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Muscular Dystrophy - Research Paper Example

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Muscular dystrophy Name University Muscular Dystrophy Muscular dystrophy constitutes a group of various myopathies that are clinically and genetically different from each other. Muscular dystrophy presents mostly at birth and is an inherited disorder caused by chromosomal defects…
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Muscular Dystrophy Research Paper
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Download file to see previous pages Duchene’s dystrophy is the commonest types and occurs in an estimate of 0.14 per 1000 children, reflecting the high incidence of this particular type of muscular dystrophies (Votroubek and Townsend 1997). Muscular dystrophy is defined as a group of more than thirty diseases that are described by the presenting features of progressive muscle weakness and muscle wasting. Apart from Duchene muscular dystrophy (DMD), other common muscular dystrophies include Becker muscular dystrophy (BMD), limb girdle muscular dystrophy (LGMD) and myotonic dystrophy (DM) (Cavendish 2007). The causes of muscular dystrophies, risk factors, clinical features, diagnosis, treatment modalities and pediatric home care will be discussed in the additional study. Muscular dystrophies are autosomal inherited diseases and can either be autosomal recessive or autosomal dominant. Deficiency of the protein dystrophin that constitutes the muscle fibers is the basic cause of muscular dystrophy. Deficiency or absence of the dystrophin protein results in the various clinical forms of muscular dystrophies. For instance it is reduced in BMD and absent in DMD. The muscle dystrophies are X-linked as the gene for the dystrophin gene is located on the X-chromosome and show X-linked pattern of inheritance (Cavendish 2007). This pattern of inheritance suggests that first female relatives including mothers and sisters of the affected boys will have an increased risk of passing on the genetics of the disease to their sons. Myotonic dystrophy is another subtype of muscular dystrophy caused by the abnormal changes to a protein that regulates the cells of the muscle fibers. Myotonic dystrophy is inherited in an autosomal dominant pattern and hence unlike the X-linked pattern types, both males and females have an equal chance of acquiring it. Limb Girdle muscular dystrophy is also an autosomal dominant inherited disease, however some sub-types show autosomal recessive pattern, and is caused by abnormal changes in proteins that regulate the stability and protection of muscles. Some rare yet unique types of muscular dystrophy include Emery-Dreifuss muscular dystrophy for which 300 cases have been diagnosed in USA up till now. Oculopharyngeal muscular dystrophy is prevalent in only the French-Canadian families in Canada and Spanish-American families living in USA (Cavendish 2007). The clinical features mainly involve muscle wasting and progressive weakness. Dystrophy initiates during the preschool phase of the children. However, for some types, symptoms may start as late as late childhood, early adult life or adolescence. Although wasting of muscles is under process but fattening of calf muscles, especially, is noted this is due to the increased amount of fibrous tissue and fat tissue (Votroubek and Townsend 1997). Most skeletal muscle weakness has a “limb-girdle” pattern in which the proximal muscles are weaker as compared to the distal group of muscles. Axial muscle weakness can lead to scoliosis and can leave the patient wheelchair bound (Griggs et al 2011). DMD is characteristically described with the features of muscular looking calves, difficulty in walking, sitting and abnormal gait. BMD is a milder form of DMD and the onset and progression of symptoms is also late. Congenital DM is a severe form which onsets early at birth and the infants have difficulty breathing or feeding leading to 25% deaths in the first 18 months (Cavendish 2007). ...Download file to see next pagesRead More
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