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 few Indian studies have partly addressed the incidence of LSDs in India along with mutation detection for Tay-Sachs disease and metachromatic leukodystrophy (MLD). Considering the large population and a high frequency of consanguineous marriages, the incidence of LSDs is likely to be higher in India. Hence, this study has been planned to know the burden of LSDs in high-risk group of children and identify common mutation for Tay-Sachs disease in the country.
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.