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Articles » NINDS Tay-Sachs Disease Information Page: NINDS

NINDS Tay-Sachs Disease Information Page: NINDS

Article title: NINDS Tay-Sachs Disease Information Page: NINDS

Main condition: Tay-Sachs Disease

Conditions: Tay-Sachs Disease

What is Tay-Sachs Disease?
Tay-Sachs disease is a fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. A much rarer form of the disorder which occurs in patients in their twenties and early thirties is characterized by unsteadiness of gait and progressive neurological deterioration. Patients with Tay-Sachs have a "cherry-red" spot in the back of their eyes. The condition is caused by insufficient activity of an enzyme called hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures hexosaminidase A activity. Both parents must be carriers in order to have an affected child. When both parents are found to carry a genetic mutation in hexosaminidase A, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal monitoring of pregnancies is available if desired.

Is there any treatment?
Presently there is no treatment for Tay-Sachs.

What is the prognosis?
Even with the best of care, children with Tay-Sachs disease usually die by age 5.

What research is being done?
NINDS supports research to find ways to treat and prevent inherited disorders such as Tay-Sachs disease. NINDS investigators are currently conducting studies to deliver the corrective enzyme and the normal gene to the brain of patients with Tay-Sachs disease.


Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC 20008-2304
Tel: 202-966-5557 800 336-GENE  (4363)
Fax: 202-966-8553

Late Onset Tay-Sachs Foundation
1303 Paper Mill Road
Erdenheim, PA 19038-7025
Tel: 215-836-9426 800-672-2022
Fax: 215-836-5438

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203

National Foundation for Jewish Genetic Diseases
250 Park Avenue
c/o Suite 1000
New York, NY 10177
Tel: 212-371-1030

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
Tel: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD 20892-2425
Tel: 301-496-5133 800-370-2943

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892


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