Conditions in Occupational Therapy

Conditions in Occupational Therapy - PPT

5. th. edition . Ben J. Atchison and. . Diane . Powers Dirette. . _____________________________________________________________________. Chapter 5: . Muscular Dystrophy. Muscular Dystrophy (MD) Description and Definitions. ID: 604392

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Conditions in Occupational Therapy

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Conditions in Occupational Therapy
5
th
edition
Ben J. Atchison and
Diane
Powers Dirette
_____________________________________________________________________
Chapter 5:
Muscular Dystrophy
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
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MD Description and Definitions, cont’d
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
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MD Description and Definitions, cont’d
Duchenne Muscular Dystrophy (DMD)Most wheelchair dependent by 12 years-oldMay have cognitive impairmentsContractures may presentAffects all voluntary skeletal muscles & cardiac / pulmonary musclesBecker Muscular Dystrophy (BMD)Progressive muscle weaknessAffects primarily malesX-linked
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MD Description and Definitions, cont’d
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
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MD Description and Definitions, cont’d
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
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MD Description and Definitions, cont’d
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
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MD Description and Definitions, cont’d
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
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MD Description and Definitions, cont’d
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
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MD Description and Definitions, cont’d
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
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MD Description and Definitions, cont’d
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
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MD Description and Definitions, cont’d
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
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MD Description and Definitions, cont’d
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MD Incidence and Prevalence
Affects 1 in every 5,000 peopleDuchenne & Becker MD are most common typesAffects all races, ages, and genders worldwide
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MD Diagnosis
3 typical diagnostic testsBlood work for genetic testingElectromyography (EMG)Muscle biopsy
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MD Course and Prognosis
Shortened life span for most Cardiac & respiratory complications commonProgression can be slow to rapid depending on MD Dx
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MD Medical / Surgical Management
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
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MD Medical / Surgical Management, cont’d
Drug Intervention (corticosteroids)CorticosteroidsImmunosuppressant drugsAnticonvulsantsContracture releaseSpinal stabilizationPacemakersFeeding tubes
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MD Impact on Occupational Performance
Toileting, dressing, grooming, and bathingDrivingMeal preparationDaily school tasksMaintaining employmentPlaying with peers
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