 cases of Syphilis reported each year in the United States. The highest rate of Syphilis is among 20 to 24 year old men and women. It is more common among persons who have sexual contact with numerous partners. The ratio of male:female cases of infectious Syphilis is currently 3:1. There has been a dramatic increase in Congenital Syphilis during recent years due to the use of "crack" cocaine and the increase in prostitution to support drug abuse.
Related Disorders
Symptoms of the following disorders can be similar to those of Acquired Syphilis. Comparisons may be useful for a differential diagnosis:
Behcet's Syndrome is a relapsing inflammatory disease with unknown cause. The most common symptoms include oral and genital ulcers and inflammation of the eyes. The joints, blood vessels, central nervous system, and gastrointestinal tract may also be involved. Attacks may last a week to a month and recur spontaneously. Behcet's syndrome is not a venereal disease. (For more information on this disorder, choose "Behcet" as your search term in the Rare Disease Database).
Bejel, or endemic syphilis, is an infectious disease caused by an organism (treponema pallidum II) related to and identical in appearance to that causing venereal syphilis. This infection causes lesions of the skin and bone and is common among children in the mediterranean countries of the Middle East, northern Africa, parts of eastern Europe, Arabia, subsaharan Africa, and Southeast Asia. In the United States, however, it is rare. Bejel is transmitted by physical, nonsexual contact and the sharing of eating and drinking utensils. (For more information on this disease choose "Bejel" as your search term in the Rare Disease Database.)
Candidiasis (Candida Albicans) is a normally harmless yeast infection found in the mouth, intestinal tract, and vagina. This disorder is an infection caused by a fungus called Candida; most commonly the Candida albicans variety. It is also known as a yeast infection and it usually affects the skin and/or the mucous membranes of the mouth, intestines, or the vagina. Candida infections are rarely serious in otherwise healthy people. In rare cases it may spread through other parts of the body if the patients immune system is not functioning properly. In severe cases it may affect the blood, the membrane lining the heart muscle, or membranes around the brain (meninges). (For more information on this disorder, choose "Candidiasis" as your search term in the Rare Disease Database.)
Chancroid is a sexually transmitted infection caused by the bacillus Hemophilus ducreyi. The incubation period for this disease is two to fourteen days. Chancroid affects the skin and starts as an inflamed patch of skin which eventually becomes a painful ulcer. Lesions are usually single but may be multiple. In males these lesions are usually found on the penis or around the anus. The lesions on females are normally found on the vagina, cervix, vulva, or around the anus. This infection is rare in the United States but common in Africa and Southeast Asia. Chancroid is usually treated with the antibiotic erythromycin.
Congenital Syphilis is a chronic infectious disease caused by a microorganism (treponema pallidum) acquired by the fetus in the uterus or before birth. Symptoms of early Congenital Syphilis include fever, skin problems and low birth weight. In late Congenital Syphilis the symptoms of the disease do not usually become apparent until two to five years of age. In rare cases the disease may remain latent for years with symptoms not being diagnosed until well into adulthood. Symptoms of Congenital Syphilis may include inflammation and hardening of the umbilical chord, rash, fever, low birth weight, high levels of cholesterol at birth, aseptic meningitis, anemia, enlarged liver and spleen, jaundice (yellowish color of the skin), shedding of skin affecting the palms and soles, convulsions, mental retardation, inflammation around the bones, nasal discharge, hair loss, inflammation of the eye's iris, and pneumonia. (For more information on Congenital Syphilis choose "Syphilis, Congenital" as your search term in the Rare Disease Database.)
Herpes Progenitalis is an infection of the genital skin caused by the herpes simplex virus. This infection is spread through sexual contact and lesions may appear within 4 to 7 days after contact. These lesions start out as blisters and may have a watery discharge. Both men and women may experience headaches, muscle aches and tender swollen lymph nodes in the groin. The blisters crust over and heal without treatment. Symptoms may last about 3 weeks. The disorder is contagious for up to two weeks after the lesions appear. The virus may remain latent and then reoccur at any time. There is no cure for this infection but lotions may be used to relieve pain, and the drug Acyclovir may prevent recurrent attacks.
