Overview
Introduction
Duchenne muscular dystrophy (DMD) is an X linked, progressive myopathy affecting approximately 1 in 3,500 to 5,000 boys.
CNPLE
CNPLE
Duchenne muscular dystrophy (DMD) is an X-linked, progressive myopathy affecting approximately 1 in 3,500 to 5,000 boys. Becker muscular dystrophy (BMD) arises from the same gene with a milder, later course. In Canada, affected children and adults are followed by paediatric and adult neuromuscular clinics, many of which contribute to the Canadian Neuromuscular Disease Registry, while the primary care nurse practitioner (NP) provides the medical home: developmental surveillance, first-line investigation, immunization, acute illness care, steroid-toxicity monitoring, emergency planning, mental health, family counselling and coordination across paediatric and adult systems. At entry-level NP depth, the priorities are: recognising the presentation early (diagnostic delay averages more than two years after first parental concern), ordering the correct first test, referring urgently, understanding the specialist treatment plan well enough to monitor it safely, preventing iatrogenic harm (anaesthesia, sedatives, oxygen without ventilation, abrupt steroid withdrawal) and identifying at-risk relatives.
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