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.
Among Jews of Sephardic origin and in the general, non-Jewish population, the carrier rate is about one in 250. There are certain exceptions. French-Canadian and the Cajun community of Louisiana have the same carrier rate as Ashkenazi Jews, one in 27. Also, individuals with ancestry from Ireland are at increased risk for the Tay-Sachs gene. Current research indicates that among Irish Americans, the carrier rate is about one in 50.
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.