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.
A late-onset form of hexosaminidase A deficiency occurs in adolescents and adults of Ashkenazi Jewish ancestry. This disorder, called chronic (or adult) GM2-gangliosidosis, or late-onset Tay-Sachs disease (LOTS), has been detected in over 30 individuals from Ashkenazi Jewish families residing in both the United States and Israel. Onset of the disease occurs during childhood or adolescence and is characterized by poor coordination, tremor, and/or slurred speech.
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.