Duchenne Muscular Dystrophy

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Duchenne Muscular Dystrophy

  1. 1. Duchenne Muscular Dystrophy Michaela Shaffer Periods 1 and 2 Genetic Disorders
  2. 2. Define the most common of several childhood muscular dystrophies, it is an inherited disorder (X-linked recessive) with progressive degeneration of muscle, onset is generally before age 6 years People with DMD lose muscle all there lives, but it is usually not noticed until a parent or caretaker finds unusual walking and/or talking around the age of 3
  3. 3. Incidence Rates Although girls rarely get this disease, females can still have some of the symptoms like weaker muscles in the back, legs and arms that fatigue easily. Some may need a wheelchair or other mobility aids. Carriers may have heart problems, and can have shortness of breath or failure to do moderate exercise. The heart problems, if untreated, can be quite serious, even life-threatening *About 1 in every 3,500 boys is born with DMD*
  4. 4. The figure shown below is the pictorial representation of the incidence of DMD in boys. The figure shown above is the pictorial representation of the incidence of DMD.
  5. 5. Cause The Muscle-Fiber Membrane Muscles are made up of bundles of fibers (cells). A group of interdependent proteins along the membrane surrounding each fiber helps to keep muscle cells working DMD is caused by a properly. When one of these mutation in the proteins, dystrophin, is absent, the result is gene that produces Duchenne muscular an important dystrophy. muscle protein called dystrophin, which is not produced
  6. 6. How boys are affected
  7. 7. How girls are affected
  8. 8. Alternative Names
  9. 9. Symptoms Early Later o Delayed Onset Walking oDifficulty getting up from o Difficulty in performing a standing a chair jump oLoss of ability to climb o Waddling when walking stairs o Difficulty standing up oWide gaited walk w/ balance problems o Enlarged Calves
  10. 10. More Symptoms • Fatigue • Mental retardation (possible, but does not worsen over time) • Muscle weakness ▫ Begins in legs and pelvis, also occurs less severely in the arms, neck, and other areas of the body ▫ Difficulty with motor skills (running, hopping, jumping) ▫ Frequent falls ▫ Rapidly worsening weakness • Progressive difficulty walking. Ability to walk may be lost by age 12 • By age 10, the person may need braces for walking. By age 12, most patients are confined to a wheelchair.
  11. 11. Possible Complications • Cardiomyopathy • Congestive heart failure (rare) • Deformities • Heart arrhythmias (rare) • Mental impairment (varies, usually minimal) • Permanent, progressive disability • Decreased mobility • Decreased ability to care for self • Pneumonia or other respiratory infections • Respiratory failure
  12. 12. Treatment Treatment varies on your child's age, overall health, and medical history the extent of the condition the type of condition your child's tolerance for specific medications, procedures, or therapies expectations for the course of the condition your opinion or preference
  13. 13. Treatment Can include... •physical therapy •positioning aids - used to help the child sit, lie, or stand •braces and splints - used to prevent deformity, promote support, or provide protection •medications •nutritional counseling •psychological counseling
  14. 14. Treatment There is no cure yet for DMD, however case and symptom management is currently “successful” Right now there are many clinical trials in process, like administering Albuterol (beta adrenergic receptor agonist drug that increases strength and muscle mass) also, they want to treat with Utrophin (sometimes can be substituted for dystrophin) Embryonic stem cell transplants is another treatment they are looking into. It is hoped that injecting healthy, nonspecialized stem cells into DMD victims will cause the stem cells to specialize and produce structurally and functionally correct dystrophin. If dystrophin can be produced, it may slow the progression of the disease, or cure it altogether.
  15. 15. what All in all, really kills the people affected by DMD is the failure of the heart muscles… (death usually occurs by age 25)
  16. 16. Support Groups •Duchenne Muscular Dystrophy Support Group • MDA (Muscular Dystrophy Association
  17. 17. Works Cited http://depts.washington.edu/pwdlearn/web/glossary/glossary.htm http://www.mda.org/publications/fa-dmdbmd-family.html http://health.nytimes.com/health/guides/disease/duchenne-muscular- dystrophy/overview.html http://www.ikm.jmu.edu/Buttsjl/ISAT493/Duchenne%20Muscular%20Dy strophy/duchennesymptoms.html http://genetics.kaiser.org/home/genetics101highlights.htm http://www.nlm.nih.gov/medlineplus/ency/imagepages/19097.htm

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