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
info@geneticalliance.org
http://www.geneticalliance.org/
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
mpf@bellatlantic.net
http://www.lotsf.org/
Tel:
215-836-9426 800-672-2022
Fax: 215-836-5438
March of Dimes Birth Defects Foundation
1275 Mamaroneck
Avenue
White Plains, NY 10605
resourcecenter@modimes.org
http://www.modimes.org/
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
http://www.nfjgd.org/
Tel:
212-371-1030
National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
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
NTSAD-boston@worldnet.att.net
http://www.ntsad.org/
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
NICHDClearinghouse@mail.nih.gov
http://www.nichd.nih.gov/
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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