What is Tay-Sachs disease

Tay-Sachs disease is a rare genetic disorder that primarily affects the nervous system. It is inherited in an autosomal recessive manner, meaning that both parents must carry a specific gene mutation for their child to develop the disease.

The condition is characterized by the accumulation of a fatty substance called GM2 ganglioside in the nerve cells of the brain and spinal cord. This buildup progressively damages the cells, leading to a decline in neurological function.

Infants with Tay-Sachs disease typically appear normal at birth, but symptoms start to manifest around 3 to 6 months of age. These symptoms may include developmental regression, loss of motor skills, muscle weakness, and an exaggerated startle response. As the disease progresses, children may experience seizures, vision and hearing loss, difficulty swallowing, and an increased susceptibility to infections.

Unfortunately, there is currently no cure for Tay-Sachs disease. Treatment focuses on managing symptoms and providing supportive care to improve the quality of life for affected individuals. Genetic counseling and carrier screening are essential for families with a history of the disease to understand the risks and make informed decisions.