By Ivy Poon, Diana Jackson, and Annaliese Yostpile 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

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!

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

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

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

Treatments and Cure 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 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

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

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.