Tay-Sachs Disease

Thursday, March 31, 2011

Tay-Sachs disease is a rare and fatal genetic disorder in children that causes progressive destruction of the central nervous system. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. Dr. Edward Hill discusses Tay-Sachs disease in todays 60 Second Housecall.

Dr. Hill:

Tay-Sachs disease is a rare disorder in which little or no hexos-aminidase A, or hex A, is produced by the body. Hex A is necessary to break down normal fatty compounds called gangliosides in the body cells. When these fatty compounds are not broken down, they gradually accumulate and damage brain and nerve cells.

Each year, about 16 cases of Tay-Sachs are diagnosed in the United States. A baby born with Tay-Sachs develops normally in the first 3 to 6 months of life. The baby will then progressively lose the ability to see, hear and move. Death usually occurs by the time the child is 5 years old.

Tay-Sachs is an inherited disease among certain ethnic groups, including Ashkenazi Jews and Cajuns in Louisiana. There is no treatment, so at-risk ethnic groups need genetic testing to see if they are a carrier before they consider having children. If both parents carry the gene for Tay-Sachs, there is a specific risk their children will have the disease.

For North Mississippi Medical Center, Im Dr. Edward Hill.