Журнал исследований костей
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Dystrophinopathy

Aakshi Kainthola

Early-onset Duchenne muscular dystrophy (DMD) is characterised by delays in motor milestones such as walking independently and rising up from a supine position. A waddling stride and difficulties ascending stairs, sprinting, jumping, and rising up from a crouching position are all symptoms of proximal weakness. DMD progresses quickly, and by the age of 12, afflicted children are wheelchair-bound. After the age of 18, approximately everyone with DMD develops cardiomyopathy. Respiratory problems and worsening cardiomyopathy are frequent causes of mortality in people in their third decade.