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Symptoms associated with Tay-Sachs disease may include an exaggerated startle response to sudden noises, listlessness, loss of previously acquired skills (i.e., psychomotor regression), and severely diminished muscle tone (hypotonia).ay Sachs Disease. Important. It is possible that the main title of the report Tay Sachs Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Tay-Sachs disease is caused by a mutation in the HEXA gene. A genetic mutation is a permanent alteration in the DNA sequence that makes up a gene. It causes one or more processes of the body to not work properly. A mutated HEXA gene results in the body not producing an enzyme called Hexosaminidase-A (Hex-A).ay-Sachs disease is a rare and usually fatal genetic disorder that causes progressive damage to the nervous system. Symptoms usually begin before a baby is six months old. Their development slows down and they gradually lose their ability to move.