1. 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

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 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

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., Web. 31
Jan <
%7ccx &v=2.1&u=s0351&it=r&p=GVRL&sw=w>. 
The Cure Tay-Sachs Foundation. N.p., Web. 16 Dec <
Mayo Clinic. N.p., Web. 16 Dec <
disease/treatment.html>.
"Tay-Sachs Disease." Genetic Conditions Genetics Home Reference. Web. 16 Dec.
2010. < disease>.
"Tay-Sachs Disease." Magill's Medical Guide. 4th ed. Vol Print.