Tay-Sachs disease - Medical Genetics

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BY: Zach Kimmel
Tay-Sachs disease
•Tay-Sachs
disease is a genetic disorder that is
fatal in most occurrences.
•TSD
•GM2
•Hexosaminidase
•Sphingolipidosis
Warren Tay
Above is the strand of genes were the mutation occurs.
Symptoms/ How the disease is
passed on
There is a distinct red spot in the
eye of a patient with Tay-Sachs
Disease.
Types of Tay-Sachs
Infantile TSD
Juvenile TSD
Extremely rare, Juvenile Tay-Sachs disease usually occurs
in children between 2 and 10 years of age. They develop,
speech difficulties swallowing difficulties, and
unsteadiness. Patients with Juvenile TSD usually die
between 5–15 years.
It occurs in patients in their 20s and early 30s it is
frequently misdiagnosed, and is usually non-fatal.
Patients frequently become full-time wheelchair users
in adulthood, but many live full adult lives.
Psychiatric symptoms and seizures can be controlled
with medications. This form of TSD is very, very rare.
Prevention/Cure
Works Cited
http://en.wikipedia.org/wiki/Tay-Sachs
http://organizedwisdom.com/Adult_Onset_TaySachs_Disease
http://www.ninds.nih.gov/disorders/taysachs/taysac
hs.htm
http://kidshealth.org/parent/medical/genetic/tay_sa
chs.html
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