Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics

Salles, Philippe A.; Teran-Jimenez, Merida; Vidal-Santoro, Alvaro; Chana-Cuevas, Pedro; Kauffman, Marcelo; Espay, Alberto J.

Abstract

--- - Purpose of Review - 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. - Recent Findings - 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. - Summary - 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 dysfimction, 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.

Más información

Título según WOS: Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics
Título de la Revista: NEUROLOGY-CLINICAL PRACTICE
Volumen: 11
Número: 6
Editorial: LIPPINCOTT WILLIAMS & WILKINS
Fecha de publicación: 2021
Página de inicio: E876
Página final: E884
DOI:

10.1212/CPJ.0000000000001125

Notas: ISI