Tay-Sachs Disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain.
The condition is caused by insufficient activity of an enzyme called beta-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.
Tay Sachs Disease Symptoms
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. Other neurological symptoms include dementia, seizures, and an increased startle reflex to noise. A much rarer form of the disorder occurs in patients in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration.
Persons with Tay-Sachs also have cherry-red spots in their eyes.
Who is at Risk For Developing Tay Sachs?
The incidence of Tay-Sachs is particularly high among people of Eastern European and Askhenazi Jewish descent.
Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures beta-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.
Treatment of Tay Sachs Disease
Presently there is no 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.
Where Can I Get More Information?
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Brighton, MA 02135
Phone 617-277-4463 or 800-90-NTSAD (906-8723)
E-mail [email protected]
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
Phone 800-999-NORD (6673) or 203-744-0100 (Voice Mail)
E-mail [email protected]
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892