Abstract
Two Chinese Australian siblings from nonconsanguineous parents presented with adolescent-onset dystonia-parkinsonism with prominent anxiety. Examination revealed eyelid, lower facial, and distal upper extremity myoclonus (Video 1), which was recorded using surface EMG (Figure 1). Compound heterozygous pathogenic variants in ATP13A2 were identified, c.3176T>G (p.L1059R) and c.3253delC (p.L1088WfsX4), confirming the diagnosis of Kufor-Rakeb syndrome (KRS).1 KRS classically presents as juvenile-onset, levodopa-responsive parkinsonism combined with pyramidal signs, upgaze palsy, cognitive decline, and, uniquely, facial-faucial-finger minimyoclonus.2 This distinctive pattern of myoclonus is a useful clue to the diagnosis in affected individuals and distinguishes it from other forms of juvenile-onset parkinsonism.
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