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Treatment of Paroxysmal Dyskinesias in Children

机译:小儿阵发性运动障碍的治疗

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摘要

Paroxysmal dyskinesia represents a group of uncommon movement disorders that are characterized by episodes of abnormal movements arising from a baseline of normal or nearly normal movement. Recent advances in the genetics of these disorders have helped provide some unification of classification schemes and better understanding. However, the approach to treatment continues to be based on the phenotype more than the genotype. The treatment approach is primarily based on the factors that precipitate the episodes of abnormal movements. For paroxysmal kinesigenic dyskinesia (PKD) in which the spells are triggered by sudden movement, treatment with anticonvulsants that target voltage-sensitive sodium channels (e. g., carbamazepine or phenytoin) is highly effective. For paroxysmal nonkinesigenic dyskinesia (PNKD), treatment with benzodiazepines is effective in many patients. PNKD episodes are often precipitated by caffeine, ethanol, or sleep deprivation, and lifestyle modifications are often helpful. Paroxysmal exertion-induced dyskinesia (PED) is less likely to respond to medications, but the ketogenic diet or modified Atkins diet may provide benefit. As more knowledge is gained about the underlying biology of these disorders, additional treatments may emerge.
机译:阵发性运动障碍代表一组不常见的运动障碍,其特征在于由正常或接近正常运动的基线引起的异常运动发作。这些疾病的遗传学的最新进展已帮助提供了一些分类方案的统一和更好的理解。但是,治疗方法仍然是基于表型而不是基因型。该治疗方法主要基于导致异常运动发作的因素。对于突然运动触发咒语的阵发性人为运动障碍(PKD),用靶向电压敏感钠通道的抗惊厥药(例如卡马西平或苯妥英钠)治疗非常有效。对于阵发性非运动原性运动障碍(PNKD),苯二氮卓类药物治疗对许多患者有效。咖啡因,乙醇或睡眠不足往往会导致PNKD发作,而改变生活方式通常会有所帮助。阵发性劳累性运动障碍(PED)对药物反应的可能性较小,但生酮饮食或改良的阿特金斯饮食可能会有所帮助。随着对这些疾病潜在生物学的更多了解,可能会出现其他治疗方法。

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