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Motor neurone disease — SCE Neurology MCQ

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ModerateNeuromuscularMotor neurone diseaseSCE Neurology

A 31-year-old man presented with progressive hand weakness with fasciculations and spastic dysarthria. On examination, there were brisk jaw jerk, tongue fasciculations and wasting of intrinsic hand muscles. Initial investigations showed: EMG showed widespread active and chronic denervation with normal sensory studies. What is the most likely diagnosis?

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Correct answer: D — Motor neurone disease

Motor neurone disease is the best answer because the vignette describes Motor neurone disease: combined upper and lower motor neurone signs with normal sensory NCS support MND. Oculopharyngeal muscular dystrophy is plausible in a neighbouring presentation, but the chronology, examination or investigation pattern does not match the key discriminator here. Duchenne muscular dystrophy and Critical illness neuropathy are less appropriate because they would require different localisation, timing or test findings; Spinal muscular atrophy type 3 would fit a different syndrome. Clinical pearl: multifocal motor neuropathy lacks upper motor neurone signs.

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