Neurology · UKMLA & AKT
Myotonic 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
- 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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