Monday, August 19, 2019
Duchenne Muscular Dystrophy Essay -- Muscle Disorder Psuedohypertrophi
Duchenne's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles." Muscular Dystrophy has no cures, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and survival is rare beyond the early 30s, death is usually caused by a respiratory disease. (ygyh.org) Duchenne's muscular dystrophy is named after the French neurologist, Guillaume B. A. Duchenne, who lived from 1806 to 1875. In 1861 he became the first person to describe the disorder. In 1951 Elizabeth Shull Russell, an American geneticist, accidentally observed Duchenne's muscular dystrophy in a colony of mice with which she was working. Over a number of years she discovered that muscular dystrophy was a sex linked trait contained on the x-chromosome. (Narins, 798.) Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. (www.ncbi.nlm.nih.gov) Three different tests are used to determine if a male has Duchenne's muscular dystrophy. A CPK (also known as a CK) assay will detect muscle damage, but not the source. CPK is an abbreviation for Creatine Kinase Assay, which is essentially a blood test. Muscle biopsies are also common, a needle is inserted... ...nerated and replaced by fat. Recently, specific compounds in the oil have been identified, they produce regeneration that is even more amazing than that produced by the oil itself. (Gerras, 1056) This form of MD is normally appears in males, but there are a few extremely rare cases where it has appeared in females. Most of the statistics found only dealt with Duchenne muscular dystrophy in the U.S., so it is assumed that the disorder is more prominent in the United States. Also, there was no evidence that it affected any race more than another. (www.ygyh.org) Concluding, Duchenne?s muscular dystrophy is an excellent example of a sex-linked disease. Unfortunately, there is no cure but research is being used to find more effective treatments. Most deaths caused by the disorder aren?t directly due to the muscles, but due to a respiratory disease or disorder.
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