Presentation on theme: "Duchenne Muscular Dystrophy"— Presentation transcript:
1 Duchenne Muscular Dystrophy Michaela ShafferPeriods 1 and 2Genetic Disorders
2 Definethe 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 yearsPeople 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 *About 1 in every 3,500 boys is born with DMD* Incidence RatesAlthough 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 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 The Muscle-Fiber Membrane CauseThe Muscle-Fiber MembraneMuscles 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 properly. When one of these proteins, dystrophin, is absent, the result is Duchenne muscular dystrophy.DMD is caused by a mutation in the gene that produces an important muscle protein called dystrophin, which is not produced
9 Pseudohypertrophic Muscular Dystrophy Alternative NamesPseudohypertrophic Muscular DystrophyAbv.: MDM
10 Symptoms Early Delayed Onset Walking Later Difficulty in performing a standing jumpWaddling when walkingDifficulty standing upEnlarged CalvesLaterDifficulty getting up from a chairLoss of ability to climb stairsWide gaited walk w/ balance problems
11 More SymptomsFatigueMental retardation (possible, but does not worsen over time)Muscle weaknessBegins in legs and pelvis, also occurs less severely in the arms, neck, and other areas of the bodyDifficulty with motor skills (running, hopping, jumping)Frequent fallsRapidly worsening weaknessProgressive difficulty walking. Ability to walk may be lost by age 12By age 10, the person may need braces for walking. By age 12, most patients are confined to a wheelchair.
12 Possible Complications CardiomyopathyCongestive heart failure (rare)DeformitiesHeart arrhythmias (rare)Mental impairment (varies, usually minimal)Permanent, progressive disabilityDecreased mobilityDecreased ability to care for selfPneumonia or other respiratory infectionsRespiratory failure
13 TreatmentTreatment 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
14 Treatment Can include... physical therapy positioning aids - used to help the child sit, lie, or standbraces and splints - used to prevent deformity, promote support, or provide protectionmedicationsnutritional counselingpsychological counseling
15 TreatmentThere 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.
16 All in all, what really kills the people affected by DMD is the failure of the heart muscles… (death usually occurs by age 25)
17 Support Groups Duchenne Muscular Dystrophy Support Group MDA (Muscular Dystrophy Association