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Improving recognition of Duchenne muscular dystrophy
Duchenne muscular dystrophy is a life limiting muscle wasting disorder typically presenting with delayed or disordered motor or speech development and muscle weakness. The last decades have seen improved standards of care and new therapeutic approaches–corticosteroid treatment, nocturnal ventilation and cardiac support with significantly improved clinical outcomes and life expectancy. However, the condition (X linked, 1 in 4000) tends to be diagnosed late which has a negative impact on the potential for genetic counselling and recruitment into clinical trials. Van Ruiten and colleagues look at the ‘diagnostic process’ in 20 children diagnosed over 10 years as a useful way of investigating the cause of (and potential strategies that can reduce) diagnostic delay. The results are of interest—age at first reported symptoms 32.5 (range 8–72) months, age at first engagement with a health professional 42.9 (range 10–90) months, creatine kinase levels checked at 50.1 (14–91) months, diagnosis confirmed at 51.7 (range 16–91) months. The age at diagnosis is less than reported previously although there are significant delays in presentation and investigation following presentation. The authors advocate screening as part of the two year developmental check and promote the …
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