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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.
A rarer form of the disease known as Late-Onset Tay-Sachs exists, but this paper will focus on classic infantile TSD and explore its scientific and social implications. Definition and symptoms. TSD is defined as a genetic disorder that causes the progressive destruction of the central nervous system (2). TSD occurs in babies with the Tay-Sachs gene on chromosome 15 (1). All affected babies exhibit a red spot in the back of their eyes. TSD is caused by the absence of hexosaminidase A (Hex-A), an enzyme whose presence is necessary for the breaking down of acidic fatty materials known as gangliosides.