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