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Muscular Dystrophy

Peds MD Lecture

QuestionAnswer
Definition of MD Group of genetic neuromuscular disorders which involve motor neuron (anterior horn/peripheral nerve), neuromuscular junction, & muscle; Primarily genetic from Mom; 30% can be 1st generation mutation
What causes progressive loss of muscle contractility? Destruction of Myofibrils
Absence or diminished production of what protein that helps keep muscle intact? Dystrophin
Duchenne 1-4 yo; Rapid progression; Loss of gait by 90-10; Death in late teens; X-linked; Most common in US; Deficit of dystrophin
Becker 5-10 yo; Slow progression; Gait to early teens; Lifespan into 30s; X-linked
Limb-Girdle More pronounced in adulthood; Proximal wkness
Conegnital Onset at birth; Variable progression; Shortened lifespan; Recessive
Facioscapulohumeral Onset first decade; Slow progressing; Loss of gait later in life; Variable life expectancy
Myotonic Onset birth; Slow progression with loss of gait later in life; Significant intellectual impairment; Dominant
Emery-Dreifus Onset childhood to early teens; Slow progression with cardiac abnormality; Normal lifespan; X-linked; Rare
Oculopharyngeal Onset 40-50; Wkness of eyelids & throat, facial & limb mm later; Swallowing & keeping eyes open are difficult
Distal Childhood to adulthood; Affects distal mm of lower arms, hands, lower legs & feet; Progressive mm wasting; Not life-threatening
Duchenne typically dx'd by? 4 or 5 but parent concern prior to that age
Dx of Duchenne Mm biopsy; Elevated level of creatine kinase in blood; DNA testing
Symptoms of Duchenne Generalized proximal wkness; Enlarge calves (pseudohypertrophy); Delayed motor skills (ambulation); Frequent falls; Difficulty getting off floor; (+) Gowers sign
Complication- Contractures Start in feet, move to hips & L-spine; Hamstrings once they start sitting more
Complication- Gait Increased side to side sway
Complication- Decreased mobility& Hard to move; Weight becomes issue with increased age
Other complications Spinal curvature; Decreased respiratory fxn; Obesity/malnutrition
Dx Progression Voluntary to Involuntary mm (includes heart & respiratory mm)
Typical Progression Loss of fxnal ambulation by 9-10; WC by 12; Vent dependent in late teens; Life expectancy depends on progression
PT Eval Hx/MD notes; Parent assessment; ROM/strength; Posture; Gait; Fxnal mobility; Balance; Motor milestone attainment
PT Intervention- Educate family & pt Stretching, strengthening, equipment needs, planning for progression; Integrating "normal"
Treatment areas for concern LE: heel cord length, pelvic posture, quad & psoas contractures, IT band; Trunk: abs, intercostals, lumbar extensors, flexors & rotators
Gait: addressing toe walking Splint/night splints; Tight gastroc/soleus increases ankle sprain risk leading to gait loss; Increased lumbar lordosis to compensate poor balance; Scoliosis common (affects respiration)
Treatment Activities kids enjoy; Be safe & know limitations; Teach parents activities to do at home; Sensory activities as abilities decline; Measure disease progression; Teach compensatory techniques
Transfers Posture; Safety; Allow person being transferred to help as much as possible; Slide boards/discs; Gait belts; Hoyer/track lifts
Sensory Integration Diminishing mvmt & sensory input; Need mvmt opportunities & neurological input
Sensory Integration Weighted blankets; Therapy balls; Massage; Joint approximation; Compression; Aquatics; Isometric mm contractions; Body awareness; Swinging; Burrito; Percussion; Chewing/sucking; Massage; Vibration
Respiratory Ex's Diaphragm breathing; Intercostals; Upper rib cage; Manual assistance; Mechanical ex's latera (cough assist, active breathing cycle, autogenic drainage)
ROM- how often to stretch? Daily
Splinting Resting, Night; AFO's for gait; Serial casting; No intervention; Orthotics; Ankle supports
AD's/Equipment Provide WB opportunities to decrease fx; Falls; Standers; Adaptive tricycles; W/C; Xfer board; Hoyer/track lift; Bedside commode; Bath aids
Pharmacological Intervention Steroids (prednisone, deflazicort); Respiratory meds; Pain mgmt; Vitamins (coQ10)
SMA- Type I (Acute Childhood) Wkness at birth in anti-gravity positions, cranial nn can be involved; Limited fetal mvmt; Respiratory care & positioning primary concerns; Can't sit independently; Feeding issues; Life expectancy: months->few years
SMA- Type II (Chronic Childhood) Wkness within first year; Most never walk; Respiratory issues, mobility & positioning primary concerns; Can live into early adulthood
SMA- Type III (Juvenile Onset) First decade onset; Calf pseudohypertophy; Do gait but if sx noted by age 2, most likely use scooter/WC for primary mobility during school age; Vocational planning; Live into adulthood
Other Compounding Factors Brain development- seizures, progressive decreasing cognitions (not decreasing, just not developing); Herat problems; Pulmonary fxn
Helping prepare parents for _____ is important but so is what? change; So is acceptance of child for who they are now
Created by: 1190550002