Tay-Sachs disease (or GM2 gangliosidosis) is a genetic disorder: a rare autosomal recessive disorder that results in the accumulation of ganglioside material in neural tissue, leading to progressive mental and physical disability and death. The disorder results in the destruction of nerve cells in the brain and spinal cord.
The common infantile form starts at the age of six months and leads to death before the age of four, with the baby losing the ability to turn over, sit, or crawl - this is then followed by seizures, hearing loss, and inability to move. A less common juvenile form starts between the ages of 2 and 10 and is similarly fatal. A rare late-onset form may not be fatal but is associated with severe disability.
The treatment is supportive in nature. This may involve multiple specialities as well as psychosocial support for the family.
The disease is named after English ophthalmologist, Waren Tay, who described the pathognomonic red spot (‘cherry-red macula’) in 1881, and American neurologist Bernard Sachs who described the cellular changes in 1887. Both recognized the familial nature of the condition in Jewish families. Sachs proposed the condition be called amaurotic familial idiocy.