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Multiple Choice

Which dystonia presents with diurnal fluctuation, begins in childhood with leg involvement and progresses to generalized dystonia, and responds to L-dopa?

This vignette points to dopa-responsive dystonia. It is a childhood-onset dystonia that begins in the legs, shows diurnal fluctuation (worse later in the day, better after sleep), and then can progress to generalized dystonia, with a striking and sustained improvement when treated with L-dopa. The diurnal pattern is a hallmark feature that helps distinguish it from other dystonias, and its responsiveness to low-dose L-dopa is typically dramatic and durable, often with minimal side effects. Other dystonias described here—blepharospasm (eyelid focal dystonia usually not starting in childhood with leg involvement), oromandibular dystonia (jaw/tacial dystonia, often adult-onset and frequently not L-dopa responsive), and hemiballismus (unilateral, often due to a vascular lesion, not L-dopa responsive)—do not fit the combination of childhood leg onset, progression, diurnal fluctuation, and strong L-dopa responsiveness.

This vignette points to dopa-responsive dystonia. It is a childhood-onset dystonia that begins in the legs, shows diurnal fluctuation (worse later in the day, better after sleep), and then can progress to generalized dystonia, with a striking and sustained improvement when treated with L-dopa. The diurnal pattern is a hallmark feature that helps distinguish it from other dystonias, and its responsiveness to low-dose L-dopa is typically dramatic and durable, often with minimal side effects. Other dystonias described here—blepharospasm (eyelid focal dystonia usually not starting in childhood with leg involvement), oromandibular dystonia (jaw/tacial dystonia, often adult-onset and frequently not L-dopa responsive), and hemiballismus (unilateral, often due to a vascular lesion, not L-dopa responsive)—do not fit the combination of childhood leg onset, progression, diurnal fluctuation, and strong L-dopa responsiveness.