Conditions in Occupational Therapy 5th edition Ben J Conditions in Occupational Therapy 5th edition Ben J. Atchison and Diane Powers Dirette _____________________________________________________________________ Chapter 5: Muscular Dystrophy

Muscular Dystrophy (MD) Description and Definitions One of the most prolific neuromuscular disorders Affects muscles and/or direct nervous system control Group of hereditary diseases that weaken the muscles, progressively Lack or absence of structural protein dystrophin 9 identified types of MD Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Description and Definitions, cont’d Duchenne Muscular Dystrophy (DMD) Genetically present at birth Symptoms may not present until 3 – 4 years old Affects only males X-linked condition Mother passes affected gene onto son DMD caused by absence or deficiency of dystrophin Delayed motor dev, proximal weakness, & ↑ fatigue “Valley sign” frequently present Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Description and Definitions, cont’d Duchenne Muscular Dystrophy (DMD) Most wheelchair dependent by 12 years-old May have cognitive impairments Contractures may present Affects all voluntary skeletal muscles & cardiac / pulmonary muscles Becker Muscular Dystrophy (BMD) Progressive muscle weakness Affects primarily males X-linked Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Description and Definitions, cont’d Becker Muscular Dystrophy (BMD) Progressive muscle weakness Affects primarily males X-linked inherited condition Production of dystrophin that is partially functional Genetically present at birth Onset of symptoms can vary widely from 2 - 40 years of age Symptoms most often appear between 6 - 18 years of age Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Description and Definitions, cont’d Becker Muscular Dystrophy (BMD), cont’d Often demo delayed ambulation, “toe walking” Muscle wasting/weakness progresses proximal to distal Usually symmetric starting in muscles of the pelvic girdle & thighs Eventually to the trunk and upper extremities Facial muscles are not affected Some men become wheelchair dependent in their 30s Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Description and Definitions, cont’d Limb-Girdle Muscular Dystrophy (LGMD) Autosomal recessive inheritance Both 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 parent Autosomal recessive forms display more severe symptoms with a faster decline and loss of function Equally affects males & females Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Description and Definitions, cont’d Limb-Girdle Muscular Dystrophy (LGMD), cont’d Dystrophin levels are normal No associated cognitive deficits Progression of muscle weakness is not always symmetrical 1st affects the muscles of the pelvis and shoulders “Waddling “ gait Usually slow muscle wasting Positive Gower’s sign Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Description and Definitions, cont’d Myotonic Muscular Dystrophy (MMD) Teen or adult onset 50% affected live beyond 50 years of age Autosomal dominant inherited disorder Affecting both males and females Progression of muscle weakness is slow Weakness / wasting begins in the face, lower legs, forearms, hands, and neck “Locking up” of muscles common Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Description and Definitions, cont’d Myotonic Muscular Dystrophy (MMD), cont’d Affects gastrointestinal system, vision, heart, and/or respiratory system 30% die from cardiac complications Cognitive impairments may be present Facioscapulohumeral Muscular Dystrophy Autosomal dominant inherited disorder Affects both males & females Onset varies, age 7 – age of 20 Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Description and Definitions, cont’d Facioscapulohumeral Muscular Dystrophy, cont’d Early onset = more severe the symptoms and faster progression Initially affects facial, shoulder, & upper arm muscles Weakness begins with the facial muscles & progresses down the body Weakness not usually symmetrical Winged scapula Without cardiac complication or cognitive impairments Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Description and Definitions, cont’d Emery-Dreifuss Muscular Dystrophy (EDMD) Less common form of MD X-linked recessive Primarily affects boys by age of 10 Formation of muscle contractures before any significant muscle weakness is recognized Muscle weakness generally symmetrical on the body Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Description and Definitions, cont’d Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Incidence and Prevalence Affects 1 in every 5,000 people Duchenne & Becker MD are most common types Affects all races, ages, and genders worldwide Copyright © 2017 Wolters Kluwer • All Rights Reserved

Copyright © 2017 Wolters Kluwer • All Rights Reserved MD Diagnosis 3 typical diagnostic tests Blood work for genetic testing Electromyography (EMG) Muscle biopsy Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Course and Prognosis Shortened life span for most Cardiac & respiratory complications common Progression can be slow to rapid depending on MD Dx Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Medical / Surgical Management No cure or specific Tx to stop progression Symptom management greatest impact Primary Tx goal is maintenance of independence for as long as possible Respiratory maintenance Skin integrity OT / PT Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Medical / Surgical Management, cont’d Drug Intervention (corticosteroids) Corticosteroids Immunosuppressant drugs Anticonvulsants Contracture release Spinal stabilization Pacemakers Feeding tubes Copyright © 2017 Wolters Kluwer • All Rights Reserved

MD Impact on Occupational Performance Toileting, dressing, grooming, and bathing Driving Meal preparation Daily school tasks Maintaining employment Playing with peers Copyright © 2017 Wolters Kluwer • All Rights Reserved