Duchenne Muscular Dystrophy (DMD)

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t is a generally accepted fact that young boys are active individuals. They are often depicted as rambunctious and mischievous, constantly jumping, running, and playing. However, for boys with Duchenne Muscular Dystrophy (DMD), this stereotype is not a reality. DMD is an abnormality found on the X-chromosome that deprives the body of dystrophin, a structural protein that maintains the structure of a muscle cell. DMD is the most common fatal genetic disorder identified in children, and is ultimately fatal to those with the disease. The inheritance of DMD is usually linked to the mother, but there are many occurrences in which a spontaneous abnormality occurs in the X-chromosome during pregnancy, causing an alteration within the gene. One in …show more content…
Boys who suffer from DMD will usually be late walkers, because they will not have the necessary muscle strength to begin walking as early as the average child. Children with the disorder will typically have enlarged calf muscles due to the abnormal structure of their muscle tissue (which may contain excess scar tissue). Toddlers with DMD will often be described as clumsy, and may fall frequently or have trouble running or climbing stairs. Boys with DMD also have a unique way of getting up off of the floor. It is a technique called the Gowers’ Maneuver. In this maneuver, the child will get up first onto his hands, and then walk their hands up their legs in order to raise their upper body. This technique compensates for a lack of leg strength and is a tell tale sign of DMD. DMD will cause progressive weakness of vital muscles, such as the heart and lungs, and eventually victims of the disease will find it hard to walk, talk, or even breathe. Children with Duchenne are typically able to live into their late twenties, and usually die because of a lung-related …show more content…
Every year, 20,000 new cases of DMD are diagnosed worldwide. In the U.S., about 15 out of every 100,000 males ages 5-24 are diagnosed with Duchenne Muscular Dystrophy, which categorizes it as a relatively rare disorder in the U.S., though there seems to be an abundance of communities and programs for parents who are struggling to raise a child with DMD. Though the actual occurrence of the disorder may be low, there is no lack of support for patients and their families. Though there are currently no statistics regarding the prevalence of DMD in North Carolina, there is a program called MD STARnet that is being developed in the research triangle to try and track not only the prevalence of DMD in North Carolina, but also the relationship between DMD and

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