Tay-Sachs disease, or TSD is a disease in which the gene that makes the enzyme hexosaminidase A, or HEX A, has been mutated.  HEX A is a vital enzyme that breaks down excess lipids in the brain and spinal cord.  A person with TSD, who thus lacks HEX A, eventually has so many lipids built up in the nervous tissue that the tissue cannot function properly, causing loss of hearing, movement, and sight.  Death eventually follows.

 

How Does Someone Get TSD?

Tay-Sachs disease is originated in a mutation on the 15^th chromosome.  The mutation became a recessive trait, so a person can only inherit Tay-Sachs if both parents were carriers of the gene.

 

What Does TSD Look Like?

For the first few months of life, a baby with Tay-Sachs disease grows and develops normally, because the missing HEX A enzyme is not vitally necessary until lipids begin to accumulate in nervous tissue.  By the time a Tay-Sachs baby is a year old, he or she will begin to lose sight, hearing, and movement.  Red spots will appear on the back of the eye, in the retina.  As the lipids continue to gather without being hindered by enzymes, the baby will experience seizures and grow more and more paralyzed, blind, and/or deaf.

 

A rare form of Tay-Sachs disease, in which HEX A is present but in extremely low quantities, does not become a nuisance until later in life.  In this form, the same process occurs, but with slightly different symptoms.  Adults with Tay-Sachs disease show symptoms such as slurred speech, lack of coordination, and weakness in the muscles.  Symptoms of older children and teenagers are similar to those of adults, but include cramping muscles, twitching muscles, and weak trunk muscles.  Weak trunk muscles cause difficulty in balance and rising to a standing position.

 

How is TSD Treated?

There is no cure for Tay-Sachs disease, but some symptoms can be treated.  The seizures can be prevented and treated with medication, and doctors can give medicine to help with the pain and twitching muscles.  Overall, the only current, proven way to help someone with Tay-Sachs disease is to treat the symptoms in an attempt to ease the pain or discomfort.

As there is currently no cure for Tay-Sachs disease, much research still has to take place before a cure will be found.  Currently, gene therapy as a cure is being researched.  Other possible cures have failed, so any monetary donation toward finding a cure is appreciated.  For more information, call (800) 973-2015 ext. 39. Donations may be mailed to The TSD Research Center, 3900 Michigan Avenue, Chicago, Illinois.  The more money received, the more research can be funded.