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Genetic Disorders: Duchenne Muscular Dystrophy Essay

1098 words - 4 pages

Duchenne Muscular Dystrophy is an inherited genetic disorder that consists of extreme muscle weakness, which rapidly worsens, and over time leads to death. Young newlyweds, Molly and Brent are seeking information on the health of their possible children. Molly’s younger brother, Hunter, has Duchenne Muscular Dystrophy, he suffers and is confined to a wheelchair due to this genetic disorder. Molly and Brent want research done on behalf of their future kids, so they can understand the risk they are taking in having children.
It is important for Molly and Brent to be informed and understand the basic genetic information about Duchenne Muscular Dystrophy. Duchenne Muscular Dystrophy is located on the X chromosome, a sex chromosome of the human body. This is why the genetic disorder is common in males. The mode of inheritance of traits for the genetic disorder DMD is recessive and sex-linked. This means is only inherited when the allele is fully recessive, and is linked to males in most cases. The couple should understand these things, they are the basis of the inheritance of DMD.
This disorder is diagnosed only when suspected, it is not a mandatory test at birth. Once symptoms are noticed, blood tests, and muscle biopsy can be done. However, in many cases Duchenne Muscular Dystrophy runs within families. When suspected, families should run tests and discover the disorder as soon as possible, they can do this through a series of genetic tests. The sooner the genetic disorder is recognized and treatment begins, the better the quality of life for the child will be.
The symptoms of Duchenne Muscular Dystrophy are intense, and devastating to the quality of life of those with the genetic disorder. Those suffering will frequently experience fatigue, because they work much harder to function every day. Many children have learning difficulties and intellectual disabilities due to this disorder, which can be devastating to their education. Lastly, and most importantly, muscle weakness is a symptom of DMD, and will progressively worsen as the child grows older. Looking for these symptoms is important, so that appropriate treatment may be provided.
There is no cure for Duchenne Muscular Dystrophy at this time, however, there are treatment options that can improve the quality of life for those suffering from the disorder. There are small measures that can be a part of everyday routines that can be beneficial. This includes steroids for muscle growth, albuterol, fish oil supplements, vitamin E, and green tea extracts. Also, there are more radical measures that can be taken to help; including assisted ventilation, drugs to assist heart function, orthopedic appliances, and proton pump inhibitors. For the emotional aspect of the disorder, support groups are proven to be beneficial for those suffering with Duchenne Muscular Dystrophy. All of these measures can improve and lengthen the lives of those who inherit this disorder.
It is extremely important to...

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