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NINDS Tay-Sachs Disease Information Page




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What is Tay-Sachs Disease?

Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body.  It is part of a group of genetic disorders called the GM2 gangliosidoses.  Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A.  Affected children appear to develop normally until about age 6 months.  Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing.  Seizures may begin in the child's second year. Persons with Tay-Sachs also have "cherry-red" spots in their eyes.  A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.  A very severe form of Tay-Sachs disease is know as Sandhoff disease, which is not limited to any ethnic group.

Is there any treatment?

Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.

What is the prognosis?

Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.

What research is being done?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.  The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. the NINDS and other NIH Institutes supports the Lysosomal Diseases Netowrk, which addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.  Additional research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches.  NINDS-funded research on the gangliosidoses includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression.  Other research is expanding the use of virus-delivered gene therapy seen in an animall model of Tay-Sachs disease for use in humans.

NIH Patient Recruitment for Tay-Sachs Disease Clinical Trials

Organizations

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National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
info@ntsad.org
http://www.ntsad.org
Tel: 800-90-NTSAD (906-8723)
Fax: 617-277-0134

Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC 20008-2369
info@geneticalliance.org
http://www.geneticalliance.org
Tel: 202-966-5557; 800-336-GENE (4363)
Fax: 202-966-8553

March of Dimes
1275 Mamaroneck Avenue
White Plains, NY 10605
askus@marchofdimes.com
http://www.marchofdimes.com
Tel: 914-997-4488; 888-MODIMES (663-4637)
Fax: 914-428-8203

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT 06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100; Voice Mail: 800-999-NORD (6673)
Fax: 203-798-2291



Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last Modified February 22, 2016