Luc Quyen N, Querubin Jyes
Pediatric Movement Disorders Program, Children's Hospital Los Angeles, University of Southern California, 4650 Sunset Blvd., Mailstop 82, Los Angeles, CA, USA.
Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA.
Paediatr Drugs. 2017 Oct;19(5):447-461. doi: 10.1007/s40272-017-0243-3.
Dystonia is one of the most frequent movement disorders in childhood. It can impede normal motor development and cause significant motor disability. The diagnostic evaluation of childhood dystonia is challenging due to the phenotypic variability and heterogeneous etiologies. Evidence to guide the diagnostic evaluation and treatment is limited. Assessment is primarily directed by clinical history and distinctive examination findings. Neuroimaging is typically necessary to evaluate for acquired or complex inherited dystonias. A trial of levodopa can be both diagnostic and therapeutic in children with dopa-responsive dystonia. However, for the majority of children with early-onset dystonia, treatment is symptomatic with varying efficacy. There is a paucity of therapeutic trials for childhood dystonia and most treatment recommendations are consensus or expert opinion driven. This review summarizes the available evidence and guidelines on the diagnostic evaluation and pharmacological treatment of childhood-onset dystonia and provides practical frameworks to approach both issues based on best evidence.
肌张力障碍是儿童期最常见的运动障碍之一。它会阻碍正常的运动发育并导致严重的运动残疾。由于表型变异性和病因异质性，儿童肌张力障碍的诊断评估具有挑战性。指导诊断评估和治疗的证据有限。评估主要基于临床病史和独特的检查结果。通常需要进行神经影像学检查以评估获得性或复杂遗传性肌张力障碍。左旋多巴试验对多巴反应性肌张力障碍儿童具有诊断和治疗双重作用。然而，对于大多数早发性肌张力障碍儿童，治疗仅为对症治疗，疗效各异。儿童肌张力障碍的治疗试验较少，大多数治疗建议是基于共识或专家意见。本综述总结了关于儿童期肌张力障碍诊断评估和药物治疗的现有证据和指南，并提供了基于最佳证据处理这两个问题的实用框架。
