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Dopa-responsive dystonia — SCE Neurology MCQ

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EasyMovement DisordersDopa-responsive dystoniaSCE Neurology

A 36-year-old man presented with childhood-onset foot dystonia worse in the evening with dramatic levodopa response. On examination, there were brisk reflexes but no sensory loss. Initial investigations showed: genetic testing showed GCH1 mutation. What is the most appropriate management?

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Correct answer: C — Levodopa-based treatment when motor symptoms impair quality of life

Levodopa-based treatment when motor symptoms impair quality of life is the best answer because the vignette describes Dopa-responsive dystonia: diurnal dystonia with levodopa response indicates dopa-responsive dystonia. Start disease-specific immunotherapy under neurology supervision is plausible in a neighbouring presentation, but the chronology, examination or investigation pattern does not match the key discriminator here. Optimise dopaminergic therapy and review motor fluctuations and Intravenous immunoglobulin with respiratory monitoring are less appropriate because they would require different localisation, timing or test findings; Intravenous aciclovir pending diagnostic confirmation would fit a different syndrome. Clinical pearl: cerebral palsy lacks marked diurnal fluctuation and levodopa response.

Reference: NICE NG71; Movement Disorder Society consensus criteria