Tay-Sachs Disease: Good Genes Gone Bad
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Tay-Sachs Disease: Good Genes Gone Bad Daniel PerlmutterBlythe AcademyTay-Sachs is a relatively rare, but fatal genetic disease that is characterized by the progressive destruction of the neurons in the central nervous system. In its most common form, the disease affects infants and young children and typically results in death in early childhood (“Tay-Sachs Disease“, 2015) (McKusick & Hamosh, 1986). In order to gain a comprehensive understanding of Tay-Sachs, one must review the nature of the mutation causing the disease, common symptoms of the disease, the different types of the disease, methods of diagnosis, treatment approaches, the impact of the disease on day to day life, and much more. Tay-Sachs disease is caused by any wide variety of mutations in a gene called the HEXA gene which is found on chromosome 15 (“Tay-Sachs Disease“, 2015) (“Tay-Sachs Disease“,
The classic form of Tay-Sachs begins to develop at approximately 3 to 6 months of age when the affected child shows symptoms which may include muscle weakness, low muscle tone, an exaggerated Morrow or startle reflex to loud noise, and spasticity or tight muscles (“Tay-Sachs Disease“, 2015) (“Tay-Sachs Disease“,