1 / 10

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.

molimo
Download Presentation

Tay-Sachs Disease

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  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.

More Related