Maas Roderick P P W M, Wassenberg Tessa, Lin Jean-Pierre, van de Warrenburg Bart P C, Willemsen Michèl A A P
From the Department of Neurology (R.P.P.W.M.M., T.W., B.P.C.v.d.W.), Donders Institute for Brain, Cognition, and Behaviour (R.P.P.W.M.M., T.W., B.P.C.v.d.W., M.A.A.P.W.), and Department of Pediatric Neurology (M.A.A.P.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Complex Motor Disorders Service (J.-P.L.), Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
Neurology. 2017 May 9;88(19):1865-1871. doi: 10.1212/WNL.0000000000003897. Epub 2017 Apr 7.
"Every child exhibiting dystonia merits an l-dopa trial, lest the potentially treatable condition of dopa-responsive dystonia (DRD) is missed" has been a commonly cited and highly conserved adage in movement disorders literature stemming from the 1980s. We here provide a historical perspective on this statement, discuss the current diagnostic and therapeutic applications of l-dopa in everyday neurologic practice, contrast these with its approved indications, and finish with our view on both a diagnostic and therapeutic trial in children and adults with dystonia. In light of the relatively low prevalence of DRDs, the large interindividual variation in the required l-dopa dose, the uncertainty about an adequate trial duration, the substantial advances in knowledge on etiology and pathophysiology of these disorders, and the availability of various state-of-the-art diagnostic tests, we think that a diagnostic l-dopa trial as a first step in the approach of early-onset dystonia (≤25 years) is outdated. Rather, in high-resource countries, we suggest to use l-dopa after biochemical corroboration of a defect in dopamine biosynthesis, in genetically confirmed DRD, or if nigrostriatal degeneration has been demonstrated by nuclear imaging in adult patients presenting with lower limb dystonia. Furthermore, our literature study on the effect of a therapeutic trial to gain symptomatic relief revealed that l-dopa has occasionally proven beneficial in several established "non-DRDs" and may therefore be considered in selected cases of dystonia due to other causes. In summary, we argue against the application of l-dopa in every patient with early-onset dystonia and support a more rational therapeutic use.
“每个出现肌张力障碍的儿童都值得进行左旋多巴试验，以免漏诊潜在可治疗的多巴反应性肌张力障碍（DRD）”，这是自20世纪80年代以来运动障碍文献中经常被引用且高度一致的格言。我们在此提供关于这一说法的历史观点，讨论左旋多巴在日常神经科实践中的当前诊断和治疗应用，将其与批准的适应症进行对比，并以我们对儿童和成人肌张力障碍诊断及治疗试验的观点作为结尾。鉴于DRD的患病率相对较低、所需左旋多巴剂量的个体差异较大、试验持续时间的不确定性、这些疾病病因和病理生理学知识的大幅进步以及各种先进诊断测试的可用性，我们认为将诊断性左旋多巴试验作为早发性肌张力障碍（≤25岁）治疗方法的第一步已经过时。相反，在资源丰富的国家，我们建议在生化证实多巴胺生物合成缺陷、基因确诊为DRD或成年下肢肌张力障碍患者经核成像证实黑质纹状体变性后使用左旋多巴。此外，我们对治疗性试验以获得症状缓解效果的文献研究表明，左旋多巴偶尔在一些已确诊的“非DRD”中被证明有益，因此在其他原因导致的肌张力障碍的特定病例中可考虑使用。总之，我们反对对每个早发性肌张力障碍患者应用左旋多巴，并支持更合理的治疗使用。
