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Definition  

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:

  • Infantile-onset
  • Juvenile-onset
  • Adult-onset

Given the best of care, all children with the infantile form die by the age of five.

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Genetic Material  
Chromosome_DNA

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Causes  

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.

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Risk Factors  

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