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- W3186253698 endingPage "10.1212/CPJ.0000000000001125" @default.
- W3186253698 startingPage "10.1212/CPJ.0000000000001125" @default.
- W3186253698 abstract "Dopa-responsive dystonia (DRD) encompasses a group of phenotypically and genetically heterogeneous neurochemical disorders. Classic GTP cyclohydrolase 1 (GCH-1)-associated DRD consists of early-onset lower limb asymmetrical dystonia, with sleep benefit, diurnal variation, and excellent and sustained response to low l-dopa doses.Unlike the classic phenotype, GCH-1-associated DRD may include features inconsistent with the original phenotype. We describe a GCH-1-associated late-onset DRD case with a family history of parkinsonism and cervical dystonia whose response to levodopa was poor and complicated with dyskinesia, blepharospasm, and severe nonmotor symptoms. We use this case as a springboard to review the spectrum of atypical DRD, DRD-plus, and DRD mimics.GCH-1-related dystonia may exhibit wide intrafamilial phenotypic variability, no diurnal fluctuation, poor response to l-dopa, and such complications as dyskinesia, epilepsy, sleep disorders, autonomic dysfunction, oculogyric crisis, myoclonus, or tics. More recently, rare GCH-1 variants have been found to be associated with Parkinson disease. Clinicians should be aware of atypical DRD, DRD-plus, and DRD mimics." @default.
- W3186253698 created "2021-08-02" @default.
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- W3186253698 date "2021-07-16" @default.
- W3186253698 modified "2023-09-26" @default.
- W3186253698 title "Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics" @default.
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- W3186253698 doi "https://doi.org/10.1212/cpj.0000000000001125" @default.
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