Tay-Sachs Disease By: Brianna Pinto, Siobhan McCarthy and Kiley McArtney.

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Presentation transcript:

Tay-Sachs Disease By: Brianna Pinto, Siobhan McCarthy and Kiley McArtney

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.

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

Treatment There is no effective treatment for this disease. However, there are screening and prevention programs available.

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.

Bibliography Tay-Sachs Disease (Genetic Diseases and disorders by Julie Walker. Human Diseases and Conditions by Neil Izenberg, M.D.