Neurology · UKMLA & AKT
Myotonic dystrophy
A free high-yield preview for the UKMLA Applied Knowledge Test. Below are the key points to recognise myotonic dystrophy — the full SA Note notes add investigations, management, complications and 10 practice questions.
Key high-yield points
- Most common adult-onset muscular dystrophy - prevalence ~1 in 8,000
- Autosomal dominant - DM1 (CTG repeat expansion in DMPK gene, chromosome 19q13) and DM2 (CCTG repeat expansion in CNBP gene)
- Anticipation - repeat expands with successive generations; earlier onset and more severe disease in offspring; most striking with maternal transmission (congenital DM1)
- Toxic RNA foci sequester MBNL1 splicing protein → aberrant splicing of multiple downstream targets → multisystem disease
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