Tay-Sachs disease (TSD) is a rare, autosomally inherited, lysosomal storage disorder, characterized by neuronal and cerebellar degeneration, and progressive atrophy of the brain. The severe infantile form is charectreized by developmental delays, hypotonia, seizures, blindness, deafness, and paralysis.
TSD is a GM2 gangliosidosis, a disorder in which a lipid called GM2 ganglioside accumulates in neuronal cells. Mutations in the HEXA gene result in TSD, whereas mutations in the HEXB gene result in its near-twin, Sandhoff Disease.