發作性運動誘發性運動障礙臨床分析_West China Medical Journal

Authors：

 涂良丹

四川大學華西醫院神經內科（成都，610041）;

Corresponding?author：

Keywords：

發作性運動誘發性運動障礙; 臨床特征; 鑒別診斷; 治療

DOI：

10.7507/1002-0179.20140433

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目的提高對發作性運動誘發性運動障礙（PKD）疾病的認識。方法對2011年1月－2013年12月收治的11例患者的臨床資料進行回顧分析,總結PKD的臨床特征和治療方法。結果 11例患者經卡馬西平、托吡酯等藥物治療，病情均得以控制。9例患者經半年至3年隨訪，5例能堅持每日正規按時服藥，癥狀無發作或偶有發作且輕微；3例患者間斷服藥，癥狀時有發作，發作后服藥最初劑量同樣能控制癥狀；1例24歲患者服用近1年后未繼續服藥，癥狀未再發作或偶有發作先兆，但能自行控制癥狀。結論 PKD為一種少見的神經系統發作性疾病，應提高對該疾病的認識，注意同其他發作性疾病的鑒別，選擇合適的抗癲癇藥物治療，一般預后良好。

Citation： 涂良丹. 發作性運動誘發性運動障礙臨床分析. West China Medical Journal, 2014, 29(8): 1410-1412. doi: 10.7507/1002-0179.20140433 Copy

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11.	呂玉丹, 崔俐, 孟紅梅, 等. 12例發作性運動誘發性肌張力障礙的臨床、腦電圖特點及文獻復習[J]. 中風與神經疾病雜志, 2011, 28(10):920-922.
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14.	Mir P, Huang YZ, Gilio F, et al. Abnormal cortical and spinal inhibition in paroxysmal kinesigenic dyskinesia[J]. Brain, 2005, 128(pt2):291-299.
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16.	周銓, 黃志民, 章成國, 等. 發作性運動障礙臨床特征及誤診分析[J]. 廣東醫學, 2012, 33(12):1776-1779.
17.	黃穎, 張青山, 姜可. 發作性運動誘發性肌張力障礙的臨床特點及治療[J]. 中國臨床實用醫學, 2010, 4(10):177-178.

1. Bruno MK, Hallett M, Gwinn Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia:new diagnostic criteria[J]. Neurology, 2004, 63(12):2280-2287.
2. Demirkiran M, Jankovic J. Paroxysmal dyskinesias:clinical featues and classfication[J]. Ann Neuro, 1995, 38(4):571-579.
3. Tomita Ha, Nagamitsu S, Wakui K, et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome16p11.2-q12.1[J]. Am J Hum Genet, 1999, 65(6):1688-1697.
4. Bennett LB, Roach ES, Bowcock AM. A locus for paroxysmal kinesigenic dyskinesia maps to human chromsome16[J]. Neurology, 2000, 54(1):125-130.
5. Valente EM, Spacey SD, Wali GM, et al. A second paroxysmal kinesigenic dyskinesia locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromsome16[J]. Brain, 2000, 123(Pt10):2040-2045.
6. Spacey SD, Valente EM, Wali GM, et al. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia:evidence for a third EKD gene[J]. Mov Disord, 2002, 17(4):717-725.
7. 丁靜, 逢錦晶, 李銀柱, 等. 發作性運動誘發性運動障礙九例臨床特點分析[J]. 中華醫學雜志, 2013, 93(37):3000-3001.
8. 粟艷芳, 陳國洪, 楊志曉. 發作性運動誘發性運動障礙研究進展[J]. 中華實用兒科臨床雜志, 2013, 28(18):1427-1429.
9. Ohmori I, Ohtsuka Y, Yoshinaga H, et al. The relationship between paroxysmal kinesigenic choreoathetosis and epilepsy[J]. Neuropediatrics, 2002, 35(1):15-20.
10. 黃元桂. 發作性運動誘發性運動障礙患者的腦電圖改變[J]. 臨床神經電生理學雜志, 2004, 13(1):5-7.
11. 呂玉丹, 崔俐, 孟紅梅, 等. 12例發作性運動誘發性肌張力障礙的臨床、腦電圖特點及文獻復習[J]. 中風與神經疾病雜志, 2011, 28(10):920-922.
12. Joo EY, Hong SB, Tae WS, et al. Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis[J]. Eur J Nucl Med Mol Imaging, 2005, 32(10):1205-1209.
13. Zhou B, Chen Q, Gong Q, et al. The thalamic ultrastructural abnormalities in paroxysmal kinesigenic choreoathetosis:a diffusion tensor imaging study[J]. J Neurol, 2010, 257(3):405-409.
14. Mir P, Huang YZ, Gilio F, et al. Abnormal cortical and spinal inhibition in paroxysmal kinesigenic dyskinesia[J]. Brain, 2005, 128(pt2):291-299.
15. Bhatia KP. Paroxysmal dyskinesias[J]. Mov Disord, 2011, 26(3):1157-1165.
16. 周銓, 黃志民, 章成國, 等. 發作性運動障礙臨床特征及誤診分析[J]. 廣東醫學, 2012, 33(12):1776-1779.
17. 黃穎, 張青山, 姜可. 發作性運動誘發性肌張力障礙的臨床特點及治療[J]. 中國臨床實用醫學, 2010, 4(10):177-178.

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