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What causes progressive loss of muscle contractility?
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Muscular Dystrophy
Peds MD Lecture
| Question | Answer |
|---|---|
| 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 |
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