Tay-Sachs disease is a rare inherited condition that gets worse with time (progressive). Tay-Sachs disease is characterized by the breakdown of the brain and the nerve cells. There are several different forms of Tay-Sachs disease, which differ based on the time of onset and severity. This disease in mostly seen in the Ashkenazi Jew population who descended from Central or Eastern Europe.
The HEXA gene, located on chromosome 15, is responsible for providing the directions to make a particular protein in the cells. When this gene is altered (mutated), the intended protein doesn’t function properly, and results in a buildup of a toxic chemical in the brain and spinal cord. As a result, symptoms begin to develop that may include deafness or blindness, decreased muscle tone, paralysis, seizures, developmental delays, and a cherry-red spot visible on the eyes.
This condition is inherited (passed through families) in an autosomal recessive manner. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers, their children have a one in four chance (25%) of having the disease.
Tay-Sachs disease is a very serious condition that is unfortunately fatal. Although there is currently no cure, there is research underway to help improve the quality of life in addition to extending the individual’s life expectancy. Doctors seek help from various therapists and community services to provide support and care for families. Talk with a genetic counselor or specialist if you or someone in your family has been diagnosed with Tay-Sachs disease.