CPN | Tay-Sachs

Tay-Sachs

Tay-Sachs is a hereditary metabolic disorder caused by the absence of the enzyme HexA, which causes cells to become damaged and results in progressive neurologic deterioration. There are three forms, determined by the age of the child when symptoms first appear: Infantile typically presents between 6 and12 months, Juvenile between 2 and4 years old, and Late Onset in late adolescence (but can begin later). 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. There is currently no effective medical treatment for Tay-Sachs. Symptom management and supportive treatment often focus on nutrition, hydration and respiratory care. Children with Tay-Sachs have a significantly shortened life expectancy.

For more information, visit the National Tay-Sachs and Allied Diseases Association website