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本文引用的文献

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A case of paroxysmal kinesigenic dyskinesia which exhibited the phenotype of anxiety disorder.一例表现为焦虑症表型的发作性运动诱发性运动障碍病例。
Neuropsychiatr Dis Treat. 2017 Aug 16;13:2181-2184. doi: 10.2147/NDT.S142457. eCollection 2017.
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Paroxysmal Kinesigenic Dyskinesia.阵发性运动诱发性运动障碍
J Assoc Physicians India. 2016 Apr;64(4):77-78.
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Clinical features of paroxysmal kinesigenic dyskinesia: report of 24 cases.发作性运动诱发性运动障碍的临床特征:24 例报告。
Epilepsy Behav. 2012 Dec;25(4):695-9. doi: 10.1016/j.yebeh.2012.06.019. Epub 2012 Oct 12.
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Oxcarbazepine versus carbamazepine in the treatment of paroxysmal kinesigenic dyskinesia.奥卡西平与卡马西平治疗发作性运动诱发性运动障碍。
Int J Neurosci. 2012 Dec;122(12):719-22. doi: 10.3109/00207454.2012.715109. Epub 2012 Aug 24.
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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.外显子组测序鉴定出 PRRT2 中的截断突变,这些突变导致阵发性运动诱发性运动障碍。
Nat Genet. 2011 Nov 20;43(12):1252-5. doi: 10.1038/ng.1008.
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Sporadic paroxysmal non-kinesigenic dyskinesia: a frequently-misdiagnosed movement disorder.散发性阵发性非运动诱发性运动障碍:一种常被误诊的运动障碍。
Singapore Med J. 2007 Sep;48(9):e250-2.
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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.特发性阵发性运动诱发性运动障碍的临床评估:新的诊断标准
Neurology. 2004 Dec 28;63(12):2280-7. doi: 10.1212/01.wnl.0000147298.05983.50.
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Familial (idiopathic) paroxysmal dyskinesias: an update.家族性(特发性)阵发性运动障碍:最新进展
Semin Neurol. 2001;21(1):69-74. doi: 10.1055/s-2001-13121.
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The paroxysmal dyskinesias.阵发性运动障碍
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Paroxysmal dyskinesias: clinical features and classification.发作性运动障碍:临床特征与分类
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误诊的非典型阵发性运动诱发性运动障碍:一例报告

Misdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report.

作者信息

Pan Fen, Li Shangda, Li Haimei, Xu Yi, Huang Manli

机构信息

Department of Psychiatry, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310003, China.

The Key Laboratory of Mental Disorder's Management of Zhejiang Province, Hangzhou 310003, China.

出版信息

Neuropsychiatr Dis Treat. 2018 Jun 5;14:1433-1435. doi: 10.2147/NDT.S163646. eCollection 2018.

DOI:10.2147/NDT.S163646
PMID:29892195
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5993030/
Abstract

BACKGROUND

Paroxysmal kinesigenic dyskinesia (PKD) is characterized by sudden episodes of involuntary movements. PKD is a very rare movement disorder, and correct clinical diagnosis is often a challenge.

CASE

We present the case of a 23-year-old female with PKD. The patient showed episodes of twisting movements for 3 years. The symptoms lasted for about 5-10 minutes and subsided spontaneously. She was diagnosed as having epilepsy, and depressive and anxiety disorders successively. However, her symptoms did not alleviate after taking sodium valproate and antidepressants. Though there were no mutations in her gene, carbamazepine was used for treatment and was effective in controlling her symptoms.

CONCLUSION

The clinical features of PKD patients are not always typical; therefore, it is important to distinguish PKD from the other subtypes of paroxysmal dyskinesia and psychogenic disorders.

摘要

背景

发作性运动诱发性运动障碍(PKD)的特征是突然发作的不自主运动。PKD是一种非常罕见的运动障碍,正确的临床诊断往往具有挑战性。

病例

我们报告一例23岁患有PKD的女性病例。该患者出现扭转运动发作3年。症状持续约5 - 10分钟后自行缓解。她先后被诊断为癫痫、抑郁和焦虑症。然而,服用丙戊酸钠和抗抑郁药后她的症状并未缓解。尽管她的基因没有突变,但使用卡马西平进行治疗并有效控制了她的症状。

结论

PKD患者的临床特征并不总是典型的;因此,将PKD与其他类型的发作性运动障碍和精神性疾病区分开来很重要。