Symptoms of Tay-Sachs Disease
A rare metabolic disorder with severe neurologic symptoms, the Tay-Sachs disease can be a fatal one. This disease of destructive nerve cells is due to the lack of Hex-A, an enzyme that is necessary for the breakdown of lipids. Without Hex-A, the lipids will continuously build up, causing the nerve cells in the brain to be destroyed. Consequently, the nervous system will not be able to function properly.
The classic type of Tay-Sachs disease occurs before birth, where nerve cells destruction would have begun. However, nerve function will only be lost when a baby is around six months old, and by age two, they may have seizures, and lose the ability to crawl, sit, turn over, and reach for objects. They can later become blind, paralyzed, and mentally retarded. Those with this classic condition do not live past the age of five; otherwise, the Tay-Sachs disease symptoms can develop around age 2 to five, but they would not live past the age of 15.
There are also those with a late onset, where it affects teenagers of adults around their twenties and thirties, where they would gradually lose nerve function. Unlike the infantile form of the diseases where there is complete lack of Hex-A, those with late onset have low levels of Hex-A. Some of the Tay-Sachs disease symptoms they may experience are like muscle weakness, twitching, slurred speech, and intellectual impairment, which would make them clumsy, uncoordinated and moody. Since people can vary in their levels of Hex-A, and their disease take time to develop, their life expectancy varies as well.
Despite efforts by scientists to discover a cure or prevention for the disease, there is currently no existing treatment. There are, however, ways to test if a person carries that defective gene, where the levels of Hex-A would be determined through blood tests, or DNA tests for mutated genes. Prenatal tests are also available to find for the presence of Hex-A in fetus.