Tay-Sachs disease

Tay-Sachs disease is a rare, inherited metabolic disease that mostly affects young children and involves progressive damage to and death of cells, particularly in the brain. It is caused by a mutation in the enzyme hexosaminidase A, which allows the harmful buildup of lipids (fatty materials such as oils and acids) in cells. Both parents must carry the mutated gene in order to have a child with Tay-Sachs disease. Tay-Sachs disease is part of a group of genetic disorders called the GM₂gangliosidoses.

Affected children appear to develop without a problem until about 6 months of age and then begin to show neurological symptoms, including:

Slowing of development
Progressive loss of mental ability
Dementia
Blindness
Increased startle reflex to noise
Progressive loss of hearing leading to deafness
Swallowing difficulty
Seizures that may begin in the child's second year
Cherry-red spots in their eyes

A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their 20s and early 30s and is characterized by an unsteady gait (manner of walking) and progressive neurological deterioration.

The incidence of Tay-Sachs disease has been particularly high among people of Eastern European and Ashkenazi 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. A very severe form of Tay-Sachs disease, known as Sandhoff disease, is not limited to any ethnic group.

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.

How can I or a loved one help improve care for people with Tay-Sachs disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about Tay-Sachs disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Tay-Sachs disease at Clinicaltrials.gov.

Where can I find more information about Tay-Sachs disease?

Information may be available from the following resources:

Genetics and Rare Diseases (GARD) Information Center

Hide and Seek Foundation for Lysosomal Storage Disease Research
Phone: 877-621-1122

MedlinePlus

National Tay-Sachs and Allied Diseases Association
Phone: 800-906-8723

Content source: https://www.ninds.nih.gov/health-information/disorders/tay-sachs-disease Accessed June 29, 2023.

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