Latorre Anna, Ganos Christos, Hamada Masashi, Phielipp Nicolas, Rocchi Lorenzo, Merchant Shabbir, Tijssen Marina A, van der Veen Sterre, Chen Robert
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Movement Disorder Clinic, Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, University of Toronto, Toronto Western Hospital, Toronto, Ontario, Canada.
Mov Disord Clin Pract. 2025 Mar;12(3):272-284. doi: 10.1002/mdc3.14306. Epub 2024 Dec 18.
Myoclonus and other jerky movement disorders are hyperkinetic disorders, the diagnosis of which heavily relies on clinical neurophysiological testing. However, formal diagnostic criteria are lacking, and recently the utility and reliability of these tests have been questioned.
The aim of this review was to assess the utilization of clinical neurophysiology testing to identify possible gaps and boundaries that might guide the development of new methods for a more precise diagnosis and in-depth understanding of myoclonus.
We reviewed electrophysiological features of cortical myoclonus, subcortical myoclonus (ie, myoclonus associated with dystonia, brainstem myoclonus), excessive startle reflex, spinal myoclonus (ie, spinal segmental and propriospinal myoclonus), peripheral myoclonus and mimics of myoclonus of peripheral origin (hemifacial spasm, minipolymyoclonus, myokymia), functional jerky movements, chorea, and tics.
Electrophysiological features that support the recognition of myoclonus subtypes, such as muscle burst duration, muscle pattern of activation, measures of cortical excitability, or movement-related cortical potentials, have been identified. These significantly contribute to the diagnosis of jerky movement disorders, but their reliability is uncertain. Despite the significant advancements, several unresolved questions persist. Factors contributing to this include the absence of systematic neurophysiological assessment and standardized methods, alongside the limited number of patients investigated using these techniques.
Although clinical neurophysiology remains the "gold standard" for defining and diagnosing myoclonus, our review highlighted the need to enhance the quality and reliability of neurophysiological testing in jerky movement disorders. Further studies including larger cohorts of patients recruited from different centers, employing standardized and optimized electrophysiological techniques, are warranted.
肌阵挛和其他抽搐性运动障碍属于运动亢进性疾病，其诊断在很大程度上依赖于临床神经生理学检测。然而，目前缺乏正式的诊断标准，并且最近这些检测的效用和可靠性受到了质疑。
本综述的目的是评估临床神经生理学检测的应用情况，以确定可能指导开发更精确诊断和深入理解肌阵挛的新方法的差距和界限。
我们回顾了皮质性肌阵挛、皮质下肌阵挛（即与肌张力障碍相关的肌阵挛、脑干肌阵挛）、惊吓反射亢进、脊髓性肌阵挛（即脊髓节段性和脊髓固有性肌阵挛）、周围性肌阵挛以及周围性起源的肌阵挛模仿症（半面痉挛、微小多肌阵挛、肌束震颤）、功能性抽搐运动、舞蹈症和抽动症的电生理特征。
已经确定了支持识别肌阵挛亚型的电生理特征，如肌肉爆发持续时间、肌肉激活模式、皮质兴奋性测量或与运动相关的皮质电位。这些特征对抽搐性运动障碍的诊断有显著贡献，但其可靠性尚不确定。尽管取得了重大进展，但仍有几个未解决的问题。造成这种情况的因素包括缺乏系统的神经生理学评估和标准化方法，以及使用这些技术研究的患者数量有限。
尽管临床神经生理学仍然是定义和诊断肌阵挛的“金标准”，但我们综述强调了提高抽搐性运动障碍神经生理学检测质量和可靠性的必要性。有必要进行进一步的研究，包括从不同中心招募更大规模的患者队列，采用标准化和优化的电生理技术。
