An Overview of Tay-Sachs Disease

                Tay-Sachs Disease is a fatal autosomal recessive genetic condition. It is caused by an inactivity of the beta-hexosaminidase A enzyme which aids in the breakdown of gangliosides. This leads to the harmful buildup of ganglioside GM2, a fatty substance that is made and broken down very rapidly during infancy. The genetic mutation can be found on chromosome 15. The only way a child can develop this disease is if both of their parents are carriers and/or affected with Tay-Sachs Disease. It is recommended that those couples who are planning to start a family and have a family history of Tay-Sachs, have genetic testing and counseling.

                
               There are three types of this disease- Infant, Juvenile, and Late-Onset Adult. The Infant type is the most common of the three and most often develops when the baby is three to six months old. This type of Tay-Sachs usually results in the child dying before the age of four. Juvenile is the next most common and occurs around age, ten. Life expectancy of those patients with Juvenile Tay-Sachs usually pass away by the age of fifteen years old. The Late-Onset Adult Tay-Sachs is the rarest of the three and develops in the adult years.

                Common symptoms of Tay-Sachs disease include loss of muscle tone, mental retardation, decreased social skills, irritability, deafness, slowed growth, loss of motor skills, red spots on the eyes, inability to swallow, and blindness. More rare symptoms are seizures, dementia, and paralysis. As a patient with Tay-Sachs continues to develop, the symptoms usually tend to get worse and lead to death. Most commonly, lung infections take the lives of those affected with Tay-Sachs Disease.

                There is no known cure for Tay-Sachs, but medications may be prescribed to help keep the patient comfortable.  Some medications include anticonvulsants for seizures and pain medications. Prescribing a very nutritional diet and hydration plan can prolong a patient’s life. A feeding tube may be used when the patient has lost the ability to swallow and breathing tubes are also useful to help those with Tay-Sachs breathe and avoid infections of the lungs. Chest Physiotherapy relieves the patient of mucus, which may also contribute to lung infections. Physical therapy may be used to slow the stiffening of joints and maintain muscle tone.  There is research being done on gene therapy, stem cell transplantation, substrate reduction therapy, and the possible benefits of Zavesca and Pyrimethamine (PYR) medications.

                Tay-Sachs is considered a rare genetic disease, though it is estimated that 1 out of every 200 people carry the mutated gene. It is a serious condition that needs more attention and awareness.