Eberhardt Olaf, Topka Helge
Klinik für Neurologie, Klinikum Bogenhausen, Städt. Klinikum München GmbH, Englschalkinger Str. 77, 81925 München, Germany.
Brain Sci. 2017 Aug 14;7(8):103. doi: 10.3390/brainsci7080103.
Few movement disorders seem to make a straightforward approach to diagnosis and treatment more difficult and frustrating than myoclonus, due to its plethora of causes and its variable classifications. Nevertheless, in recent years, exciting advances have been made in the elucidation of the pathophysiology and genetic basis of many disorders presenting with myoclonus. Here, we provide a review of all of the important types of myoclonus encountered in pediatric and adult neurology, with an emphasis on the recent developments that have led to a deeper understanding of this intriguing phenomenon. An up-to-date list of the genetic basis of all major myoclonic disorders is presented. Randomized studies are scarce in myoclonus therapy, but helpful pragmatic approaches at diagnosis as well as treatment have been recently suggested.
很少有运动障碍比肌阵挛更难进行直接的诊断和治疗,也更令人沮丧,因为其病因众多且分类多样。然而,近年来,在阐明许多伴有肌阵挛的疾病的病理生理学和遗传基础方面取得了令人兴奋的进展。在此,我们对儿科和成人神经病学中遇到的所有重要类型的肌阵挛进行综述,重点介绍那些使我们对这一有趣现象有更深入理解的最新进展。列出了所有主要肌阵挛性疾病的最新遗传基础清单。在肌阵挛治疗方面,随机研究很少,但最近有人提出了在诊断和治疗方面实用的方法。