Tay-Sachs Disease
Tay-Sachs Disease is a rare genetic disorder caused by a deficiency of the enzyme hexosaminidase A. This enzyme is essential for breaking down a fatty substance called GM2 ganglioside in the brain and nerve cells. Without this enzyme, GM2 accumulates, leading to progressive damage to the nervous system. Symptoms typically appear in infants around six months of age and may include loss of motor skills, vision and hearing loss, and seizures.
The disease is most common in individuals of Ashkenazi Jewish descent, with a carrier rate of about 1 in 27. There is currently no cure for Tay-Sachs, and treatment focuses on managing symptoms and providing supportive care. Genetic counseling is recommended for families with a history of the disease.