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Peds Disorder-MD
Muscular Dystrophy
| Question | Answer |
|---|---|
| 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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