Tay-Sachs disease (TSD) is a genetic disorder. It occurs when a fatty substance builds up in the brain. This causes progressive destruction of the brain. There are three forms:
Given the best of care, all children with the infantile form die by the age of five.
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TSD is caused by the absence of an enzyme. This enzyme is needed to break down a fatty substance called ganglioside (GM2). As a result, GM2 builds up. The build up in the brain causes damage.
TSD occurs when both parents pass on the faulty genes. A person can have just one copy of the faulty gene. In this case, there are no symptoms. The person is called a carrier.
Factors that increase your chance for TSD include:
- Having parents who are carriers of the TSD gene
- Race: Eastern European (Ashkenazi) Jewish descent
- TSD is also frequently found in French Canadian and Cajun populations