Jesuthasan Aaron, Magrinelli Francesca, Batla Amit, Bhatia Kailash P
Department of Neurology, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Int J Mol Sci. 2025 Jun 23;26(13):6024. doi: 10.3390/ijms26136024.
Rare genetic movement disorders usually manifest early in life with dystonia, parkinsonism, chorea, or a combination thereof. These are often associated with neurodevelopmental delay, intellectual disability, speech problems, retinal abnormalities, seizures, ataxia, spasticity, or systemic features. Due to their vast number and pheno-genotypic heterogeneity, the diagnosis of these disorders can be challenging. However, recognising their core motor phenomenology as well as clinical, laboratory, and neuroradiological clues can expedite appropriate diagnostic workup, molecular diagnosis, and adequate treatment. In this review, we outline diagnostic clues to rare movement disorders (RMDs), focusing on those that present mainly with dystonia, parkinsonism, or paroxysmal dyskinesia due to genetic causes. Additionally, we provide a decision tree approach linking clinical, genetic, and imaging testing. Finally, we highlight selected RMDs that should not be missed, as they possess established treatments that can hinder their progression, prevent irreversible or life-threatening sequelae and, in certain cases, lead to complete symptom remission.
罕见的遗传性运动障碍通常在生命早期表现为肌张力障碍、帕金森综合征、舞蹈症或它们的组合。这些常常与神经发育迟缓、智力残疾、言语问题、视网膜异常、癫痫、共济失调、痉挛或全身特征相关。由于它们数量众多且表型 - 基因型异质性，这些疾病的诊断可能具有挑战性。然而，认识到它们的核心运动现象学以及临床、实验室和神经放射学线索可以加快适当的诊断检查、分子诊断和充分治疗。在本综述中，我们概述了罕见运动障碍（RMDs）的诊断线索，重点关注那些主要由遗传原因导致的以肌张力障碍、帕金森综合征或发作性运动障碍为主的疾病。此外，我们提供了一种将临床、遗传和影像学检查联系起来的决策树方法。最后，我们强调了一些不应被漏诊的特定RMDs，因为它们有已确立的治疗方法，可以阻止其进展，预防不可逆或危及生命的后遗症，并且在某些情况下导致症状完全缓解。
