Tay-Sachs Disease is a progressive and fatal genetic condition that involves a complete deficiency of the hexosaminidase-A (HEXA) enzyme. This enzyme is needed in healthy individuals for the process of hydrolysis of GM2 ganglioside to occur. For individuals with Tay-Sachs disease that lack this enzyme, the fatty substance of GM2 ganglioside accumulates in the brain and leads to the symptoms of the disease.
Couples who are both carriers of the same disease will want to explore their many options for a healthy family. It is best to consult a genetic counselor who can explain the various choices open to you when planning a family. Prenatal diagnosis early in pregnancy will reveal if the fetus has Tay-Sachs or Canavan disease. At-risk couples can choose from two procedures: amniocentesis, done around the 16th week of pregnancy, and chorionic villus sampling (CVS), performed between the 10th and 13th weeks.
There's currently no cure for Tay-Sachs disease, so the aim of treatment is to make living with the condition as comfortable as possible. Treatment usually focuses on the Preventing problems with the lungs and airways, relieving any feeding or swallowing problems (dysphagia) and using medication to help control or relieve symptoms, such as fits and muscle stiffness.