Duchenne muscular dystrophy
BMJ 2020; 368 doi: https://doi.org/10.1136/bmj.l7012 (Published 23 January 2020) Cite this as: BMJ 2020;368:l7012
- Hannah Fox, Foundation Year 31,
- Luke Millington, patient co-author,
- Indu Mahabeer, consultant community paediatrician2,
- Henriette van Ruiten, consultant in paediatric neurology and neuromuscular diseases3
- 1Severn Hospice, Shropshire, UK
- 2Sandwell & West Birmingham Hospital NHS Trust, Midlands, UK
- 3The Great North Children’s Hospital and The John Walton Muscular Dystrophy Research Centre, Newcastle, UK
- Correspondence to H Fox Hannah.fox8{at}nhs.net
What you need to know
Consider Duchenne muscular dystrophy in boys with delayed motor milestones, positive Gowers’ sign, abnormal gait, muscle pains, calf hypertrophy, unexplained elevated liver enzymes, learning difficulties, behavioural problems, or speech and language delay
Test for creatine kinase levels if you suspect any neuromuscular condition. Refer children with raised creatine kinase promptly to a neuromuscular specialist
Early diagnosis means early access to treatment, improved outcomes, and better informed family planning
Early genetic diagnosis is important, as it can enable entry into appropriate clinical trials
Where patients have breathlessness, palpitations and arrhythmias, morning headaches, and repeated chest infections or weight loss, suspect deterioration and refer for prompt specialist review
Introduction
Duchenne muscular dystrophy (DMD) is a progressive and disabling neuromuscular condition that is often diagnosed late.1 In the UK the mean age of diagnosis has remained fairly static over the past 30 years, currently around 4.3 years of age.2 On average it takes 1.6 years from first parental concern to diagnosis of DMD,2 by which time muscle function has already declined (box 1, case study). Delayed diagnosis of DMD can be devastating for patients and their families. Outcomes for people with DMD can be improved with optimum care at the earliest opportunity, and patients are now living into their fourth decades.34 Early diagnosis also enables parents to make informed decisions about family planning and can provide access to innovative treatments and clinical trials. International guidelines for diagnosis and management of DMD have been established by the DMD Care Considerations Working Group.567
Case study of a delayed diagnosis
Patient A presented with speech delay at age 2 and poor fine and gross motor skills at 2.5 years. He had been referred to several different teams for these symptoms, including physiotherapy for his poor motor skills and behavioural psychology. He initially walked at …
RETURN TO TEXTLog in
Log in using your username and password
Log in through your institution
Subscribe from £173 *
Subscribe and get access to all BMJ articles, and much more.
* For online subscription
Access this article for 1 day for:
£38 / $45 / €42 (excludes VAT)
You can download a PDF version for your personal record.