GM2 Gangliosidosis

GM2 gangliosidosis, including Tay-Sachs and Sandhoff disease, is a group of autosomal recessive lysosomal storage disorders caused by deficiency of beta-hexosaminidase A and/or B, leading to GM2 ganglioside accumulation. Clinical manifestations include hypotonia, developmental regression, seizures, and neurodegeneration. Pathophysiology involves lysosomal dysfunction and neuronal apoptosis. Diagnosis is confirmed by enzyme assays and genetic testing. Management is supportive, with prognosis poor for infantile forms due to progressive neurological decline.