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Presentation on theme: "Conditions in Occupational Therapy"— Presentation transcript:
Muscular Dystrophy (MD) Description and Definitions
One of the most prolific neuromuscular disordersAffects muscles and/or direct nervous system controlGroup of hereditary diseases that weaken the muscles, progressivelyLack or absence of structural protein dystrophin9 identified types of MD
Duchenne Muscular Dystrophy (DMD)Genetically present at birthSymptoms may not present until 3 – 4 years oldAffects only malesX-linked conditionMother passes affected gene onto sonDMD caused by absence or deficiency of dystrophinDelayed motor dev, proximal weakness, & ↑ fatigue“Valley sign” frequently present
Becker Muscular Dystrophy (BMD)Progressive muscle weaknessAffects primarily malesX-linked inherited conditionProduction of dystrophin that is partially functionalGenetically present at birthOnset of symptoms can vary widely from 2 - 40 years of ageSymptoms most often appear between 6 - 18 years of age
Becker Muscular Dystrophy (BMD), cont’dOften demo delayed ambulation, “toe walking”Muscle wasting/weakness progresses proximal to distalUsually symmetric starting in muscles of the pelvic girdle & thighsEventually to the trunk and upper extremitiesFacial muscles are not affectedSome men become wheelchair dependent in their 30s
Limb-Girdle Muscular Dystrophy (LGMD)Autosomal recessive inheritanceBoth parents carry and pass on the affected gene 10% autosomal dominant, child inherits normal gene from one parent and an affected gene from the other parentAutosomal recessive forms display more severe symptoms with a faster decline and loss of functionEqually affects males & females
Limb-Girdle Muscular Dystrophy (LGMD), cont’dDystrophin levels are normalNo associated cognitive deficitsProgression of muscle weakness is not always symmetrical1st affects the muscles of the pelvis and shoulders“Waddling “ gaitUsually slow muscle wasting Positive Gower’s sign
Myotonic Muscular Dystrophy (MMD)Teen or adult onset50% affected live beyond 50 years of ageAutosomal dominant inherited disorderAffecting both males and femalesProgression of muscle weakness is slowWeakness / wasting begins in the face, lower legs, forearms, hands, and neck“Locking up” of muscles common
Myotonic Muscular Dystrophy (MMD), cont’dAffects gastrointestinal system, vision, heart, and/or respiratory system30% die from cardiac complicationsCognitive impairments may be presentFacioscapulohumeral Muscular DystrophyAutosomal dominant inherited disorderAffects both males & femalesOnset varies, age 7 – age of 20
Facioscapulohumeral Muscular Dystrophy, cont’dEarly onset = more severe the symptoms and faster progression Initially affects facial, shoulder, & upper arm musclesWeakness begins with the facial muscles & progresses down the bodyWeakness not usually symmetricalWinged scapulaWithout cardiac complication or cognitive impairments
Emery-Dreifuss Muscular Dystrophy (EDMD)Less common form of MDX-linked recessivePrimarily affects boys by age of 10Formation of muscle contractures before any significant muscle weakness is recognizedMuscle weakness generally symmetrical on the body
No cure or specific Tx to stop progression Symptom management greatest impactPrimary Tx goal is maintenance of independence for as long as possibleRespiratory maintenanceSkin integrityOT / PT
