Tay-Sachs is caused by the absence of beta-hexosaminidase. Cells become
damaged leading to neurological disorders.
Tay-Sachs is a genetic disorder caused by the absence of a vital
enzyme known as Hex-A. 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.
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 -Symptoms appear around 6 months of age
Juvenile -Symptoms typically appear between ages 2 and 5, but can occur anytime during childhood
Late Onset -Symptoms typically appear in adolescence or early adulthood, but can appear later
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.
Causes – the missing Hex-A enzyme
Research - exciting ongoing research
History - named for Warren Tay and Bernard Sachs
