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Tay-sachs. By J on B arnes . What is Tay-Sachs . Tay-sachs is the genetic disease that occurs in infants Usually in europe About 6 cases a year in the U.S. What causes it?. Tay-sachs is caused by a genetic mutation in the HEXA gene
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Tay-sachs By Jon Barnes
What is Tay-Sachs • Tay-sachs is the genetic disease that occurs in infants • Usually in europe • About 6 cases a year in the U.S.
What causes it? • Tay-sachs is caused by a genetic mutation in the HEXA gene • The HEXA gene is responsible for providing instructions for the nervous system and the brain stem • It is also responsible for making beta-hexosaminidase which create GM2 • GM2 is an important part of fatty acids
Who is the most at risk? • Studies have shown that the biggest people at risk of contacting Tay-Sachs are Jews • The age of visual presentation usually ranges from 3 to 10 months • Usually the child inflicted will not live past the age of 4 or 5 years old
symptoms • The symptoms are very severe and can range from blindness to slow growth • The symptoms a child with Tay-Sachs will go through is deafness, decreased muscle tone, paralysis, and seizers. • Along with those an afflicted child will have delayed mental and social skills, irritability, loss of motor skills, and increased startle reactions.
Signs of infection • The way doctors determine if a person is at risk for Tay-Sachs is that they will inquire about a family's history • Doctors will also do a blood or skin test to see if you have increased levels of hexosaminidase • Those infected with Tay-Sachs
Those looking for a cure • Many people are looking for a cure such as the CTSF the cure Tay-Sachs. • they have raised over 3,000,000 dollars in the cure
Works cited http://ghr.nlm.nih.gov/condition/tay-sachs-disease http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/ http://www.easybib.com/cite/eval?url=http%3A%2F%2Fwww.curetay-sachs.org%2F