Tay-Sachs Disease

Tay-Sachs disease is a progressive, lethal neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase-A that results in the accumulation of GM2 gangliosides. GM2 gangliosidoses comprise 3 different diseases: Tay-Sachs disease, Sandhoff disease, and the AB variant. GM2 gangliosidoses manifest mainly with central nervous system dysfunction. Sandhoff disease is different from the other 2 gangliosidoses with its systemic involvement, including hepatosplenomegaly, cardiomegaly, macroglossia, and skeletal abnormalities.

The disease is classified into infantile, juvenile, and adult forms based on the age at presentation. Early diagnosis of Tay-Sachs is clinically challenging because of subtle clinical features and nonspecific biochemical findings. Accurate diagnosis is essential for proper management and reducing complications associated with the disease.