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Abstract
Lack of an enzyme known as hexosaminidase A is the main reason for the build-up of GM2 gangliosides within nerve cell, which causes Tay-Sachs disease, an inherited neurodegenerative illness. A blood test measuring enzyme levels as well as DNA sequencing are used to make the diagnosis, which can also be done during pregnancy. Symptoms like epilepsy and muscle stiffness are treated with supportive care as there is currently no cure. The HEXA gene upon chromosome 15 has a genetic mutation that causes it. The body lacks the hexosaminidase A enzymes as a result of this mutation. In the absence of this enzyme, the brain along with spinal cord accumulate GM2 ganglioside, a fatty material that damages nerve cells. The diagnosis of hexosaminidase A levels is made via a blood test. Chorionic villus sampling, or CVS, and amniocentesis are two prenatal diagnostics that can be used to examine the unborn child in families with a diagnosis of Tay-Sachs. Seizures and muscular stiffness can be controlled with medication. Nutritional support, feeding tubes, and physical therapy are examples of supportive measures. Additionally, doctors will conduct a physical examination to look for symptoms, for example the common "cherry-colored spot" on the retina. As of right now, Tay-Sachs illness has no known cure. Although enzyme substitute gene therapy, along with substrate reduction therapy are not yet common treatments, research is still being done on possible new ones.