S

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.