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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

Tay-Sachs Disease

Tay-Sachs is a genetic disorder caused by the absence of beta-hexosaminidase (HexA). This missing enzyme causes cells to become damaged, resulting in progressive neurological disorders. A cure for Tay-Sachs does not yet exist but there are many strategies for managing life with Tay-Sachs.

There are 3 forms of Tay-Sachs:

The form is determined by the age of the individual when symptoms first appear. Only one form of Tay-Sachs occurs in a family. If a child has Infantile, older siblings are not at risk to develop Juvenile or Late Onset Tay-Sachs later in life.

 Classic Infantile Tay-Sachs -Symptoms appear around 6 months of age.

 Juvenile Tay-Sachs -Symptoms typically appear between ages 2 and 5, but can occur anytime during childhood.

 Late Onset Tay-Sachs -Symptoms typically appear in adolescence or early adulthood, but can appear later.

Who is at risk?

Anyone can be a carrier of Tay-Sachs. When both parents are carriers, each child has a 25% of having the disease. The carrier rate for the general population is 1/250. Some evidence suggests people of Irish / British Isle descent have an increased risk over the general population between 1/50 to 1/150. French Canadians, Louisiana Cajuns and Ashkenazi Jews are all considered high risk with a carrier rate of 1/27.

Talk to your doctor about Genetic Counseling to discuss your options before starting your family.

Explore More:

 Causes - the missing HexA enzyme

Research - ongoing research

 History of Tay-Sachs Disease - named for Warren Tay and Bernard Sachs

Infantile & Juvenile Family Support

Late Onset Support