Clinical features

Possible features of Duchenne's muscular dystrophy appear in the first five years of life and consist of:

• delayed walking - after 18 months
• not running by age 3
• frequent falls
• lordotic waddling gait
• difficulty in climbing stairs
• Gower's sign
• weakness is symmetrical:
  • iliopsoas, gluteal and quadriceps are affected first
  • then, pretibial muscles
  • then, pectoral and shoulder girdle
• wasting of most affected muscles
• pseudohypertrophy of the calves
• muscle pain or cramps or calf hypertrophy
• episodes of myoglobinuria (cola coloured urine)
• unexplained raised levels of lactate dehydrogenase or aminotransferases (ALT or AST)
• learning difficulties and behavioural issues
• speech and language delay
• autistic spectrum disorder

Cardiac and respiratory complications are seen, especially with disease progression, and if untreated DMD typically leads to death in the late teens (1).

Multidisciplinary care, particularly the initiation of corticosteroids and assisted ventilation supported by regular cardiac and respiratory monitoring, has led to increasing numbers of patients living into adulthood in recent years

Reference:

• Rodger S et al. Adult care for Duchenne muscular dystrophy in the UK. J Neurol. 2015; 262(3): 629–6
• Fox H et al. Duchenne muscular dystrophy. BMJ 2020;368:l7012