Neurology · UKMLA & AKT
Duchenne muscular dystrophy
A free high-yield preview for the UKMLA Applied Knowledge Test, covering how to recognise this condition. The full SA Note notes add investigations, management and complications, with practice questions on this topic.
Key high-yield points
- Most common and most severe inherited muscular dystrophy in childhood - X-linked recessive
- Caused by mutations in the DMD gene (chromosome Xp21) - most commonly large exon deletions (~65-70%)
- Disruption of reading frame → absent dystrophin → sarcolemmal fragility → myocyte necrosis → fibrofatty replacement
- Incidence ~1 in 3,500-5,000 live male births; ~one-third are de novo mutations (negative family history does not exclude)
- Becker MD - in-frame mutations → truncated but partially functional dystrophin → milder course
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