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Duchenne Muscular Dystrophy

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  1. Duchenne Muscular Dystrophy Erin Kim

  2. What is Duchenne Muscular Dystrophy? • Duchenne Muscular Dystrophy (DMD) is a type of muscular dystrophy is a recessive genetic disorder causing the fast deterioration of muscles.

  3. Symptoms • symptoms usually start to become visible to the naked eye from infancy to around five years old. • When they do start to walk, they walk in a weird way, only walking on the balls of their feet • This is because they have increased calf muscles. However this muscle is very soon replaced by fatty tissue.

  4. DATA: DMD

  5. DATA: IQ • Another symptom of DMD is a slight mental retardation such as dyslexia, or learning disabilities.

  6. Inheritance • The Dystrophin gene is a gene located on the X chromosome (sex-linked disease) • Females are rarely affected (X- inactivation) • 30% of dystrophin mutations occur spontaneously

  7. Tests • electromyopathy test – insertion of needle, recording of electricity. (When muscles contract and release, there is usually an electric current flowing through the tissue) • “Serum CreatineKinase Test” looks for a build up of kinase in the bloodstream • muscle biopsy- Here a piece of muscle is removed and examined. If the cells are big and filled with fatty tissue then that means that person has DMD electromyopathy test

  8. Primary Cause/ Life Span • DMD is caused by the lack of Dystrophin, (a protein) in the cell membrane of muscles • People with DMD usually die by 20 years of age because their heart and diaphragm have deteriorated.

  9. Cure? Support groups? • Currently there is no cure for DMD, but many studies are being done to try and find cures. • Many DMD patients go to physical therapy to keep their muscles in the best condition they can • The Muscular Dystrophy Association (MDA) is a large support group that helps people with muscular disorders

  10. Bibliography • "AllRefer Health - X-linked recessive genetic defects - Duchenne muscular dystrophy Pictures & Images (Pseudohypertrophic muscular dystrophy, Muscular dystrophy - Duchenne type)." AllRefer Health. N.p., n.d. Web. 9 Mar. 2011. <http://health.allrefer.com/health/duchenne-muscular-dystrophy-x-linked-recessive-genetic-defects.html>. 
 

"Cure Duchenne Muscular Dystrophy PSA Video." Meo News. N.p., n.d. Web. 9 Mar. 2011. <http://www.meonews.com/cure-duchenne-muscular-dystrophy-psa-video>. 

"DMD." Parent Project. Parent Project Muscular Dystrophy, n.d. Web. 9 Mar. 2011. <www.parentprojectmd.org.np/Contents/Main/DMD_Details.html>. 
 
"DMD/BMD portal: Muscular dystrophy | The Central Database of Czech DMD/BMD Muscular Dystrophy Patients." DMD/BMD portal: Project | The Central Database of Czech DMD/BMD Muscular Dystrophy Patients. N.p., n.d. Web. 9 Mar. 2011. <http://dystrofie.registry.cz/index.php?f=muscular-dystrophy>. 
 
rne. "eMJA: Duchenne muscular dystrophy: hopes for the sesquicentenary." eMJA The Medical Journal of Australia. N.p., n.d. Web. 9 Mar. 2011. <http://www.mja.com.au/public/issues/179_09_031103/byr10494_fm.html>. • "Arquivos de Neuro-Psiquiatria - Duchenne muscular dystrophy: alpha-dystroglycanimmunoexpression in skeletal muscle and cognitive performance." SciELO - Scientific Electronic Library Online. N.p., n.d. Web. 9 Mar. 2011. <http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000600015>. 
 

"Method of early detection of Duchenne muscular dystrophy and other neuromuscular disease - Patent 6875418." Patent Searching and Inventing Resources. N.p., n.d. Web. 9 Mar. 2011. <http://www.freepatentsonline.com/6875418.html>. 
 

"Muscular Dystrophies." mda. MDA, n.d. Web. 9 Mar. 2011. <www.mda.org.au/Disorders/Dystrophies/DMD-BMD.asp>.