阵发性运动障碍。

Q1 Medicine
Abhimanyu Mahajan
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引用次数: 0

摘要

目的:本文综述了目前对阵发性运动障碍的认识,包括临床特征、病理生理、评估、遗传学和治疗。它还讨论了这些疾病与癫痫的有趣重叠。最新进展:在阵发性运动障碍中,传统的基因型-表型相关性得到了扩展。单一基因型可能表现为多种临床表现,不同的基因变异可能表现为相似的表型。除了通过仔细的病史和检查来识别临床表现外,治疗阵发性运动障碍患者的方法越来越多地包括用于治疗和预后的基因检测。要点:阵发性运动障碍的范围继续扩大。及时准确地识别呈现综合征可以导致有效的治疗和症状缓解。必须认识到阵发性运动障碍的继发原因。对共享的分子机制和遗传学的更深入了解可能有助于在未来更好地定制治疗策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Paroxysmal Movement Disorders.

Objective: This article summarizes the current understanding of paroxysmal movement disorders, including clinical features, pathophysiology, assessment, genetics, and treatment. It additionally discusses the intriguing overlap of these disorders with epilepsy.

Latest developments: There is an expansion of the traditional genotype-phenotype correlation among paroxysmal movement disorders. A single genotype may present with many clinical presentations, and different genetic variations may present with a similar phenotype. In addition to recognizing the clinical presentation through careful history and examination, the approach to patients with paroxysmal movement disorders increasingly includes genetic testing for treatment and prognostication.

Essential points: The spectrum of paroxysmal movement disorders continues to expand. Prompt and accurate recognition of the presenting syndrome can lead to effective treatment and symptomatic relief. It is imperative to recognize secondary causes of paroxysmal movement disorders. A greater understanding of shared molecular mechanisms and genetics may help to better tailor therapeutic strategies in the future.

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来源期刊
CiteScore
5.80
自引率
0.00%
发文量
175
期刊介绍: Continue your professional development on your own schedule with Continuum: Lifelong Learning in Neurology®, the American Academy of Neurology" self-study continuing medical education publication. Six times a year you"ll learn from neurology"s experts in a convenient format for home or office. Each issue includes diagnostic and treatment outlines, clinical case studies, a topic-relevant ethics case, detailed patient management problem, and a multiple-choice self-assessment examination.
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