Sandhoff’s Disease> Tay Sachs

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“The carrier rate for Tay-Sachs in the general population is 1/600” (OMIM). Sandhoff Disease is a rare genetic disorder, and it is a severe form of Tay-Sachs that progressively destroys cells in the brain and spinal cord. Since its discovery and analysis of inheritance, there have been advancements of its diagnosis, treatment, research, and its support resources for affected families. Those affected individuals lose motor skills and function of other body parts. As the disease progresses they experience seizures, vision/hearing loss, mental disability, paralysis, and a cherry red spot on the eye. This leads to loss of coordination, alertness, and respitory health. The disease has three forms infantile, juvenile, and late-onset. In infants symptoms usually begin at 6 months, and most don’t live past 3 years old. The juvenile and late-onset cases are mild compared to infants and the life expectancy varies. These mutated genes have many components that go into the evolution and complexity of Sandhoff’s existence. There are many factors involved in the complexity of Sandhoff’s history, causes, and inheritance. Drs. Horst Jatzkewitz, Hartmut Pilz, and Konrad Sandhoff made the discovery of this disease in 1965. Originally these men were observing enzymes, and they found a new case of Tay-Sachs. It was then classified as an abnormal form of Tay-Sachs, but it was called Sandhoff due to the fact Konrad was given the most credit for its discovery. The determined cause of the disorder is an absence or reduced amount of the Hex A and Hex B enzyme. Without these, lipids abnormally build causing damage to cells. As a result of Sandhoff being an autosomal recessive disorder located on the 5q13 chromosome. Both parents have to be a carrier in o... ... middle of paper ... ...e, Sept. 2008. Web. 10 Feb. 2014. . McKusick, Victor A., Cassandra L. Kniffin, and Joanna. "#268800-Sandhoffs Disease." Online Mendelian Inheritance In Man, 25 Mar. 2009. Web. 10 Feb. 2014. . MOD. "Tay-Sachs and Sandhoff diseases." Birth Defects. March of Dimes, Dec. 2009. Web. 12 Feb. 2014. . NTSAD. "Sandhoff." NTSAD. National Tay Sachs & Allied Diseases, Jan. 2014. Web. 17 Feb. 2014. . Office of Communications and Public Liaison . "NINDS Sandhoff Disease Information Page." National Institute of Neurological Disorders and Stroke (NINDS). National Institute of Health, 6 Oct. 2011. Web. 14 Feb. 2014. .

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