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Huntington's disease — SCE Neurology MCQ

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ModerateMovement DisordersHuntington's diseaseSCE Neurology

A 63-year-old woman presented with progressive chorea, irritability and executive dysfunction with affected parent. On examination, there were impersistent tongue protrusion and motor impersistence. Initial investigations showed: genetic testing showed expanded CAG repeat in HTT. What is the most likely diagnosis?

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Correct answer: E — Huntington's disease

Huntington's disease is the best answer because the vignette describes Huntington's disease: autosomal dominant chorea with cognitive-behavioural change is Huntington's disease. Myoclonus from Creutzfeldt-Jakob disease is plausible in a neighbouring presentation, but the chronology, examination or investigation pattern does not match the key discriminator here. Multiple system atrophy and Dopa-responsive dystonia are less appropriate because they would require different localisation, timing or test findings; Hemifacial spasm would fit a different syndrome. Clinical pearl: Wilson disease is important in younger patients but family pattern and HTT confirm this.

Reference: NICE NG71; Movement Disorder Society consensus criteria