Pinta is an infectious disease caused by the microorganism treponema carateum. It is closely related to the microorganism which causes some other venereal diseases. Pinta is transmitted nonsexually and is characterized by rashes and discoloration of the skin. Small bumps develop and within several months reddish, scaly areas appear most often on the face, hands, and feet. It is common in the hot lowlands of Central and South America, but is rare in the United States. (For more information on this disease choose "Pinta" as your search term in the Rare Disease Database)
Yaws is a nonvenereal infectious disease caused by the microorganism treponema pertenue which is related to syphilis. This disorder is common in children and is characterized by skin and bone lesions. Yaws is rarely found in the United States but is common among children in the humid tropics of Africa, South and Central America, the West Indies, and the Far East. (For more information on this disease choose "Yaws" as your search term in the Rare Disease Database.)
Therapies: Standard
Antibiotics are used to treat Acquired Syphilis. Penicillin is the treatment used most often. In some cases other antibiotics such as tetracycline or erythromycin may be used. Preventative treatment should be given to anyone who has been in sexual contact with an infected person within 90 days. It is very important that the patients history (especially sexual) be taken, and a battery of tests performed, in order to determine the stage of Syphilis affecting the patient.
Therapies: Investigational
This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Acquired Syphilis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
(404) 639-3534
American Social Health Association
100 Capitola Dr., Suite 200
Research Triangle Park, NC 27713
(919) 361-8400
National Sexually Transmitted Diseases Hotline
(800) 227-8922
Council for Sex Information and Education
444 Lincoln Blvd., Suite 107
Venice, CA 90291
NIH/National Institute of Allergy and Infectious Diseases (NIAID)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
For local treatment centers contact any state or local health department listed in your phone directory. These agencies can refer you to testing facilities for venereal diseases.
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1719-24.
CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1713-22.
Clinical Dermatology, 2nd Ed.: Thomas P. Habif, ed; The C.V. Mosby Company., 1990. Pp.222-28.
Congenital Syphilis Presenting in Infants After the Newborn Period: D.H. Dorfman, and J.H. Glaser; N Engl Med; (Nov. 8, 1990, issue 323 (19)). Pp. 1299-302.
Syphilis, Acquired
4pagetitle
842: Syphilis, Acquired
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`,M,Copyright (C) 1991 National Organization for Rare Disorders, Inc.
841: Syphilis, Congenital
_________________________
** IMPORTANT **
It is possible that the main title of the article (Congenital Syphilis is not the name you expected. Please check the SYNONYMS listing to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Lues
Information on the following diseases can be found in the Related Disorders section of this report:
Bejel
Epidermolysis Bullosa
Ectodermal Dysplasias
Jaundice
Pinta
Yaws
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Congenital Syphilis is a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this disease may not show up until several weeks or months after birth and in some cases they may take years to appear. Congenital Syphilis is passed on to the child from the mother who acquired the disease prior to or during pregnancy. The infant is more likely to have congenital syphilis when the mother has been infected during pregnancy although it is not uncommon for an infant to acquire congenital syphilis from a mother that was infected prior to pregnancy. Symptoms of early Congenital Syphilis include fever, skin problems and low birth weight. In Late Congenital Syphilis the symptoms of the disease do not usually become apparent until two to five years of age. In rare cases the disease may remain latent for years with symptoms not being diagnosed until well into adulthood.
Symptoms
Congenital Syphilis is acquired by the fetus when the treponema pallidum spirochete is present in the mother. Pregnant women with syphilis may have a reduction in estrogen while serum progesterone levels may increase. Symptoms of early congenital syphilis usually appear at three to fourteen weeks of age but may appear as late as age five years. Symptoms may include inflammation and hardening of the umbilical chord, rash, fever, low birth weight, high levels of cholesterol at birth, aseptic meningitis, anemia, monocytosis (an increase in the number of monocytes in the circulating blood), enlarged liver and spleen, jaundice (yellowish color of the skin), shedding of skin affecting the palms and soles, convulsions, mental retardation, periostitis (inflammation around the bones causing tender limbs and joints), rhinitis with an infectious nasal discharge, hair loss, inflammation of the eye's iris and pneumonia.
