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Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics

Philippe A. Salles, Mérida Terán-Jimenez, Alvaro Vidal-Santoro, Pedro Chaná‐Cuevas, Marcelo Kauffman, Alberto J. Espay

2021Neurology Clinical Practice16 citationsDOIOpen Access PDF

Abstract

PURPOSE OF REVIEW: )-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. RECENT FINDINGS: -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. SUMMARY: variants have been found to be associated with Parkinson disease. Clinicians should be aware of atypical DRD, DRD-plus, and DRD mimics.

Topics & Concepts

DystoniaParkinsonismLevodopaDyskinesiaNeurochemicalBlepharospasmPsychologyNeuroscienceMedicineInternal medicineDiseaseParkinson's diseaseMetabolism and Genetic DisordersGenetic Neurodegenerative DiseasesParkinson's Disease Mechanisms and Treatments
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