TAY-SACHS DISEASE
Nicole Schmidt and Caroline Cator
TAY-SACHS
An inherited disorder resulting in gradual
destruction of the central nerve system.
 Metabolic disease- caused by malfunctioning of
processes in the body

http://www.sfn.org/index.aspx?pagename=brainBriefing
s_TreatingTaySachs
HOW IS TAY-SACHS INHERITED?
Autosomal Recessive on Chromosome 15
 Caused by a mutation in the Hex-A gene
 Hex A is necessary for breaking down GM2
gangosides in nerve cells and without enzyme the
build up of GM2 turns toxic and causes death
 Can be a carrier

http://www.allhealthsite.com/tay-sachs•
disease.html
https://isbbio2.wikispaces.com/TSCauses
FREQUENCY
1 in 250 carry the gene
 In all backgrounds and religions
 French-Canadians and the Cajun population
have greater risk of carrying it
 1 in 27 carry the gene in Ashkenazi Jews

http://tmp.kiwix.org:4201/A/Tay_Sachs_dis
ease.html
http://www.rachaeli.com/taysa
chs.htm
SYMPTOMS
Muscle spasms
 Deafness
 Blindness
 Paralyzation
 Red blotches in the retinas of the eyes
 Mental Retardation
 60% don’t have mental problems
 40% suffer from dementia, depression, and
hallucinations

TYPES OF TAY-SACHS
Infantile- starts before birth, cells begin to
destroy while in the womb, kids don’t live past
age 5
 Juvenile- Developed as a child
 Late Onset (LOTS)- developed as a teenager or
adult

http://www.causes.com/causes/126148-national-tay-sachsallied-diseases-association-inc-ntsad
HOW IS IT DIAGNOSED?
Women can get tests done to see if Hex-A is
present in the environment surrounding the
baby, if there is they don’t have Tay-Sachs
 Test determined by Hex-A level in blood
 Doctors look for the red colored spots in the eyes

http://taysachsdisease.ucoz.com/
TREATMENT
Any treatment is to reduce suffering of the
patient
 Doctors can give medicine to reduce muscle
spasms and seizures

CURE
There is no cure
 Scientists are in the process of stem cell research
 Test mice are being used

http://stemcellumbilicalcordblood.com/2010/03/
WORKS CITED
Freedman, Jeri. Tay-Sachs Disease. New York: Chelsea House, n.d. Print.
Izenberg, Neil. “Tay-Sachs Disease.” Human Diseases and Conditions.
N.p.: Charles Scribner’s Sons, 2000. Print. 3.
Macy Jr., Josiah. Tay-Sachs Disease. N.p., n.d. Web. 28 Jan. 2011.
Rizzo, Connie. “Tay-Sachs Disease.” Medical Guide. Ed. Dawn P Dawson. Vol. 5. 2008. Print.
“Tay-Sachs Disease.” Fact Monster. N.p., n.d. Web. 28 Jan. 2011.