Tay-Sachs disease is a rare, inherited metabolic disorder that mostly affects young children and involves progressive damage to and death of cells, particularly in the brain and spinal cord. It is caused by a mutation in the enzyme hexosaminidase A, which allows the harmful buildup of lipids (fatty materials such as oils and acids) in cells. Both parents must carry the mutated gene in order to have a child with Tay-Sachs disease. Tay-Sachs disease is part of a group of genetic disorders called the GM2 gangliosidoses.

There are three forms of Tay-Sachs disease: infantile, juvenile, and late-onset/adult. The most common and severe form is the infantile form, which typically begins showing signs and symptoms by about 3 to 6 months of age. Infants with this disorder typically develop normally until this time, but then their development slows and muscles used for movement weaken. Affected infants stop achieving normal developmental milestones and begin to lose previously acquired skills such as turning over, sitting, and crawling. Over time, this leads to seizures, vision and hearing loss, paralysis, and other major issues. Children with this form of Tay-Sachs disease typically live only a few years.

Less commonly, some children have the juvenile form of Tay-Sachs disease and may live into their teen years. Rarely, some adults have a late-onset form of Tay-Sachs disease which is often less severe than forms that begin in childhood.

There is no cure for Tay-Sachs disease, and presently, there is no specific treatment for it. Sometimes, doctors prescribe medicines to relieve pain and manage seizures. Researchers are studying ways to improve treatment for Tay-Sachs disease. If you have a family history of Tay-Sachs disease or if youre a member of a high-risk group and plan to have children, health care providers strongly recommend genetic testing and genetic counseling.