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儿童阵发性运动障碍的治疗

Treatment of paroxysmal dyskinesias in children.

作者信息

Mink Jonathan W

机构信息

Department of Neurology (Child Neurology), University of Rochester Medical Center, 601 Elmwood Ave., Box 631, Rochester, NY, 14642, USA,

出版信息

Curr Treat Options Neurol. 2015 Jun;17(6):350. doi: 10.1007/s11940-015-0350-9.

Abstract

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.

摘要

发作性运动障碍是一组罕见的运动障碍,其特征是在正常或接近正常运动的基础上出现异常运动发作。这些疾病遗传学方面的最新进展有助于使分类方案更加统一并增进理解。然而,治疗方法仍然更多地基于表型而非基因型。治疗方法主要基于引发异常运动发作的因素。对于由突然运动触发发作的发作性运动诱发性运动障碍(PKD),使用针对电压敏感性钠通道的抗惊厥药(如卡马西平或苯妥英)治疗非常有效。对于发作性非运动诱发性运动障碍(PNKD),苯二氮䓬类药物对许多患者有效。PNKD发作通常由咖啡因、乙醇或睡眠剥夺诱发,改变生活方式通常会有帮助。发作性运动诱发的运动障碍(PED)对药物治疗的反应可能性较小,但生酮饮食或改良阿特金斯饮食可能有益。随着对这些疾病潜在生物学的了解越来越多,可能会出现更多的治疗方法。

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