Duchenne Muscular DystrophyWhat is Duchenne Muscular Dystrophy?Wendy LeeMs. WainmanBiology AMay 21, 2014SummaryI. IntroductionA. Importance of CaseII. BodyA. Duchenne muscular dystrophy1. Feature2. Real mutation3. Location4. Clinical signs5. Diagnosis6. Prognosis7. Treatment8. Current researchIII. Conclusion[Bibliography]I. IntroductionA. Significance of CaseDuchenne muscular dystrophy (DMD) is a muscular dystrophy that occurs only in boys. It is caused by mutation of the DMD gene that is inherited between families in an X-linked recessive manner, but it rarely occurs in people from families with no known family history of the disease. Starting with the lower extremities, people with DMD experience progressive loss of muscle function and weakness. The DMD gene, which codes for the muscle protein dystrophin, is the second largest gene. The muscle of the boy with Duchenne muscular dystrophy does not create dystrophin. Approximately 1 in 3,500 male births have Duchenne muscular dystrophy.II. BodyA. Duchenne muscular dystriphia1. CharacteristicsDuchenne muscular dystrophy is a physical disability that causes muscle laxity and bone weakness.2. Real mutation3. LocationThe DMD gene is located on the short arm of the X chromosome at position 21.2. More precisely, the DMD gene is located from base pair 31,119,221 to base pair 33,339,608 on the X chromosome. Figure 1 “Location of the DMD gene”4. SymptomsSymptoms usually appear before the age of 6. In most cases, the first visible symptom is the delay in sitting and standing independently. The average age of walking among boys in Duchenne muscular......middle of paper......e progression. In DMD, muscle fibers are continually damaged when muscles contract. This causes inflammation that further damages the muscles, leading to muscle wasting and a buildup of scar tissue (“fibrosis”). Research is underway into medications that may improve the body's ability to repair damaged muscles, suppress inflammation, and inhibit the formation of scar tissue. "Learn more about Duchenne muscular dystrophy". Learn more about Duchenne muscular dystrophy. National Human Genome Research Institute, April 18, 2013. Web. May 15, 2014. “DMD.” - Dystrophin. US National Library of Medicine, February 2012. Web. May 15, 2014. “Duchenne Muscular Dystrophy: MedlinePlus Medical Encyclopedia.” » United States National Library of Medicine. United States National Library of Medicine. Internet. May 20, 2014. “Diagnosis of Duchenne muscular dystrophy.” Association against muscular dystrophy. Internet. May 20 2014.