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Myotonic dystrophy type 1 — SCE Neurology MCQ

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HardNeuromuscularMyotonic dystrophy type 1SCE Neurology

A 31-year-old woman presented with distal weakness, grip myotonia, cataracts and daytime sleepiness. On examination, there was temporal wasting and percussion myotonia. Initial investigations showed: ECG showed first-degree heart block; DMPK CTG expansion was detected. What is the most appropriate management?

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Correct answer: B — Disease-specific immunotherapy or supportive respiratory monitoring

Disease-specific immunotherapy or supportive respiratory monitoring is the best answer because the vignette describes Myotonic dystrophy type 1: myotonia with multisystem features indicates myotonic dystrophy type 1. Empirical intravenous ceftriaxone after blood cultures is plausible in a neighbouring presentation, but the chronology, examination or investigation pattern does not match the key discriminator here. Clear explanation and referral for psychological therapy and Start disease-specific immunotherapy under neurology supervision are less appropriate because they would require different localisation, timing or test findings; High-dose glucocorticoids with urgent visual protection would fit a different syndrome. Clinical pearl: channel myotonia lacks cataracts and conduction disease.

Reference: NICE NG42; ABN myasthenia gravis guidance; EAN/PNS GBS-CIDP guidance