Tay Sachs disease is an inherited condition that causes brain and other nerve cells to die, resulting in the gradual loss of movement and mental function.
Symptoms include seizures, vision and hearing loss, mental disabilities, and paralysis. Tay Sachs disease is typically fatal in early childhood.
This condition is caused by pathogenic (disease-causing) variants in the HEXA gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 27 chance to be a carrier. Carriers typically do not experience any symptoms.
Other names for this condition are hexosaminidase A deficiency and HEXA deficiency.