Tay-Sachs Disease By: Brianna Pinto, Siobhan McCarthy and Kiley
McArtney
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What is it? Tay-Sachs disease is when fatty substances cannot
be broken down because there is an enzyme missing. Therefore, fat
accumulates so much that cells can no longer function.
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Symptoms Deterioration of the nervous system, affecting the
brain. Seizures Blindness Paralysis Mental retardation Clumsiness
Loss of coordination Mood swings Muscle weakness/twitching Slurred
speech
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Treatment There is no effective treatment for this disease.
However, there are screening and prevention programs
available.
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How is it inherited? Tay-Sachs disease is located on Chromosome
15. This chromosome produces the enzyme hex A. the enzyme prevents
that abnormal build up of GM2 (Lipid that destroys cells). There is
a 50% chance of passing the disease down to offspring.
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Bibliography Tay-Sachs Disease (Genetic Diseases and disorders
by Julie Walker. Human Diseases and Conditions by Neil Izenberg,
M.D.
