Tay Sachs Disease

What is Tay-Sachs disease?

Tay-Sachs disease is an inherited disease. Babies with this disease are born without an enzyme called Hexosaminidase A, or Hex A. This causes fatty proteins to build up and damage the baby's ability to see, hear, move, and develop.

What causes Tay-Sachs disease?

A baby can only have Tay-Sachs disease if both parents carry the gene that causes the disease. This gene is most common among certain ethnic groups, such as Ashkenazi Jews, French-Canadians, and Cajuns.

Couples in the ethnic groups at risk for the disease can get screened for the Tay-Sachs gene with a simple blood test. Pregnant mothers can have their unborn babies screened for a lack of the enzyme that causes the disease. This can be done with chorionic villus sampling, or CVS, in which a small sample of the placenta is drawn into a needle or a small tube for analysis. A pregnant woman can also have amniocentesis, in which a needle is inserted into the mother's belly to draw a sample of amniotic fluid.

What are the symptoms?

A baby born with Tay-Sachs develops normally for the first 3 to 6 months. After the first few months, the baby starts to lose the ability to see, hear, and move. The child will stop smiling, crawling, turning over, and reaching out for things. An eye exam can be done to check for a cherry-red spot at the back of the child's eye. By the age of 2, the child may have seizures and become blind, deaf, and paralyzed. Death usually occurs by the time the child is 5 years old.

How is it treated?

There is no cure for Tay-Sachs disease. Medical care can help to relieve pain, manage seizures, and control other symptoms.