ay Sachs disease - the facts
What is Tay Sachs disease?
Tay Sachs Disease (TSD) is an incurable inherited genetic disorder of the central nervous system. Symptoms usually appear before six months, when babies lose the ability to smile. Blindness, paralysis and seizures follow, and the child usually dies before their fifth birthday.
Babies affected by TSD lack an enzyme called HexA. HexA is responsible for breaking down certain fatty substances in brain and nerve cells. Without HexA, these substances gradually accumulate, eventually resulting in loss of cells in the brain.
Despite there being much research being done around the world, unfortunately there is currently no treatment that is known to change the tragic outcome of TSD.
Who does Tay Sachs disease affect?
Every ethnic group has a predisposition to certain genetic disorders. For example, thalassaemia is more common among those from Mediterranean countries and sickle cell disease is more common among Africans. While TSD can affect anyone, individuals with Ashkenazi Jewish ancestry are much more likely to have a faulty TSD gene.
One in 25 Ashkenazi Jews have a faulty gene for TSD.
One in 300 in the general population have a faulty gene for TSD.
One in 3000 Ashkenazi Jewish babies born will die from TSD
One in 360,000 babies born in the general community will die from TSD
Affected babies are 100 times more likely to be of Ashkenazi Jewish decent.
The most common form of TSD is the classic form that affects infants. However, there are other rarer forms. These other forms are less severe, and may occur later in life, than classical infantile TSD.