Peacock Dakota J S J, Ferreira Carlos R, Horvath Gabriella, Hoffmann Georg F, Blau Nenad, Ebrahimi-Fakhari Darius
Division of Neurology, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada.
Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Mol Genet Metab. 2025 May;145(1):109084. doi: 10.1016/j.ymgme.2025.109084. Epub 2025 Mar 18.
Movement disorders are a common manifestation of inherited metabolic diseases (IMDs), categorized into hyperkinetic movement disorders, hypokinetic-rigid syndromes, ataxia, and spasticity. We reviewed and updated the list of known metabolic disorders associated with movement disorders, identifying a total of 559 IMDs. We outlined the more common and treatable causes, sorted by the dominant movement disorder phenomenology, and provided a practical clinical approach for suspected IMDs presenting with movement disorders. This work represents an updated catalog in a series of articles aimed at creating and maintaining a comprehensive list of clinical and metabolic differential diagnoses based on system involvement.
运动障碍是遗传性代谢疾病（IMD）的常见表现，可分为多动性运动障碍、运动减少-强直综合征、共济失调和痉挛。我们回顾并更新了与运动障碍相关的已知代谢疾病列表，共识别出559种IMD。我们按主要运动障碍表现形式对更常见且可治疗的病因进行了梳理，并为出现运动障碍的疑似IMD提供了实用的临床方法。这项工作是一系列文章中的一份更新目录，旨在基于系统受累情况创建并维护一份全面的临床和代谢鉴别诊断清单。
