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Muscular Dystrophy

Essay by   •  March 23, 2011  •  Essay  •  951 Words (4 Pages)  •  1,562 Views

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The definition of Muscular Dystrophy is "a genetic disorder that progressively weakens the body's muscles". There are about nine different forms of this disease, which are inherited in various genetic patterns. Each pattern has an outcome that shows which exact version of Muscular Dystrophy the person will be diagnosed with. Each type has very similar symptoms, but is slightly different from the others. The disease is much more prevalent in males than in females. The reason for this is that the mutated gene which causes the disorder is located on the X chromosome; this is why the disease is considered to be sex-linked. Since males only have one X chromosome, only one altered copy of the gene in each cell is needed to be present to cause this condition. Females, however, have two X chromosomes, and a mutation must generally be present in both copies of the gene to cause the disease, therefore it is much more unlikely for females to inherit a form of Muscular Dystrophy. Another characteristic of the X-linked inheritance is that a father cannot pass the traits on to his son; this means that a son must inherit this disease from his mother. The first signs of Muscular Dystrophy show when a person is very young. They will begin by being a very clumsy toddler, and as they grow older, they will continue to trip and fall quite often and maintain very poor posture. Eventually, it progresses to the point where the child's parents feel the need to take them to see a doctor, where they will be tested and diagnosed with some variation of the disease.

For sixteen years I have watched someone very close to my heart live his life dealing with the worsening symptoms of Muscular Dystrophy. My Uncle Terry was diagnosed with a version of the disease called Duchenne Muscular Dystrophy about 32 years ago, at the age of seven. He had to begin using a wheelchair at the age of twelve. Duchenne is the most common type of the disease. The average life expectancy of a person with Duchenne Muscular Dystrophy is about twenty years. My uncle is currently 39 years old. He has lived almost two times the average lifespan of someone with his condition. I have grown up watching him gradually lose his muscle tone. Ever since I have known him he has had to live his life with a wheelchair and a hospital bed in his home. I can vividly remember the stages of his disease and how, as I have grown up around him, I have watched his symptoms worsen over the years. At first, when I was very young, his hands could function and he was able to play video games with my cousins on his Nintendo. In a few years, they were slowly losing function, and he could no longer play games anymore. Still, he could manage to hold an eating utensil and feed himself in his very own, unique way. Eventually, though, he needed someone to feed him by hand, and after a while, the only tasks he could carry out were writing and operating a television remote.

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