Duchenne Muscular Dystrophy

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Duchenne Muscular Dystrophy (DMD) is a genetic mutation that is recessive and X- linked. It is located on the ‘p’ arm of the X chromosome (to be more specific, the Xp21 chromosome). DMD is also lethal meaning that the person affected by DMD will die because of it. Because DMD is located on the X chromosome, it mostly affects males. It is immensely uncommon for a female to inherit this gene because her father would have to have DMD and her mother would have to carry the gene. Theoretically, if a mother carries the gene and the father has DMD, there is a 25% chance that if they have a daughter, she will have DMD. But since DMD affects a very small amount of males, this outcome is extremely uncommon. Normal muscles contain a protein called dystrophin, which without it, the muscle cannot function properly. DMD is a disease that has a shortage of dystrophin in the muscles. The lack of this protein causes these side effects: delayed learning in speech, difficulty in normal activities such as running or walking, and fatigue. Many boys, by the age of six, will start to have abnormally large muscles, intellectual disability (which, if happens, does not worsen), and learning difficulties. Also, heart disease and respiratory problems usually begin by age 20. DMD causes pain and soreness that worsens very quickly, whereas Becker’s Muscular Dystrophy (a different type of muscular dystrophy) worsens much slower. Most boys will be incapable of waking by the age of 12 and will have to use a wheelchair. DMD affects 1 out of every 3,600 boy infants. Because this disease is genetic, the risk of DMD running in the family is very high (MedlinePlus 2013). With neurological, heart, and muscle exams, many signs of DMD may show. Some of the things th... ... middle of paper ... ...innett College website: http://wiki.ggc.edu/wiki/Duchenne_Muscular_Distrophy Duchenne muscular dystrophy. (2014). Retrieved January 25, 2014, from MDA website: http://mda.org/disease/duchenne-muscular-dystrophy/research Electromyography. (2014). Retrieved January 17, 2014, from Medline Plus website: http://www.nlm.nih.gov/medlineplus/ency/article/003929.htm GEN [Photograph]. (n.d.). Retrieved from http://www.genengnews.com/insight-and-intelligenceand153/gene-editing-with-multiple-molecular-means/77899829/ Muscular dystrophy - duchenne. (2011, January 30). Retrieved January 21, 2014, from Kaahe website: https://www.kaahe.org/health/en/ArabicSampleModules/modules/neurolo/nr2601a1/nr260103/nr260103.pdf Tidy, C. (n.d.). Duchenne muscular dystrophy. Retrieved January 15, 2014, from Patient.co.uk website: http://www.patient.co.uk/health/duchenne-muscular-dystrophy-leaflet

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