Chelsea Baidya

Biology P.4
03/31/15

Tay-Sachs Disease
Tay-Sachs disease is a rare disease
that progressively destroys nerve
cells (neurons) in the brain and
spinal cord.

Causes
Causes of Tay-Sachs disease, are that
they are inherited from the genes that
they have been given from their
mother or father. The gene does not
make a protein in the body called
hexosaminidase, without this protein,
chemicals called gangliosides build up
in nerve cells, destroying the brain.

Symptoms
Symptoms for Tay-Sachs disease are:
Trouble with babies walking
Cannot speak and read well by age
10
Muscle weakness

Incidence
Tay-Sachs disease is most
frequently found in babies ages 36 months.

Inheritance
This condition is inherited in an
autosomal recessive pattern. The
parents of an individual with an
autosomal recessive condition each
carry one copy of each mutated gene.

Diagnosis
A blood test is taken to measure the body
levels of hexosaminidase. A doctor may also
issue an eye examination to see if the
patient has the classic red spot in the middle
of the patients eye macula. Genetic
counseling is highly recommended.

Treatment
There is no cure for Tay-Sachs
disease, but doctors can only
maintain the symptoms from
getting too out of control.

Discovery
Tay-Sachs disease was discovered
in 1881, we have only known the
source for a few years.

Support
CTSF: Cure Tay-Sachs Foundation,
a foundation that supports
individuals with Tay-Sachs disease,
and also provides support to their
families as well.

Promotion
There are no celebrities that promote
Tay-Sachs disease sadly, since not
many people are aware of it.

References
http://www.curetay-sachs.org/about.shtml
http://kidshealth.org/parent/medical/genetic/ta
y_sachs.html
http://ghr.nlm.nih.gov/condition/tay-sachs-disea
se
http://my.clevelandclinic.org/childrens-hospital/
health-info/diseases-conditions/hic-Tay-Sachs
http://www.mayoclinic.org/diseasesconditions/tay-sachsdisease/basics/definition/con-20036799