Salles Philippe A, Terán-Jimenez Mérida, Vidal-Santoro Alvaro, Chaná-Cuevas Pedro, Kauffman Marcelo, Espay Alberto J
Center for the Study of Movement Disorders (CETRAM) (PAS, MT-J, PC-C), Santiago de Chile University, Santiago, Chile; Movement Disorders Section (PAS, MT-J), Neuroscience Department, Davila Clinic, Santiago, Chile; Movement Disorders Section (MT-J), Neurology Department, Felix Bulnes Hospital, Mayor University, Santiago, Chile; Neurology Department (AV-S), Fuérza Aérea de Chile Hospital, Mayor University, Santiago, Chile; Neurogenetics Unit (MK), Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J.M. Ramos Mejia". Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina; Department of Neurology (AJE); and UC Gardner Neuroscience Institute and Gardner Family Center for Parkinson's Disease and Movement Disorders (AZ, AJE), University of Cincinnati, OH.
Neurol Clin Pract. 2021 Dec;11(6):e876-e884. doi: 10.1212/CPJ.0000000000001125.
Dopa-responsive dystonia (DRD) encompasses a group of phenotypically and genetically heterogeneous neurochemical disorders. Classic GTP cyclohydrolase 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, -associated DRD may include features inconsistent with the original phenotype. We describe a -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.
-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 variants have been found to be associated with Parkinson disease. Clinicians should be aware of atypical DRD, DRD-plus, and DRD mimics.
多巴反应性肌张力障碍（DRD）涵盖一组表型和遗传异质性的神经化学疾病。经典的与GTP环化水解酶1（GCH1）相关的DRD表现为早发性下肢不对称性肌张力障碍，具有睡眠改善、日变化以及对低剂量左旋多巴有良好且持续的反应。
与经典表型不同，与GCH1相关的DRD可能包括与原始表型不一致的特征。我们描述了一例与GCH1相关的迟发性DRD病例，该患者有帕金森病和颈部肌张力障碍家族史，其对左旋多巴反应不佳且伴有运动障碍、眼睑痉挛和严重的非运动症状。我们以该病例为切入点，对非典型DRD、DRD叠加型及DRD模仿症的范围进行综述。
与GCH1相关的肌张力障碍可能在家族内表现出广泛的表型变异性，无日波动，对左旋多巴反应不佳，并伴有运动障碍、癫痫、睡眠障碍、自主神经功能障碍、动眼危象、肌阵挛或抽动等并发症。最近，已发现罕见的GCH1变异与帕金森病有关。临床医生应了解非典型DRD、DRD叠加型及DRD模仿症。
