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This document summarizes Duchenne muscular dystrophy (DMD), the most common childhood neuromuscular disorder. It describes the clinical presentation of DMD, including delayed walking, calf pseudohypertrophy, loss of ambulation by age 9, and scoliosis. It discusses the genetic basis and diagnosis via elevated creatine kinase levels and muscle biopsy. Current treatments aim to prolong mobility but there is no cure. Gene therapy shows promise but transferring the large dystrophin gene remains a challenge.
This document summarizes Duchenne muscular dystrophy (DMD), the most common childhood neuromuscular disorder. It describes the clinical presentation of DMD, including delayed walking, calf p…