1. Tay Sachs By: Emily Kahl & Melanie Wolf

2. History of Tay Sachs Warren Tay • Warren Tay first discovered the red spot in the retina of the eye in 1881. • Bernard Sachs created a description for what goes on within the cell. Bernard Sachs http://taysachsdisease.ucoz.com/ http://www.mssm.edu/departments-and-institutes/neurology/programs-and-services/neurology-residency/department-history

3. Description of Tay Sachs • It is targeted in the Nervous System. • The absence of the gene HEX A - Chemical found in nerve tissue called gangliosides. • Deadly disease of the Nervous System. • Caused by a defective gene in chromosome 15. http://www.sfn.org/index.aspx?pagename=brainBriefings_TreatingTaySachs

4. How Tay Sachs is Transmitted • If both parents carry the gene, their child has a 25% chance of having Tay Sachs. • If only one parent has the gene, the child is only a carrier. • To be sick the child needs a gene from both parents. http://www.primehealthchannel.com/tay-sachs-disease-information-pictures-symptoms-and-treatment.html

5. Signs and Symptoms • Deafness • Blindness • Decrease Muscle Tone • Delayed Mental and Social Skills • Dementia • Loss of Motor Skills • Paralysis • Seizures • Slow Growth • Red Spot in the Retina http://www.tedmontgomery.com/the_eye/eyephotos/taysachsdisease.html

6. Life with Tay Sachs • No Treatment • No Way to Slow the Progression of Tay Sachs • Focus on controlling the symptoms with medications and keeping the airway open. • Focus on proper nutrition and hydration Child with Tay Sachs http://www.taysachsinfo.com/people-in-real-life.html

7. Life with Tay Sachs Child with Tay Sachs • Anti-consultant used to control seizures • Puree foods or cut into small pieces because of difficulty swallowing. • Disease will progress to spasticity, seizures, and loss of voluntary movements http://www.nytimes.com/2006/08/24/nyregion/24disease.html

8. Who can be affected by Tay Sachs? • Most common among Ashkenazi Jewish descendants. • Symptoms appear around 3-10 months. • The child has a lifespan of 4-5 years old. • Very rare in adults http://www.curetay-sachs.org/

9. Resources • http://nervous-system.emedtv.com/tay-sachs-disease/history-of-tay-sachs-disease.html • http://children.webmd.com/tc/tay-sachs-disease-topic-overview • http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/ • http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm • http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease The swollen neurons in Tay Sachs Disease http://medgen.genetics.utah.edu/photographs/pages/tay.htm