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Duchenne M uscular Dystrophy

Duchenne M uscular Dystrophy . Michele Munkhaugen and Michelle Mendoza 3 rd period. Genetics of the disease . Sex-linked- carried on the x chromosome Caused by mutations specially deletions and some duplications The mutations are called dystrophinopathies . Symptoms of the disease.

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Duchenne M uscular Dystrophy

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  1. DuchenneMuscular Dystrophy Michele Munkhaugen and Michelle Mendoza 3rd period

  2. Genetics of the disease • Sex-linked- carried on the x chromosome • Caused by mutations specially deletions and some duplications • The mutations are called dystrophinopathies.

  3. Symptoms of the disease • Fatigue • Mental retardation ( possible) • Muscle weakness and deformities a. beings in the legs and pelvis but also occurs less severely in the arms neck and other areas of the body b. difficulty with motor skills c. rapidly worsening weakness d. abnormal heart muscle • Ability to walk my be lost at age twelve • Early death normally early 20s

  4. Electro cardio gram of patient with Duchene muscular dystrophy Normal electro cardio gram

  5. Where can it be found • This disease can be found on the Xp21 chromosome. • It is the largest gene identified in humans • The defective gene is located on the chromosome that is responsible for the production of dystrophin, which helps in normal muscle function

  6. How is the disease treated/prevented • There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to maximize quality of life. • Activity is encouraged such as physical therapy and orthopedic appliances. Wheelchairs may improve mobility. • Prevention- genetic counseling is advised if there is a family history of the disorder. You can use genetic studies during pregnancy to see if your baby has the disease.

  7. Famous people • Greg Smith is “America’s Strength Coach” • Mattie J.T. Stepanek he was a three term national ambassador for the Muscular Dystrophy Association

  8. History • Duchenne muscular dystrophy was first described by the French neurologist Guillaume Benjamin AmandDuchenne in the 1860s.

  9. Bibliography • http://www.mda.org/publications/fa-dmdbmd-what.html • http://www.uptodate.com/contents/search?source=USER_PREF&search=duchenne&searchType • www.mattieonline.com • www.americasstrengthcoach-worldpress.com • The Ferrel family

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