Rapid-onset dystonia-parkinsonism: case report

Rapid-onset dystonia-parkinsonism (RDP) is a rare autosomal dominant movement disorder with variable penetrance associated with different mutations in the Na/K-ATPase alpha3 subunit gene (ATP1A3) [1]. RDP is characterized by the abrupt onset (hours–weeks) of dystonia and parkinsonism, followed by moderate or no progression over weeks and little or no improvement thereafter, despite treatment with levodopa [2]. RDP has been described in a small number of families [2–4], but sporadic cases have also been reported [5–8]. Herein we report a case of an apparently sporadic RDP with a novel mutation in ATP1A3.

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