Video - Tay-Sachs disease (NORD)

Tay-Sachs disease (TSD) is a rare and fatal genetic disorder that primarily affects the nervous system. It is a lysosomal storage disorder caused by a mutation in a gene on chromosome 15, which codes for a lysosomal enzyme called beta-hexosaminidase A (HEX-A). HEX-A normally breaks down a lipid called GM2 ganglioside found in neurons. Without HEX-A, GM2 ganglioside accumulates inside neurons' lysosomes, resulting in symptoms like seizures, motor delay, low muscle tone, and rapid degeneration of the nervous system.

Diagnosis involves determining the activity of HEX A in serum. Genetic testing for HEX A gene mutations and sequencing of the HEX A gene are used for diagnosis and heterozygous carrier detection. There is currently no cure for Tay-Sachs disease, and treatment options are limited. Supportive care, such as physical therapy, feeding assistance, and seizure control, can help to manage symptoms and improve quality of life.