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Pompe disease — SCE Neurology MCQ

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ModerateNeuromuscularPompe diseaseSCE Neurology

A 18-year-old man presented with limb-girdle weakness with exertional dyspnoea and sleep hypoventilation. On examination, there was scapular winging and reduced forced vital capacity supine. Initial investigations showed: acid alpha-glucosidase activity was low. What is the most likely diagnosis?

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Correct answer: B — Pompe disease

Pompe disease is the best answer because the vignette describes Pompe disease: proximal myopathy plus respiratory involvement suggests late-onset Pompe disease. Vasculitic neuropathy is plausible in a neighbouring presentation, but the chronology, examination or investigation pattern does not match the key discriminator here. Becker muscular dystrophy and Polymyositis are less appropriate because they would require different localisation, timing or test findings; Statin-associated necrotising autoimmune myopathy would fit a different syndrome. Clinical pearl: MND would have UMN signs and denervation rather than enzyme deficiency.

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