What Is It?
Tay-Sachs disease is an inherited disease caused by an abnormal gene. People with this abnormal gene do not have an important enzyme called hexosaminidase A (HEXA) that helps to break down a fatty material called ganglioside GM2. This material builds up in the brain, and eventually damages nerve cells and causes neurological problems.
Infants usually begin to show signs of the disease between 3 months and 6 months of age. Children with Tay-Sachs disease can become deaf, blind and paralyzed, and usually die by the age of 5.
Tay-Sachs disease is an autosomal recessive inherited disorder, meaning a child inherits one copy of the abnormal gene from each parent. The parents do not actually have the disease, but carry the Tay-Sachs gene and pass it on to the baby. If both parents have the abnormal Tay-Sachs gene, there is a one-in-four chance that their child will inherit the gene from both of them and have Tay-Sachs disease.