Garris Jordan, Abbott Megan, Axeen Erika, Tochen Laura, Schreiber John M
Department of Neurology, Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.
Departments of Pediatrics and Neurology, University of Colorado, School of Medicine, Aurora, CO, USA.
Epilepsy Curr. 2025 Jun 16:15357597251323917. doi: 10.1177/15357597251323917.
Genetic epilepsies and developmental and epileptic encephalopathies are commonly associated with concomitant movement disorders, which can mimic seizures and/or create additional disability. Appropriate diagnosis is critical to proper management. A broad range of movement disorder phenomenologies occur among patients with genetic epilepsy, including dystonia, chorea, ataxia, myoclonus, stereotypy, tics, and Parkinsonism. For some genes, clear relationships exist between genotype and movement disorder phenotype, while in other situations, the relationship is more complex. Diagnosis of movement disorders involves elements of history, physical examination, video review, and neurophysiology. Assessment of associated impairment, distress, and/or safety concerns is important for considering risks/benefits of treatment. Movement disorders may range from severe and dangerous, requiring pharmacologic or neuromodulatory treatments such as deep brain stimulation, to relatively benign, with only reassurance and continued observation required. Appropriate treatments differ based on phenomenology and etiology, with some genes associated with tailored treatments which can provide dramatic benefit.
遗传性癫痫以及发育性和癫痫性脑病通常与伴随的运动障碍相关，这些运动障碍可能会模仿癫痫发作和/或造成额外的残疾。正确诊断对于恰当的治疗管理至关重要。遗传性癫痫患者中会出现广泛的运动障碍现象，包括肌张力障碍、舞蹈症、共济失调、肌阵挛、刻板动作、抽搐和帕金森症。对于某些基因，基因型与运动障碍表型之间存在明确的关系，而在其他情况下，这种关系则更为复杂。运动障碍的诊断涉及病史、体格检查、视频回顾和神经生理学等方面。评估相关的损伤、痛苦和/或安全问题对于考虑治疗的风险/益处很重要。运动障碍的范围可能从严重且危险的，需要药物或神经调节治疗（如深部脑刺激），到相对良性的，仅需安慰和持续观察。恰当的治疗因现象学和病因不同而有所差异，有些基因有针对性的治疗方法，可带来显著益处。
