Neurology · UKMLA & AKT
Duchenne muscular dystrophy
A free high-yield preview for the UKMLA Applied Knowledge Test. Below are the key points to recognise duchenne muscular dystrophy — the full SA Note notes add investigations, management, complications and 10 practice questions.
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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