Muscular Dystrophy

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Muscular Dystrophy
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Muscular dystrophy, MD, is a group of inherited muscle diseases that weaken the muscles that help the body move (Clark, 1995). There are nine major forms of MD. These are Myotonic, Duchenne, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, and Emery-Dreifuss (Wikipedia contributors, 2009). The type of disease is based on a few factors which are as follows: when in a person’s life MD appears, the degree to which the muscle is affected, how the disease came about, and the rate at which the symptom progresses. The cause of MD is linked to defects in certain genes and is determined by which gene is defective. This disease is inherited. In rare cases, muscular dystrophies aren’t inherited and occur because of a new gene abnormality or mutation (WebMD, 2005). The symptoms of the diseases vary depending on the type of MD. The main symptoms are progressive muscular wasting, poor balance, frequent falls, walking difficulty, waddling gait, calf pain, limited range of movement, respiratory difficulty, drooping eyelids (ptosis), gondal atrophy, scoliosis and finally the inability to walk (Wikipedia contributors, 2009). Symptoms are not always present for diagnosis. Often the disease is diagnosed based on the results of a muscle biopsy. Sometimes all that is needed for diagnosis is a DNA blood test. There is no cure for any of the muscular dystrophies (WebMD, 2005). However, there are forms of therapy that reduce the muscle degeneration caused by MD. The therapies also vary depending on the type of MD. Some of the forms of helpful therapy include the following: Physical therapy, occupational therapy, orthotic intervention, speech therapy, and orthopedic instruments (Wikipedia contributors, 2009).

According to Dowshen, Izenberg, and Bass (2002), all kinds of muscle dystrophy diseases are produced by the loss of muscle tissue caused by a genetic disorder. This loss of tissue is developed in the muscle cells, which become unable to perform their vital functions in the body. In the nucleus of cells, a single faulty gene in the DNA can cause diverse mutations, but muscular dystrophy, MD, results in the deficiency production of the dystrophin protein. Two most common forms of muscular dystrophy include the Duchene and Becker. In Duchene muscular dystrophy (DMD), the lack of dystrophin contributes to the weakness of cell membranes until the muscle gets seriously damaged and lost, leading to death of children due to respiratory failure. DMD is the most common and severe type, affecting 1 in 3,600 boys. Since DMD is carried in the X-linked chromosome, mostly boys inherit the disease, while the presence of a normal gene prevents the development of this disease in girls. Becker muscular dystrophy (BMD) could be considered less serious than DMD, since it consists of the partial amounts of dystrophin produced. At this time, the causes of this disease have been found only inherited in the genes of the affected person, or most common children (Dowshen et al, 2002). Symptoms

Symptoms of Muscular Dystrophy, MD, vary from type to type. However, there are generalities that they all commonly share, such as: muscle weakness, lack of coordination, and gradually developed crippling, which results in loss of mobility, (Medical Encyclopedia, 2004). Becker’s MD, BMD, is considered to be a lesser case of Dystrophinopathy (a category of MD that branches off into different types and is a result of a genetic defect in the protein dystrophin.) (Medical Encyclopedia, 2004). Usually affecting older boys to younger men, BMD starts at

around the age of eleven to mid-twenties. Although Duchenne MD, DMD, is the most sever form of dystrophinopathy, the only difference between BMD and DMD is the age of onset, the level of intensity, and in DMD nearly the entire body is affected (MFMER, 1998). Usually most people affected by DMD die by their later teen years to early...
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