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Peds Disorder-MD

Muscular Dystrophy

Types of Muscular Dystrophy Duchenne Muscular Dystrophy, Becker, Facioscapulohumeral Dystrophy, Limb Girdle Dystrophy, Spinal Muscular Dystrophy
Duchenne MD Most common type (3 in 100,000), X-linked recessive disease (only in males), loss of muscle cells due to abnormal or lack of dystrophin protein in mm cell membrane
Duchenne clinical presentation onset 2-6 years, low/normal IQ, life expectancy - fatal by late teens, unable to walk by 8-12 yrs, severe muscle weakness
Duchenne gross motor delays first noted increased falling, reluctance to walk/run, tip-toe walking, difficulty getting up off the floor (positive gower's sign) & stairs
Duchenne Adolescence increasing disability, muscle weakness, contractures (loss of ambulation 10-12 yrs), transfers more difficult, orthopedic surgery
Duchenne - when to cease ambulation frequent falls, inability to rise from floor or climb stairs, loss of muscle strength by 50% in LE
Duchenne PT Intervention Overall focus Maintain Functional Level (conserve energy)
Duchenne energy conservation aquatic therapy, avoid resistive or maximal effort strengthening as this causes further muscle damage/injury
Duchenne prevent secondary conditions contractures/scoliosis; ROM/stretching/positioning w/orthotics, bracing for spin. Skin breakdown; sacrum/pressure relief or tile in space w/c. Cardiopulmonary compromise, teach compensatory cough techniques, ventilation strategies.
Duchenne adaptations assistive devices, w/c, powered chair
Spinal Muscular Atrohpy (SMA) autosomal recessive disease, death of neuronal cells in anterior horn cell of spinal cord,. causes overall muscle weakness & wasting. Normal intelligence.
Spinal Muscular Atrophy (SMA) life expectancy fatal progressive disease, mortality - 10yrs, much variability in symptoms, severity & types.
Spinal Muscular Atrophy PT intervention parent education (positioning, activity tolerance, pulmonary hygiene), equipment needs, manage orthopedic deformities - prevention of secondary complications
Spinal Muscular Atrophy (SMA) Developmental Delay description of a collection of signs/symptoms rather than a medical diagnosis
Spinal Muscular Atrohpy (SMA) causes/risk factors genetic disorders, brain injuries, body size, movement disorders, torticollis
Spinal Muscular Atrophy (SMA) federal definition/verification Age 3-9, noted by diagnositc testing in 1 or more areas (physical, cognitive, communication, social), requires special education or related (PT) serves - school based
Spinal Muscular Atrophy (SMA) signs of delay by 7 months very stiff or floppy muscles, reaches or uses only 1 side of body, refuses to cuddle, does not bear weight, lack of integration of innate motor behaviors
Spinal Muscular Atrophy (SMA) signs of delay by 3 years frequent falls & clumsy, drooling & unclear speech, unable to build a block tower, no pretend play, immature gait, uses only 1 side of body
Spinal Muscular Atrophy (SMA) early treatment better outcome (at home), early intervention improves the psychological & emotional well-being of both child & family, families have more realistic expectations of the needs & prognosis of the child
Created by: jklincoln



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