d'Orsi Giuseppe, Di Claudio Maria Teresa, Soccio Assunta Anna, Palumbo Valentina, Ferro Carmela Pia, Costantino Umberto, Latino Raffaella, Fogli Danilo
Neurology Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Front Neurol. 2025 Sep 12;16:1655455. doi: 10.3389/fneur.2025.1655455. eCollection 2025.
Myoclonus-sudden, brief, involuntary muscle jerks-is a frequent and diagnostically challenging feature across neurodegenerative disorders. Unlike epileptic myoclonus, these manifestations rarely involve seizures; they often reflect extensive multisystemic pathology (cortical, subcortical, peripheral). Distinguishing neurodegenerative myoclonus from other movement disorders and pinpointing its origin is crucial for accurate diagnosis, prognosis, and tailored management. This narrative analysis explores the diverse phenomenology of myoclonus in neurodegenerative conditions, emphasizing how presentations often differ from typical epileptic myoclonus, which necessitates a nuanced diagnostic approach. We also highlight the indispensable role of video-electroencephalography (video-EEG) with polygraphy in this context.
We synthesized existing literature on myoclonus in neurodegenerative disorders, complemented by illustrative clinical vignettes. The diagnostic utility of video-EEG with polygraphy was critically examined, focusing on its capacity to integrate motor behavior analysis with concurrent EEG and electromyographic (EMG) activity.
Myoclonus in neurodegenerative conditions (e.g., dementias, basal ganglia degenerations, spinocerebellar degenerations) presents with diverse phenomenology, often differing significantly from typical epileptic myoclonus. Video-EEG/polygraphy emerged as the gold standard, enabling precise characterization (focal, multifocal, generalized, rhythmicity, triggers) and localization of origin. Its adaptable protocols are fundamental for capturing the fluctuating, context-dependent nature of myoclonus in these progressive conditions, and for distinguishing pathological cortical excitability from subcortical or spinal origins.
Video-EEG/polygraphy provides objective, real-time insights into the complex interplay of brain and muscle activity, profoundly refining our understanding of neurodegenerative myoclonus. This guides accurate differential diagnosis and informs effective patient care, proving essential for optimal patient management and prognosis in these challenging conditions.
肌阵挛——突然、短暂、不自主的肌肉抽搐——是神经退行性疾病中常见且在诊断上具有挑战性的特征。与癫痫性肌阵挛不同，这些表现很少涉及癫痫发作；它们通常反映广泛的多系统病理改变（皮质、皮质下、周围）。将神经退行性肌阵挛与其他运动障碍区分开来并确定其起源对于准确诊断、预后评估和个性化管理至关重要。本叙述性分析探讨了神经退行性疾病中肌阵挛的多样表现，强调其表现通常与典型癫痫性肌阵挛不同，这需要细致入微的诊断方法。我们还强调了在此背景下视频脑电图（video - EEG）联合多导记录的不可或缺的作用。
我们综合了关于神经退行性疾病中肌阵挛的现有文献，并辅以说明性临床病例。对视频脑电图联合多导记录的诊断效用进行了严格审查，重点关注其将运动行为分析与同步脑电图和肌电图（EMG）活动相结合的能力。
神经退行性疾病（如痴呆、基底节变性、脊髓小脑变性）中的肌阵挛表现出多样的现象学特征，通常与典型癫痫性肌阵挛有显著差异。视频脑电图/多导记录成为金标准，能够精确表征（局灶性、多灶性、全身性、节律性、触发因素）并确定起源部位。其灵活的方案对于捕捉这些进行性疾病中肌阵挛的波动、依赖背景的性质，以及区分病理性皮质兴奋性与皮质下或脊髓起源至关重要。
视频脑电图/多导记录为大脑和肌肉活动的复杂相互作用提供了客观、实时的见解，极大地完善了我们对神经退行性肌阵挛的理解。这有助于准确的鉴别诊断并为有效的患者护理提供依据，在这些具有挑战性的情况下，对优化患者管理和预后至关重要。
