Term
| definition of muscular dystrophy |
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Definition
| progressive weakness and degeneration of skeletal muscles through destruction of myofibrils; genetically inherited and no cure |
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Term
| Duchenne Muscular Dystrophy (DMD) pathophysiology |
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Definition
| ABSENCE of protein dystrophin which provides mechanical stability to sarcolemma (w/o dystrophin sarcolemma is fragile and unable to withstand stress of normal muscle contraction; found in skeletal and cardiac muscle) |
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Term
| muscular dystrophy etiology |
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Definition
| x-linked disorder, mainly affects boys, onset 4-5 y/o |
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Term
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Definition
| insidious weakness (by age 4-5 will c/o dec. in ability to run or climb stairs); muscle biopsy positive for c.t. and fatty deposits where muscle tissue should be (absent/abnormal dystrophin gene); blood tests positive for elevated creatine kinase level (indication of cell death) >10x normal; pseudo-hypertrophy calf muscles; positive Gower's sign |
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Term
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Definition
| contractures (esp gastroc/soleus w/ PF contracture), postural mal-alignment ("hang out" on lig./lordosis and winging of scapula), scoliosis, dec. respiratory capacity/endurance, obesity |
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Term
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Definition
1. 2-5 y/o: signs of clumsiness
2. 4-5 y/o: difficulty running and climbing stairs
3. 5-7 y/o: PF contractures, lordotic posture, positive Gower's sign
4. 8-10 y/o: walking limited w/ inc. freq. of falls (start WC use)
5. 10-14 y/o: loss of ambulation
6. 20-30's: death secondary to cardiac or respiratory impairment |
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Term
| associated medical conditions |
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Definition
| scoliosis, cardiomyopathy, pulmonary deficits (in adolescence), cardiac and pulmonary testing must be done annually |
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Term
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Definition
1. slow down destruction of muscle
2. prednisone (steroid) to dec. inflamm |
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Term
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Definition
1. prolong child's indep. w/ assistive devices and adaptive equip. (prolong ambulation)
2. educate caregivers as child's fxn changes over time
3. slow progression of secondary cond.
4. improve QOL |
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Term
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Definition
| inc. susceptibility to injury due to absent dystrophin but moderate resistive exercises may slow muscle weakness w/o neg. effect; avoid exhaustive or maximal effort (aquatic therapy, TB) |
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Term
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Definition
| major problem and may contribute to decline in ambulation more than loss of strength; surgical muscle lengthening often needed |
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Term
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Definition
| prolonged assisted standing and walking but req. a greater amt of energy expenditure to walk so not very fxnal |
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Term
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Definition
| ABNORMAL quality/quantity of dystrophin; slower progression than DMD and more rare; life expectancy into the 40's or normal; less contractures or scoliosis; not IDed until late childhood or early adolescence; walk through teen years and may req. WC in 20's; vocational training and instruction and training for self-care |
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