Abstract
A 12-year-old girl presented to the emergency department for forced upward eye deviation for 2 hours with craniocervical dystonia and intact consciousness. During the half-year, she experienced several emotionally triggered attacks (Video 1). Sudden-onset dystonic gait occurred 1 month before the first attack and progressively deteriorated with subsequent attacks. All limbs showed bradykinesia and rigidity without ataxia. Normal EEG and consciousness suggested oculogyric crises rather than epilepsy. A de novo pathogenic variant in ATP1A3 (c. 2767 G > A) confirmed rapid-onset dystonia parkinsonism (Figure), which is not generally dopa-responsive.1 However, since her oculogyric crises might correlate with a hypodopaminergic state,2 levodopa was beneficial. Adding flunarizine improved her condition.
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