Tay-Sachs Disease

Tay-Sachs disease is a genetic disorder caused by mutations in the HEXA gene that result in a buildup of gangliosides in neurons. It is typically fatal in children by age 5. There are three main types - infantile Tay-Sachs disease, which appears before 6 months and results in death by age 3-4; juvenile Tay-Sachs disease, which occurs between ages 2-10 and results in death by ages 5-15; and adult Tay-Sachs disease, which is very rare and non-fatal but causes progressive neurological symptoms. Prevention relies on genetic screening and counseling for at-risk populations.