Neurology · UKMLA & AKT
Facioscapulohumeral 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
- Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited muscular dystrophy, with autosomal dominant inheritance and a unique genetic mechanism: aberrant DUX4 expression due to D4Z4 repeat contraction on chromosome 4q35, requiring a permissive 4qA haplotype.
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