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Duchenne muscular dystrophy HY

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Rickettsia Rickettsii
Rickettsia Rickettsii

Duchenne muscular dystrophy

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Duchenne muscular dystrophy Clinical presentation • Onset at age 2-3 • Proximal muscle weakness (eg, Gower sign, calf pseudohypertrophy) • Dilated cardiomyopathy • Scoliosis Diagnosis • ↑ Serum creatine kinase • Genetic testing: dystrophin deletion • Muscle biopsy: fibrosis, fat, muscle degeneration Treatment • Glucocorticoids Prognosis • Wheelchair dependent by adolescence • Death at age 20-30 from respiratory/heart failure

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Duchenne muscular dystrophy HY

  • 1. Duchenne muscular dystrophy Clinical presentation • Onset at age 2-3 • Proximal muscle weakness (eg, Gower sign, calf pseudohypertrophy) • Dilated cardiomyopathy • Scoliosis Diagnosis • ↑ Serum creatine kinase • Genetic testing: dystrophin deletion • Muscle biopsy: fibrosis, fat, muscle degeneration Treatment • Glucocorticoids Prognosis • Wheelchair dependent by adolescence • Death at age 20-30 from respiratory/heart failure