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.