Duchenne muscular dystrophy

### What you need to know 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 Box 1 ### 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 TEXT