Tay Sachs

 Essay about Tay Sachs

Tay-Sachs Disease

Tay-Sachs is a genetic disorder found on chromosome 15. There are many types of Tay-Sachs, based on when it initial developed plus the symptoms that occur. The rare and life threatening disease is found most often in infants. There is a wide range of symptoms that can first start showing up as early as the first 3 to 6 months of your life. It is extremely rare for a child with Tay-Sachs to live over the age of five years of age. Tay-Sachs disease is a birth defect the effect of a dysfunctional enzyme that does not breakdown number of brain fats. The cause of the dysfunctional enzyme is the effect of a deficiency of a great enzyme named Hexosominidase A, or Hex A which is supposed to break up fatty substances in the neurological cells with the brain. When the lipids build-up in the minds nerve cellular material, it brings about a slower degeneration in the cells with the nervous program, thus taking decay of the cerebellum There are three types of Tay-Sachs depending on the extremities of the symptoms and believed life span and age if the disease will be developed; Which include Classic Infantile, Juvenile, and Late Onset Tay-Sachs. Typical Infantile may be the Tay-Sachs seen in infants. Babies with infantile Tay-Sachs look normal when they are born and typically continue to develop normally pertaining to the first six months of age. Around 6 months of age, advancement slows. Parents may detect a reduction in eye-sight and monitoring and the baby does not grow out of normal startle response. Tay-Sachs in children is known as Juvenile Tay-Sachs. Symptoms include deficiency of coordination or perhaps clumsiness and muscle weakness such as struggling with stairs. A kid may also display slurred presentation, swallowing problems and muscle tissue cramps. Another type of Tay-Sachs is Overdue Onset Tay-Sachs also known as " LOTS” which can be found in adults. In LOTS symptoms will be developed later on and include laziness and muscle weakness in the legs. Adults often indicate back to their childhood and could notice encountering symptoms...

Cited: Page

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/

http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm

http://www.ghr.nlm.nih.gov/condition=taysachsdisease

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