Symptoms of Late Congenital Syphilis usually present themselves after age five and may remain undiagnosed well into adulthood. The characteristics of late congenital syphilis may be bone pain, retinitis pigmentosa (a serious eye disease), Hutchinson's triad which is characterized by peg-shaped upper central incisors (teeth), and interstitial keratitis which consists of blurred vision, abnormal tearing, eye pain and abnormal sensitivity to light, saddle nose, bony prominence of the forehead, high arched palate, short upper jawbone, nerve deafness and fissuring around the mouth and anus.
Causes
Congenital Syphilis is a chronic infectious disease caused by the spirochete treponema pallidum and transmitted by an infected mother to the fetus in the womb. Adults transmit syphilis through sexual contact. (For information on syphilis in adults choose "Syphilis" as your search term in the Rare Disease Database).
Affected Population
The incidence of congenital syphilis in newborns under a year old rose in the United States from 180 cases in 1957 to 422 cases in 1972. More recently there has been a dramatic increase of congenital syphilis especially in urban areas. This rise has been attributed to the use of "crack" cocaine and the increase in prostitution to support drug abuse. In New York City alone, the number of congenital syphilis cases rose from 57 cases in 1986 to 1,000 cases in 1989.
Related Disorders
Symptoms of the following disorders can be similar to those of Congenital Syphilis. Comparisons may be useful for a differential diagnosis:
Bejel, or endemic syphilis, is an infectious disease caused by an organism (treponema pallidum II) related to and identical in appearance to that causing venereal syphilis. This infection causes lesions of the skin and bone and is common among children in the Mediterranean countries of the Middle East, northern Africa, parts of eastern Europe, Arabia, subsaharan Africa, and Southeast Asia. In the United States, however, it is rare. Bejel is transmitted by physical, non-sexual contact and the sharing of eating and drinking utensils. (For more information on this disease choose "Bejel" as your search term in the Rare Disease Database)
Epidermolysis Bullosa is the name of a group of rare, hereditary skin diseases in which blisters (vesicles) develop usually following trauma. Severe forms of the disease may include involvement of the mucous membranes and may leave scars and contractures on healing. The shedding or absence of skin during infancy may be confused with the diagnosis of congenital syphilis. (For more information on Epidermolysis Bullosa choose "Epidermolysis" as your search term in the Rare Disease Database)
Ectodermal Dysplasias are a group of hereditary, non-progressive skin diseases. The skin, it's derivatives, and some other organs are involved. A predisposition to respiratory infections, due to a somewhat depressed immune system, and to defective mucous glands in parts of the respiratory tract, is the most life threatening characteristic of this group of disorders. Symptoms include eczema, poorly functioning sweat glands, sparse or absent hair follicles, abnormal hair, disfigured nails, and difficulties with the nasal passages and ear canals. Skin is satiny smooth, prone to rashes, and slow to heal. Commonly, the teeth fail to develop properly. Other complications may include hearing deficit, loss of sight, mental retardation, limb abnormalities, cleft palate and lip, and urinary tract abnormalities. Allergies are common, as are bronchitis and pneumonia. (For more information on Ectodermal Dysplasias choose "Ectodermal" as your search term in the Rare Disease Database.)
Jaundice is a yellow discoloration of the skin, tissues and certain body fluids caused by excess circulating bilirubin (reddish yellow pigment occuring in the urine, bile, blood and gallbladder). A wide range of liver disorders may cause jaundice. An evaluation based on physical examination, history, and routine laboratory tests will identify the cause of jaundice. Treatment of the underlying disorder is required. (For more information on diseases that cause Jaundice choose "Jaundice" as your search term in the Rare Disease Database).
