Tay-Sachs disease is an especially heart breaking part of life. This disease is most often found in infants and results in their mental and physical capacities to be continuously broken down and eventually leads to death by age four. Generally, the first symptoms of Tay-Sachs will be noticed around six months of age and can be diagnosed by the red dot that is visible on the retina. It is also named after the ophthalmologist, Warren Tay that first noticed the red dot and the neurologist that first studied the degradation of the cells, Bernard Sachs.
Unfortunately, there is no cure or treatment available for this genetic disorder. However, the source of the problem has been located to the Hex-A gene. The mutation of the Hex-A gene must be inherited from both the mother and the father in order for Tay-Sachs to pose a threat. It is located on the fifteenth chromosome and the mutation is notable in the Cajun populations of Louisiana as well as French-Canadians in Southern Quebec and the Ashkenazi Jews of Eastern Europe.
Tay-Sachs, though exceedingly rare, is caused when there is an excess amount of gangliosides on the nerve cells in the brain. This then causes those cells to die off much more rapidly than they would have under normal circumstances. Symptoms of Infantile Tay-Sachs Disease (TSD) are normal development for the first six months and then blindness, deafness, atrophy and eventually paralysis and death. Juvenile TSD is characterized in much the same way with unsteadiness, difficulty swallowing and other cognitive and motor function loss with most patients dying between five and fifteen years, but is also much more rare. The rarest form of TSD is Late Onset TSD, or LOTS, is also the safest. In adults there are more psychiatric issues to be concerned with and the motor skill loss, but it isn’t generally fatal.