Dorothy

Dorothy Finley

 = Tay-Sachs disease = **What is Tay-Sachs disease?** Tay-Sachs disease is a fatal genetic lipid storage disorder where ganglioside build up in tissues and knerve cells in the brain. Tay-Sachs is caused when beta-hexosaminidase don't perform proficiently enough and it is an autosomal disorder because both copies of the gene in each cell have mutations. Tay-Sachs disease affects chromosome fifteen. There are different types of Tay-Sachs disease, there is infantile Tay-Sachs disease, which is most common, and there is Juvenile Tay-Sachs disease which is much more rare and there is adult Tay-Sachs disease. The most common form of Tay-Sachs occurs usually after the child turns six months. **Symptoms:**
 * Infantile Tay-Sachs disease: **

* Blindness * Becomes deaf * The child loses ability to swallow * Paralysis occurs * Death occurs around age 4-6 ** Juvenile Tay-Sachs disease: ** Occurs usually in children between two and ten, however this type of Tay-Sachs is very rare. **Symptoms:** * Development of speech problems * Swallowing difficulties ** * **Unsteady limbs * Death usually occurs at ages 5-15 Another rare form of Tay-Sachs that occurs in people that are in their twenties and early thirties. This form of Tay-Sachs is often non-fatal. * Unsteady limbs * Speach problems * swallowing difficulties ** * **Phsyciatric issues, most commonly skizophrenic like phsycosis **Statistics:** ** * **Only one in 300 people in the United states are carriers
 * Adult Tay-Sachs disease: **
 * Symptoms: **

** * **About one in every 27 Jewish people are carriers for Tay-Sachs because Jewish people are most likely to be a carrier of the disease ** * ** 1 in 250 are carriers of Tay-Sachs in the general poopulation **Extra facts:** ** * ** Tay-Sachs got its name beacause Warren Tay was the first to describe the red spot on the retina which is now the marker to determine if people have Tay-sachs or not and Bernard Sachs first described the changes in the brain ** * ** Tay-sachs can be recognized before birth if couples get blood tested to see if their child would most likely have it. ** * ** It is predicted that there are between 75 and 100 different mutations that cause Tay-Sachs ***** In the U.S there are an estimated 1.2 million Tay-Sachs carriers, most of which have never heard of the disease.
 * * ** Every 1 in 50 people who are of Irish-American decent are carriers for Tay-sachs.

http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm http://ghr.nlm.nih.gov/condition/tay-sachs-disease