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Tay -Sachs Disease

Tay -Sachs Disease. By Ivy Poon, Diana Jackson, and Annaliese Yostpile Mrs. G-M Period 4 2/8/11. Other Names for the Disorder. Tay -Sachs Disease B variant GM2 gangliosidosis TSD Hex A Deficiency Sohingolipidosis Tay -Sachs GM2 gangliosidosis , type 1.

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Tay -Sachs Disease

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  1. Tay-Sachs Disease By Ivy Poon, Diana Jackson, and AnnalieseYostpile Mrs. G-M Period 4 2/8/11

  2. Other Names for the Disorder • Tay-Sachs Disease • B variant GM2 gangliosidosis • TSD • Hex A Deficiency • Sohingolipidosis • Tay-Sachs • GM2 gangliosidosis, type 1

  3. How is the Disorder Inherited? • Autosomal recessive pattern • Both copies of the gene in each cell have mutations • Needs to have two recessive genes to have the disorder Can someone be a carrier for the disease? Yes!

  4. Frequency of the Disorder? • Occurs mostly among eastern & central European Jewish communities • Occurs with most infants • 1 in 27 Ashkenazi Jews are carriers • 1 in 250 people of the world’s population are carriers

  5. Symptoms/Effects & Prognosis of Someone with Disorder • Cherry Red Eyes • Seizures • Vision and Hearing Loss • Intellectual Disability • Paralysis • Muscle Weakness • Loss of Muscle Coordination • Speech Problems • Mental Illnesses • Slow Movement

  6. How is the Disease Diagnosed? • With a physical examination with details about the history and family hereditary • Blood test could determine if they are genetic carriers

  7. Treatments and Cure • No cure but active research is being done in many laboratories in the US & around the world • Clinical trial testing • Not enough information to slow & reverse the disease • No real treatment, only treatment to make patient comfortable • Respiratory Care-CPT to reduce lung mucus • Seizure medications • Feed children due to respiratory problems-nasogastric tube and PEG (Percutaneous) • Esophago-gastrostomy tube-physical therapy to simulate muscle & joints

  8. Other Information • Disorder that progressively destroys nerve cells in the brain and spinal cord • High risk of respiratory infection • Prevents the body from producing hexosaminidase A, an enzyme needed to break down fatty substances called GM2 gangliosidosis • GM2 gangliosidosis build up in the brain to toxic levels & affects the nerve cells

  9. Works Consulted "Childhood of Diseases." Gale Encylopedia of Science. N.p., 2008. Web. 31 Jan. 2011.<http://go.galegroup.com/ps/i.do?&id=GALE %7ccx2830100495&v=2.1&u=s0351&it=r&p=GVRL&sw=w>. The Cure Tay-Sachs Foundation. N.p., 2007. Web. 16 Dec. 2010. <http:// www.curetay-sachs.org/about.shtml>. Mayo Clinic. N.p., 2010. Web. 16 Dec. 2010. <http://www.mayoclinic.org/tay-sachs- disease/treatment.html>. "Tay-Sachs Disease." Genetic Conditions. 2010. Genetics Home Reference. Web. 16 Dec. 2010. <http://ghr.nlm.nih.gov/condition/tay-sachs- disease>. "Tay-Sachs Disease." Magill's Medical Guide. 4th ed. Vol. 5. 2008. Print.

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