Tay-Sachs Disease

Tay-Sachs disease is an autosomal recessive lysosomal storage disorder caused by mutations in the HEXA gene, resulting in complete or near-complete deficiency of hexosaminidase A enzyme. Without adequate enzyme activity, GM2 gangliosides accumulate progressively within neurons and other cells, particularly affecting the central nervous system. The classical infantile form presents around 3-6 months of age with developmental regression, loss of previously acquired skills, hypotonia, and developmental delay. By age one year, children typically develop seizures and progressive neurological decline including blindness, deafness, and loss of motor and cognitive function. A characteristic cherry-red spot may be visible on the optic nerve head during eye examination. Without intervention, death typically occurs by age 3-5 years. Although no cure currently exists, supportive care including seizure management, nutritional support, and palliative care improve quality of life. Carrier screening, particularly in high-risk populations, is critical for reproductive planning.