What is Tay-Sachs Disease?
Tay-Sachs disease is a rare, inherited genetic disorder caused by mutations in the HEXA gene, which leads to a deficiency of the enzyme hexosaminidase A. Without this enzyme, harmful fatty substances (GM2 gangliosides) accumulate in the nerve cells of the brain and spinal cord, leading to progressive neurological damage. It is inherited in an autosomal recessive pattern, meaning both parents must carry and pass on the defective gene for a child to be affected.
Key Features
- Progressive and fatal neurological condition
- Most common in infants of Ashkenazi Jewish, French-Canadian, and Cajun descent, but can occur in any ethnicity
- No cure — treatment focuses on supportive care
Common Symptoms
- Normal development for the first few months, followed by loss of skills
- Muscle weakness and decreased motor skills
- Increased startle response to sounds
- Vision and hearing loss
- Seizures
- Paralysis in later stages
How to Reduce the Risk
Genetic counseling to understand inheritance risks and reproductive options
Carrier screening before conception, especially in high-risk populations
Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) during IVF to select embryos without the HEXA mutation
Prenatal genetic testing for early detection during pregnancy