Tay-Sachs disease (TSD) is a deathly genetic disorder, most commonly affecting children. Tay-Sachs results in the destruction of the nervous system. It is caused by the absence of an important enzyme called hexosaminidase-A (Hex-A).
Without this enzyme, a fatty lipid or a fatty substance called GM2 ganglioside accumulates in cells, especially in the brain of a person that is affected. This accumulation in the brain cells causes progressive damage to the brain and the entire body.
The destructive process of the Tay-Sachs disease begins early in pregnancy, and it can be discovered in a fetus. However, a child with Tay-Sachs appears normal until they’re about six months old when the child’s development slows down. By the time a child is two years old, they’ll probably experience recurrent seizures and their mental function will start to diminish. The child is eventually unable to turn over, crawl, sit, or walk, becomes blind and non-responsive.
The death usually results by the time the child is five years old because the nervous system is so affected that there’s nothing to do anymore.