Tay Sachs disease (TSD) is a rare type of genetic mutation that destroys the nervous system. Symptoms of the disease usually begin in infancy and result in the death of the child by age 5. The mutated gene causes the lack, or reduced production, of the enzyme hexosaminidase A (HEXA), which processes certain fats. Without HEXA, these fats build up, damaging cells in the central nervous system.

There are three different forms of TSD: infantile, juvenile and late-onset. The infantile form is the most common, and children with the condition do not produce any HEXA. The juvenile form is also fatal to the child with death usually occurring by age 15. The late-onset form results in a much slower deterioration of the central nervous system, and patients may live past age 60 because they produce small amounts of HEXA. People may also be carriers of the genetic mutation. Carriers do not have the symptoms but do have the ability to pass the gene to biological children.

Tay Sachs disease, while rare, most commonly occurs in people of eastern European descent, particularly eastern European (Ashkenazi) Jewish populations. It is also more common among certain Louisiana Cajun and French-Canadian populations. However, people of either gender from any ethnic background may have the genetic mutation that causes TSD.

Common signs and symptoms of TSD include red spots in the retina of the eye, an increased startle reflex in infants, seizures, deafness, blindness and paralysis. There is no cure for TSD. Treatments involve making the patient more comfortable. The late-onset form may be treated with a variety of medications to control a patient’s specific symptoms.