Understanding Tay-Sachs Disease: Symptoms, Causes & Impact

Tay-Sachs disease is a fatal genetic disorder that affects the nervous system. It is caused by a mutation in the HEXA gene, which leads to a deficiency of the enzyme hexosaminidase A. This enzyme is responsible for breaking down a fatty substance called GM2 ganglioside, which is found in the membranes of nerve cells. When GM2 ganglioside builds up, it damages nerve cells and causes them to die.

Tay-Sachs disease typically presents in infancy. Affected babies may appear normal at birth, but they gradually develop a number of symptoms, including:

* Loss of muscle tone

* Seizures

* Difficulty swallowing

* Vision problems

* Cherry-red spot in the eye

* Mental retardation

Tay-Sachs disease is incurable and eventually leads to death. Most affected children die before the age of 5.

There is a carrier screening test available for Tay-Sachs disease. This test can identify individuals who carry the mutated HEXA gene. Individuals who are found to be carriers can make informed decisions about having children.