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Paroxysmal Dyskinesias

机译:Paroxysmal Dyskinesias

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摘要

Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD), nonkinesigenic (PNKD), and exercise induced (PED). These are usually differentiated from each other based on their phenotypic and genotypic characteristics. Genetic causes of PD are continuing to be discovered. Genes found to be involved in the pathogenesis of PD include MR-1, PRRT2, SLC2A1, and KCNMA1. The differential diagnosis is broad as PDs can mimic psychogenic events, seizure, or other movement disorders. This review also includes secondary causes of PDs, which can range from infections, metabolic, structural malformations to malignancies. Treatment is usually based on the correct identification of type of PD. PKD responds well to antiepileptic medications, whereas PNKD and PED respond to avoidance of triggers and exercise, respectively. In this article, we review the classification, clinical features, genetics, differential diagnosis, and management of PD.
机译:阵发性障碍症(PD)是患者通常保留意识的高型运动障碍。阵发性诱导症可以是显着的(PKD),非核碱(PNKD)和锻炼(PED)。这些通常根据其表型和基因型特征彼此区分。继续发现PD的遗传原因。发现参与PD发病机制的基因包括MR-1,PRRT2,SLC2A1和KCNMA1。差异诊断宽,因为PD可以模仿心理活动,癫痫发作或其他运动障碍。该评价还包括PD的二次原因,其可以从感染,代谢,结构性畸形到恶性肿瘤。治疗通常基于PD的正确鉴定。 PKD对抗抗癫痫药物,而PNKD和PED分别响应避免触发器和运动。在本文中,我们审查了PD的分类,临床特征,遗传学,鉴别诊断和管理。

著录项

  • 来源
    《Seminars in pediatric neurology》 |2018年第2018期|共7页
  • 作者单位

    Department of Pediatrics Section of Neurology St. Christopher’s Hospital for Children Drexel;

    Department of Pediatrics Section of Neurology St. Christopher’s Hospital for Children Drexel;

    Department of Pediatrics Section of Neurology St. Christopher’s Hospital for Children Drexel;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 儿科学;
  • 关键词

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