Neurology · UKMLA & AKT
Becker muscular dystrophy
A free high-yield preview for the UKMLA Applied Knowledge Test. Below are the key points to recognise becker muscular dystrophy — the full SA Note notes add investigations, management, complications and 10 practice questions.
Key high-yield points
- X-linked recessive neuromuscular disorder caused by mutations in the DMD gene (Xp21) - same gene as Duchenne muscular dystrophy (DMD)
- Prevalence: ~1 in 18,000 male births; 3-4x less common than DMD
- Reading frame rule distinguishes BMD from DMD: BMD = in-frame mutation → truncated but partially functional dystrophin produced; DMD = out-of-frame mutation → no functional dystrophin
- Most common mutations: large intragenic deletions (~65-70%), followed by duplications and point mutations
The in-frame vs out-of-frame distinction is the key molecular explanation for why BMD patients remain ambulatory into adulthood while DMD patients typically do not.
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