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Duchenne's Muscular Dystrophy By: Timothy Taggart & Mark Miville-Deschenes
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Causes of DMD Duchenne's MD is caused when the DMD gene is mutated. The DMD gene produces a protein called Dystrophin. This protein helps stabilize and protect muscle fibers. Without this protein muscle fibers never relax causing them to weaken and eventually die.
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Pattern of Inheritance X chromosome Much more common in males Women can be carriers, and not show signs of the disease A man affected by DMD cannot have a son with DMD. Sex-linked
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Symptoms of DMD The earliest symptoms of DMD are trouble walking, trouble sitting down and even picking stuff up. The lower body weakens very fast while the upper body stays normal longer. By the age of 12 most patients are in wheelchairs because walking is too painful and because of abnormal bone growth. Severe heart and breathing conditions are the result of the muscle in the heart and lungs weakening. Most patients don’t live past 30, heart and breathing conditions being the main cause of death.
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Treatments Stop the symptoms Anti-congestive medications Heart transplant Breathing apparatus Prednisone and synthetic counterpart (Deflazacort)
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Ethical Issues Since MD only occurs in men if you chemically increase the chances of having a female offspring using a techniques called MicroSorting, the chances of Md running through your family are significantly decreased.
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Interesting Facts In 2007, 15 in 100,000 people were affected by Duchenne Muscular Dystrophy in the US. In 2009, 16 in 100,000 people were affected by the disease in Northern England. Signs of Muscle Weakness begin to be shown at around 5 years of age, and those affected by the disease are usually in a wheelchair by the age of 12. This disease can also show affect on brain tissue, as well as on the heart.
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Questions What protein does the DMD gene produce? A)Coronin B) Dystrophin C)Keratin D)Tubulin Patients with Duchenne's MD live around ___ years. A)12 B)50 C)20 D)30 Which part of the body is affected first? A)Face B)Lower body C)Arms D)Fingers
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Bibliography DMD gene. (2012, February). Retrieved April 10, 2016, from https://ghr.nlm.nih.gov/gene/DMDhttps://ghr.nlm.nih.gov/gene/DMD Facts about Muscular Dystrophy. (2016). Retrieved April 10, 2016, from http://www.cdc.gov/ncbddd/musculardystrophy/facts.html Learning About Duchenne Muscular Dystrophy. (2013, April 18). Retrieved April 10, 2016, from https://www.genome.gov/19518854 https://www.genome.gov/19518854 McCormack, P. (2010, October 19). Cell therapies for Duchenne muscular dystrophy: Some ethical issues for personalized medicines. Retrieved April 10, 2016, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2958424/
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