Pinta is an infectious disease caused by the microorganism treponema carateum and is closely related to the microorganism which causes some venereal disease. This disease is transmitted nonsexually and is characterized by rashes and discoloration of the skin. Small bumps develop and within several months reddish, scaly areas appear most often on the face, hands, and feet. It is common in the hot lowlands of Central and South America, but is rare in the United States. (For more information on this disease choose "Pinta" as your search term in the Rare Disease Database)
Yaws is a nonvenereal infectious disease caused by the microorganism treponema pertenue which is related to syphilis. This disorder is common in children and is characterized by skin and bone lesions. Yaws is rarely found in the United States but is common among children in the humid tropics of Africa, South and Central America, the West Indies, and the Far East. (For more information on this disease choose "Yaws" as your search term in the Rare Disease Database.)
Therapies: Standard
Congenital syphilis is preventable. It occurs in infants who's mothers have not been treated for the disease prior to or during pregnancy. When the infection is very recent the disease may not show up in the infant. Therefore it is important to have the infant tested again later on if the mother has been diagnosed with syphilis.
Serologic tests may be seronegative during pregnancy. Symptoms may then show up when the infant is 3-14 weeks of age. In these cases the mother probably acquired the infection during the later part of her pregnancy. The most effective treatment for syphilis in the mother, as well as congenital syphilis in the infant, is penicillin. In some cases other antibiotics may be used.
Interstitial keratitis may be treated with corticosteroid drugs and atropine drops. An ophthalmologist should be consulted.
If nerve deafness is present a combination of penicillin and corticosteroids may be prescribed.
Therapies: Investigational
This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Congenital Syphilis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
(404) 639-3534
NIH/National Institute of Allergy and Infectious Diseases (NIAID)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
For local treatment centers contact any state or local health department listed in your area phone directory. These agencies can refer you to testing facilities for venereal diseases.
References
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1719.
CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1718-19.
MEDICAL ASPECTS OF DEVELOPMENTAL DISABILITIES IN CHILDREN BIRTH TO THREE;
James A. Blackman, M.D., Editor; The University of Iowa, 1983. Pp. 72.
Clinical Dermatology, 2nd Ed.: Thomas P. Habif, M.D. Ed; The Mosby Company., 1990. Pp. 228-9.
THE EFFECTS OF SYPHILIS ON ENDOCRINE FUNCTION OF THE FETOPLACENTAL UNIT:
C.R. Parker Jr., et al.; Am J Obstet. Gynecol; (Dec. 1988, issue 159 (6)). Pp. 1327-31.
CONGENITAL SYPHILI PRESENTING IN INFANTS AFTER THE NEWBORN PERIOD: D.H.
Dorfman, and J.H. Glaser; N Engl Med; (Nov. 8, 1990, issue 323 (19)). Pp. 1299-302.
CONGENITAL SYPHILI IN THE NEWBORN: V. Chawla, P.B. Pandit, and F.K. Nkrumah; Arch Dis Child; (Nov. 1988, issue 63 (11)). Pp. 1393-4.
UMBILICAL CHORD SCHLEROSI AS AN INDICATOR OF CONGENITAL SYPHILIS: S.
Knowles, and T. Frost; J Clin Pathol; (Nov. 1989)). Pp. 1157-9.
Syphilis, Congenitalc-
f-pagetitle
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04249.TXT
Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
382: Syringobulbia
_________________________
** IMPORTANT **
It is possible the main title of the article (Syringobulbia) is not the name you expected. Please check the SYNONYMS section to find other disorders covered by this article.
Synonyms
Information on the following diseases can be found in the Related Disorders section of this report:
Syringomyelia
Amyloid Neuropathy
Arnold-Chiari Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Syringobulbia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the brain stem. The cavity is a congenital lesion, but for unknown reasons it often expands during adolescence or the young adult years. Syringobulbia usually occurs as a slitlike gap within the lower brainstem that may affect the lower cranial nerves including sensory and motor nerve pathways by disruption or compression.
Symptoms
Syringobulbia may cause dizziness (vertigo), involuntary rapid movement of the eyeball (nystagmus), and loss of feelings of pain and temperature in the face. Atrophy and small local involuntary contractions (fibrillation) of the tongue muscle may also occur, as well as stuttering (dysphonia), and a shrill or harsh voice.
Syringobulbia is a slowly progressive disorder. Porous bones (osteoporosis) may occur in long-standing cases.
