Duchenne Muscular Dystrophy

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Duchenne Muscular Dystrophy Located on the X chromosome lies a gene whose improper function would take from us what we often sloppily overlook -- our mobility. The freedom to dance with poise, to run with agility, to dress one’s self, to bend over and scoop a dropped pencil off the floor are all motions which are only dreamt of by those with Duchenne Muscular Dystrophy. An X-linked recessive disorder which can be exhibited in both males and females, DMD is most prominent in males, affecting 3500 boys in the world (McKusick). DMD affects muscle -- skeletal, smooth, and cardiac -- by causing degeneration (McKusick). Diagnosis occurs around five years old, and by age ten, a wheelchair is often necessary for the patient. The skeletal muscle degeneration is followed by the eventual deterioration of digestion and of the urinary tract. The onset of this is about age fifteen, and cardiac muscle failure occurs around age twenty-one, making the lives of patients with DMD end around age seventeen (McKusick). The gene whose mutation causes Duchenne Muscular Dystrophy is one that codes for the protein dystrophin (Bulman et al. 457). The gene for DMD was discovered first through gene cloning, and only later was the protein that it codes for, dystrophin, discovered (Evans et al. 310). Because of these two discoveries, diagnosis can occur by examining the gene or by looking for the presence of the protein dystrophin (Evans et al. 310). The disease can be detected at any age. In fact, a procedure has been developed which can diagnose DMD in utero using a muscle biopsy of the fetus (Evans et al. 310). Located on the X chromosome, the locus designation of the dystrophin gene is Xp21.2 (McKusick). This dystrophin gene has over 70 exons, an... ... middle of paper ... ...ular Dystropy in a Female Fetus ‘Suddenly at Risk’.” American Journal of Medical Genetics 46 (1993): 309-312. McKusick, V.A.; Hamosh, A.; Brennan, P.; Smith, M.; Antonarakis, S.E.; Hurko, O. 310200 Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne and Becker Types. 24 February 1999. Online. Internet. 29 March 1999. Available http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dismim?/310200 Mendell, J.R.; Kissel, J.T.; Amato, A.A.; King, W.; Signore, L.; Prior, T.W.; Sahenk, Z.; Benson, S.; McAndrew, P.E.; Rice, R.; Nagaraja, H.; Stephens, R.; Lantry, L.; Morris, G.E.; Burghes, A.H.M. “Myoblast Transfer in the Treatment of Duchenne’s Muscular Dystrophy.” The New England Journal of Medicine 13 (1995): 832-838. NCBI Genes and Disease Map: Duchenne Muscular Dystrophy. Online. Internet. 29 March 1999. Available http://www.ncbi.nlm.nih.gov/disease/DMD.html
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