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Early diagnosis of Duchenne muscular dystrophy is essential to improve long term outcomes
  1. Ros Quinlivan
  1. Correspondence to Dr Ros Quinlivan, MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Dubowitz Neuomuscular Centre, Great Ormond Street Hospital, London WC1; r.quinlivan{at}

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In this issue, van Reiten et al1 demonstrate significant delays in the diagnosis of Duchenne muscular dystrophy (DMD), which may have a significant impact on clinical management. They argue that screening for DMD should be part of the routine 2-year developmental check.1 DMD is the most common and one of the most devastating disorders of skeletal muscle. Without treatment, the condition has a rapidly progressive course resulting in the loss of ambulation in the first decade and death in the late teens. In recent years, improvement in management has led to substantial improvements in life expectancy. From 1960 onwards, the development of specialist multi-disciplinary clinics improved mean life expectancy from 14 to 18 years. This was probably due to physical therapies for reducing contractures delaying the loss of ambulation, since the age at which ambulation is lost appears to correlate with long term life expectancy. The introduction of nocturnal non-invasive home ventilation (NIV) in the …

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  • Competing interests None.

  • Provenance and peer review Commissioned; internally peer reviewed.

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