Tay-Sachs Disease is a rare and usually fatal genetic disorder caused by the absence of-hexosaminidase (HexA). This missing enzyme causes progressive neurological deterioration. Symptoms can include muscles weakness, twitching or jerking of muscles, lack of motor skills, and inability to make eye contact. Children with the most agressive form of Tay-Sachs Disease usually die by 3 to 5 years of age. A definitive treatment for Tay-Sachs Disease does not yet exist.
There are 3 forms of Tay-Sachs Diseases determined by the age when symptoms first appear:
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.