Myotonic Dystrophy Case Study

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In this article, myotonic dystrophy, the most common inherited type of muscular dystrophy found in adults, is discussed. This disease occurs one out of every eight thousand people and is said to get increasingly worse as it is passed down from generation to generation. Myotonic dystrophy affects people by making it to where they cannot relax their muscles after using them; for example, if someone with this disease were to grip something, they would have a hard time releasing that object. This hinderance in turn causes the muscles to become weak and waste away. This article examines two different case studies in which two individuals, from the same family, are found to have this muscular disease before symptoms of this actual disease occur. In the first case study, a thirty-nine year old woman visited her eye clinic for her regular checkup. During the examination, the doctor…show more content…
As noted, though, symptoms do not have to be present in order for one to be diagnosed with myotonic dystrophy: the daughter, for example. When the genetics of this disease, in these two individuals, were examined, the “expansion of CTG repeats in the DMPK gene” was found, and it was discovered that they both had DM1. Because of this research, we now know that patients can be diagnosed with myotonic dystrophy without having systemic symptoms; this disease can be found by physicians simply by a patient having “iridescent cataracts.” Finally, to discuss possible treatment options. Sadly, this disease has no treatment option that will completely rid it from the patient’s body. There has been medical advances, however, to help manage this diagnosis. The managing of this disease depends on where the patient stands symptomatically. These medical advances help allow the patient to live a fuller and longer life, by slowing the disease's progression on the patient's
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