Causes
Syringobulbia is most often a congenital disorder of unknown cause. In some cases the disorder may be inherited, but the mode of transmission is unknown.
The disorder may be associated with an excess of a type of nerve cells that constitute the white matter of the brain (astrocytes) in damaged areas of the central nervous system, or the formation of cavities in the brainstem. Frequently, there is an association with an exposed spinal cord (spina bifida), an extra rib arising from a neck vertebra (cervical rib), or asymmetry of the skull.
Affected Population
Syringobulbia can affect persons of either sex. It usually occurs before 30 years of age.
Related Disorders
Syringomyelia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord. The cavity is a congenital lesion, but for unknown reasons it often expands during adolescence or the young adult years. The syrinx is situated near the middle of the spine. It usually begins in the neck (cervical) area, but may extend virtually along its whole length. (For more information on this disorder, choose "Syringomyelia" as your search term in the Rare Disease Database.)
Amyloid Neuropathy is a hereditary disorder in which an abnormal glycoprotein, called amyloid, accumulates in the nervous system in amounts sufficient to impair its function. It often affects the elderly. (For more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database.)
The Arnold-Chiari Syndrome is characterized by a displacement of the brainstem into the spinal cord. Infants with the disorder may exhibit symptoms such as vomiting, mental impairment, and weakness. There may possibly be paralysis of the extremities. The Arnold-Chiari Syndrome usually appears in a milder form in adolescents. Swelling of the optic nerve region (papilledema), nystagmus, ataxia, transient abnormal sensations (paresthesias) and paralysis affecting the eyes or lower cranial nerves may also occur. (For more information on this disorder, choose "Arnold-Chiari" as your search term in the Rare Disease Database.)
Neoplasms and vascular malformations in the brainstem may also cause neurological symptoms similar to those of Syringobulbia.
Therapies: Standard
An accurate diagnosis of Syringobulbia can be arrived at by using myelography, as well as MRI (magnetic resonance imaging). Intraoperative Sonography has been used during surgery to evaluate the effectiveness of the procedure as it is being performed.
Other treatment of Syringobulbia is symptomatic and supportive. Radiation has not proven to be of any benefit in treatment of this disorder.
Therapies: Investigational
Plugging of the obex at the lower end of the fourth ventricle of the brain has been advocated by some for treatment of Syringobulbia, but the effects of this surgical procedure are hard to evaluate, since the natural course of the disorder is variable. Consideration of such radical experimental surgery should be carefully made.
This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Syringobulbia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
Spinal Cord Injury
2201 Argonne Drive
Baltimore, MD 21218
24-Hour Hotline, 1-800-526-3456
In Maryland, 1-800-638-1733
American Spinal Injury Association
250 E. Superior Street, Room 619
Chicago, IL 60611
(312) 649-3425
National Spinal Cord Injury Association
600 W. Cummings Park
Woburn, MA 01801
References
SYRINGOBULBIA AS A CAUSE OF LARYNGEAL STRIDOR IN CHILDHOOD: H. Alcala, et. al.; Neurology (NY) (September 1975: issue 25,9). Pp. 875-878.
INFANTILE HYPOVENTILATION SYNDROME, NEURENTERIC CYST, AND SYRINGOBULBIA:
"b"Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
381: Syringomyelia
_________________________
** IMPORTANT **
It is possible the main title of the article (Syringomyelia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article.
Synonyms
Morvan Disease
Information on the following diseases can be found in the Related Disorders section of this report:
Syringobulbia
Amyloid Neuropathy
Arnold-Chiari Syndrome
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report.
Syringomyelia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord. The cavity is a congenital lesion, but for unknown reasons it often expands during adolescence or the young adult years. The syrinx is situated near the middle of the spine. It usually begins in the neck (cervical) area, but may extend across the spinal cord or virtually along its whole length.
Symptoms
Patients with Syringomyelia in the upper (cervical and thoracic) part of the spinal cord may first notice loss of feeling for pain and temperature in their fingers, hands, arms, and upper chest. In the early stages, a sense of touch is still present. A loss of feeling may spread over the shoulders and back like a cape. Sinking in of the eyeball, a drooping upper eyelid, slight elevation of the lower lid, constriction of the pupil, narrowing of the opening between the eyelids, absence of sweating and flushing of the affected side of the face (Horner syndrome; Bernard-Horner syndrome; Horner's ptosis) may also occur.
