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Tay-Sachs Disease

Tay-Sachs Disease. Nicole Schmidt and Caroline Cator. Tay-Sachs. An inherited disorder resulting in gradual destruction of the central nerve system. Metabolic disease- caused by malfunctioning of processes in the body. http://www.sfn.org/index.aspx?pagename=brainBriefings_TreatingTaySachs.

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Tay-Sachs Disease

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  1. Tay-Sachs Disease Nicole Schmidt and Caroline Cator

  2. Tay-Sachs • An inherited disorder resulting in gradual destruction of the central nerve system. • Metabolic disease- caused by malfunctioning of processes in the body http://www.sfn.org/index.aspx?pagename=brainBriefings_TreatingTaySachs

  3. How is Tay-Sachs inherited? • Autosomal Recessive on Chromosome 15 • Caused by a mutation in the Hex-A gene • Hex A is necessary for breaking down GM2 gangosides in nerve cells and without enzyme the build up of GM2 turns toxic and causes death • Can be a carrier • https://isbbio2.wikispaces.com/TSCauses http://www.allhealthsite.com/tay-sachs-disease.html

  4. Frequency • 1 in 250 carry the gene • In all backgrounds and religions • French-Canadians and the Cajun population have greater risk of carrying it • 1 in 27 carry the gene in Ashkenazi Jews http://tmp.kiwix.org:4201/A/Tay_Sachs_disease.html http://www.rachaeli.com/taysachs.htm

  5. Symptoms • Muscle spasms • Deafness • Blindness • Paralyzation • Red blotches in the retinas of the eyes • Mental Retardation • 60% don’t have mental problems • 40% suffer from dementia, depression, and hallucinations

  6. Types of Tay-Sachs • Infantile- starts before birth, cells begin to destroy while in the womb, kids don’t live past age 5 • Juvenile- Developed as a child • Late Onset (LOTS)- developed as a teenager or adult http://www.causes.com/causes/126148-national-tay-sachs-allied-diseases-association-inc-ntsad

  7. How is it diagnosed? • Women can get tests done to see if Hex-A is present in the environment surrounding the baby, if there is they don’t have Tay-Sachs • Test determined by Hex-A level in blood • Doctors look for the red colored spots in the eyes http://taysachsdisease.ucoz.com/

  8. Treatment • Any treatment is to reduce suffering of the patient • Doctors can give medicine to reduce muscle spasms and seizures

  9. Cure • There is no cure • Scientists are in the process of stem cell research • Test mice are being used http://stemcellumbilicalcordblood.com/2010/03/

  10. Works Cited Freedman, Jeri. Tay-Sachs Disease. New York: Chelsea House, n.d. Print. Izenberg, Neil. “Tay-Sachs Disease.” Human Diseases and Conditions. N.p.: Charles Scribner’s Sons, 2000. Print. 3. Macy Jr., Josiah. Tay-Sachs Disease. N.p., n.d. Web. 28 Jan. 2011. Rizzo, Connie. “Tay-Sachs Disease.” Medical Guide. Ed. Dawn P Dawson. Vol. 5. 2008. Print. “Tay-Sachs Disease.” Fact Monster. N.p., n.d. Web. 28 Jan. 2011.

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