Oculopharyngeal muscular dystrophy — SCE Neurology MCQ
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Correct answer: E — Autosomal-dominant inheritance with age-dependent expression
The best answer is “Autosomal-dominant inheritance with age-dependent expression”. Most oculopharyngeal muscular dystrophy caused by the common expanded PABPN1 allele is autosomal dominant, with late onset and variable expression; relatives should receive genetics-led counselling and testing choices. The alternatives “Autosomal-recessive inheritance with childhood penetrance”, “X-linked inheritance transmitted through carrier mothers”, “Mitochondrial inheritance through the maternal lineage”, “A sporadic disorder without familial recurrence risk” are clinically adjacent possibilities, but they do not match the defining chronology, localisation, physiology, investigation result or UK management sequence in this stem.
Reference: National Clinical Guideline for Stroke: acute care: https://www.strokeguideline.org/chapter/acute-care/