Chronic progressive degeneration of the stress-bearing portion of a bone joint is another symptom of Syringomyelia (Charcot joint; neuropathic arthropathy). Reflexes in the upper extremities may be absent.
Morvan disease is a severe form of Syringomyelia accompanied by ulceration of fingers and toes.
When the lumbar and sacral segments of the spine are affected, spasticity, muscle weakness, and muscular incoordination (ataxia) in the lower extremities as well as paralysis of the bladder usually occur.
Syringomyelia is a slowly progressive disorder. Erosion of the bony spinal canal may occur in long-standing cases, as well as increased porosity of the bones (osteoporosis). Joint contractures and progressive curvature of the spine (scoliosis) are other long-term symptoms.
Causes
Syringomyelia is most often a congenital disorder of unknown cause. In some cases the disorder may be inherited through autosomal dominant or recessive genes. However, it can also be caused by spinal cord injuries during any stage of life.
Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.
In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.
In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.)
The disorder is often associated with an excess of a type of nerve cells that constitute the white matter of the brain (astrocytes) in damaged areas of the central nervous system. Frequently, there is an association with an exposed spinal cord (spina bifida), an extra rib arising from a neck vertebra (cervical rib), or asymmetry of the skull. In some cases a tumor in the spinal cord may be found in conjunction with Syringomyelia.
Affected Population
Syringomyelia usually affects persons of either sex before 30 years of age. There are approximately 1,000 cases of this disorder identified in the United States each year.
Related Disorders
Syringobulbia is a similar neurological disorder characterized by a fluid-filled cavity (syrinx) within the brain stem. The cavity is a congenital lesion, but for unknown reasons it often expands during adolescence or the young adult years. Syringobulbia usually occurs as a slitlike gap within the lower brainstem that may affect the lower cranial nerves, sensory or motor nerve pathways by disruption or compression. (For more information on this disorder, choose "Syringobulbia" as your search term in the Rare Disease Database.)
Amyloid Neuropathy is a hereditary disorder in which the abnormal glycoprotein "amyloid" accumulates in the nervous system and impairs its function. It often affects the elderly. (For more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database.)
Arnold-Chiari Syndrome is characterized by a displacement of the brainstem into the spinal cord. Infants with the disorder may exhibit symptoms such as vomiting, mental impairment, and weakness. The extremities may be paralyzed. Arnold-Chiari Syndrome usually appears in a milder form in adolescents. Swelling of the optic nerve region (papilledema), nystagmus, ataxia, transient abnormal sensations (paresthesias) and paralysis affecting the eyes or lower cranial nerves may also occur. (For more information on this disorder, choose "Arnold-Chiari Syndrome" as your search term in the Rare Disease Database.)
Neoplasms and vascular malformations in the spinal cord may also cause neurological symptoms similar to those of Syringomyelia.
Therapies: Standard
An accurate diagnosis of Syringomyelia and the location of the syrinx can be arrived at by using imaging techniques such as delayed CT metrizamide myelography, or MRI (magnetic resonance imaging). Intraoperative Sonography (IOS) has been used during surgery to evaluate the effectiveness of the procedure as it is being performed.
Treatment of Syringomyelia consists of connecting the fluid-filled cavity (syrinx) in the spinal cord with the abdominal cavity (syringo-peritoneal shunting) to drain the fluid. This procedure has been effective in reversing or arresting neurological deterioration in some patients. Radiation has not proven to be of any benefit in treatment of this disorder.
Therapies: Investigational
Cutting of the spinal cord and its central canal at the lower end (filum terminale) and decompression of the spinal cord have been advocated by some for treatment of Syringomyelia. However, the effects of these surgical procedures are hard to evaluate, since the natural course of the disorder is variable. Consideration of such radical experimental surgery should be carefully made.
This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Resources
For more information on Syringomyelia, please contact:
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