Tay-Sachs Disease

BY: Zach Kimmel

Tay-Sachs disease

Tay-Sachs

disease is a genetic disorder that is

fatal in most occurrences.

Other Names
TSD
GM2
Hexosaminidase
Sphingolipidosis

Warren Tay
Was a British
ophthalmologist who
in 1881 first
described the red
spot on the retina of
the eye, which is
present in Tay-Sachs
Disease.

TSD is caused by a genetic mutation in HEXA gene on

chromosome 15. This Disease is most common in Jews.

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.

To the right is a diagram

of how two parents pass
on the trait for the
disease.

Types of Tay-Sachs
Infantile TSD
Juvenile TSD
Adult/Late Onset TSD

Infantile TSD
Infants appear to
develop normally for the
first six months of life.
Then, as nerve cells
become distended a
relentless deterioration
of mental and physical
abilities occurs. The
child becomes blind,
deaf, and unable to
swallow, and paralysis
sets in. Death usually
occurs before the age of
4 or 5.

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 515 years.

Adult/ Late Onset TSD

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
There is no real cure for this disease,
but there are many steps to
preventing the disease.
You can have a mate selection test to
see if your are and your partner are
carriers for the disease, and there is
also a process to test the mothers
egg to test for the disease.

Works Cited
http://en.wikipedia.org/wiki/Tay-Sachs
http://
organizedwisdom.com/Adult_Onset_Tay-Sachs_Dise
ase
http://
www.ninds.nih.gov/disorders/taysachs/taysachs.ht
m
http://
kidshealth.org/parent/medical/genetic/tay_sachs.ht
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