2 The condition

2 The condition

2.1 Duchenne muscular dystrophy (DMD) is a severe, progressive X‑linked recessive disorder that mainly affects males. DMD with a nonsense mutation is caused by a single base variation in a person's DNA, which leads to incomplete dystrophin production in the skeletal, smooth and cardiac muscle fibres. Dystrophin production is usually affected from birth and symptoms of DMD appear by age 3 years. The main symptom of DMD is motor dysfunction but, as the disease progresses, the gastrointestinal tract and vital organs such as the heart are affected. People with DMD have a decline in physical functioning, with subsequent respiratory and cardiac failure that leads to death, usually before age 30 years.

2.2 Current management of DMD includes treatment with corticosteroids, which is associated with delay in loss of walking but significant adverse effects. Other interventions include cardiac and respiratory monitoring and support, occasional inpatient orthopaedic intervention, spinal surgery and rehabilitation. In addition, dietetic advice (and, in some cases, gastric feeding), prevention and treatment of bone fragility, management of the complications of long-term corticosteroid therapy and psychosocial support may be needed. Clinical care is provided by a range of healthcare professionals depending on local services, including neurologists or paediatric neurologists/neuromuscular specialists, rehabilitation specialists, neurogeneticists, paediatricians and primary care physicians.