Duchenne Muscular Dystrophy - PowerPoint PPT Presentation

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Duchenne Muscular Dystrophy

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  1. Duchenne Muscular Dystrophy Michaela Shaffer Periods 1 and 2 Genetic Disorders

  2. Define themost commonof several childhood muscular dystrophies, it is an inheriteddisorder (X-linked recessive) with progressivedegeneration of muscle, onsetis generallybefore age 6 years People with DMDlose muscle all there lives, but it isusually not noticeduntil a parent or caretaker findsunusual walking and/or talking around the age of 3

  3. Incidence Rates Althoughgirls rarely get this disease, females can still have some of the symptoms likeweaker 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 *About1 in every 3,500boys is born with DMD*

  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. Cause DMD iscaused by a mutation in the genethatproduces an important muscle protein called dystrophin, which is not produced

  6. How boys are affected

  7. How girls are affected

  8. Alternative Names Pseudohypertrophic Muscular Dystrophy Abv.: MDM

  9. Symptoms • Early • Delayed Onset Walking • Difficulty in performing a standing jump • Waddling when walking • Difficulty standing up • Enlarged Calves • Later • Difficulty getting up from a chair • Loss of ability to climb stairs • Wide gaited walk w/ balance problems

  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. 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. 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. 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. Treatment There isno cureyet for DMD, howevercase and symptom management is currently “successful” Right now there are manyclinical trials in process, likeadministering Albuterol(beta adrenergic receptor agonist drug thatincreases strength and muscle mass) also, they want to treat withUtrophin (sometimes can be substituted for dystrophin) Embryonic stem cell transplantsis another treatment they arelooking into.It is hoped that injecting healthy, nonspecializedstem cells into DMD victims will cause thestem cells to specialize and producestructurally and functionally correctdystrophin.   If dystrophin can be produced, it may slowthe progression of the disease, orcure it altogether.

  15. All in all, what really killsthe people affected by DMDis thefailure of the heart muscles… (death usually occurs by age 25)

  16. Support Groups • Duchenne Muscular Dystrophy Support Group • MDA (Muscular Dystrophy Association

  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%20Dystrophy/duchennesymptoms.html http://genetics.kaiser.org/home/genetics101highlights.htm http://www.nlm.nih.gov/medlineplus/ency/imagepages/19097.htm