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[一名患者表现为非典型阵发性运动诱发性舞蹈手足徐动症和贝克型肌营养不良症]

[A patient presented with atypical paroxysmal kinesigenic choreoathetosis and Becker muscular dystrophy].

作者信息

Fukada K, Moriya M, Kaido M, Abe K, Umi M, Yanagihara T

机构信息

Department of Neurology, Osaka University Graduate School of Medicine.

出版信息

Rinsho Shinkeigaku. 2000 Feb;40(2):174-7.

PMID:10835941
Abstract

A 22-year-old man had choreatic movements in upper limbs, neck and trunk for over twelve years which were associated with dystonia in lower limbs upon initiating voluntary movements. The choreatic movement lasted for a few seconds and the dystonia lasted for a few minutes. He also had high serum CK levels and hypertrophic calf muscles. His muscle strength and deep tendon reflexes were normal. His choreatic movements fulfill the criteria for paroxysmal kinesigenic choreoathetosis (PKC). However, it was unclear what the symptom of dystonia was due to. From a muscle biopsy and DNA analysis, he was diagnosed as having Becker muscular dystrophy. Administration of anticonvulsant improved the dystonia as well as the choreatic movement, which showed that the dystonia was a symptom of PKC. Coincidence of choreatic movements and dystonias which had different lasting time in a patient of PKC was atypical and had not previously reported.

摘要

一名22岁男性,上肢、颈部和躯干出现舞蹈样动作超过12年,在开始自主运动时伴有下肢肌张力障碍。舞蹈样动作持续数秒,肌张力障碍持续数分钟。他还伴有血清肌酸激酶水平升高和小腿肌肉肥大。其肌力和腱反射正常。他的舞蹈样动作符合发作性运动诱发性舞蹈手足徐动症(PKC)的标准。然而,尚不清楚肌张力障碍症状的病因。通过肌肉活检和DNA分析,他被诊断为贝克尔型肌营养不良症。给予抗惊厥药物后,肌张力障碍和舞蹈样动作均得到改善,这表明肌张力障碍是PKC的一种症状。PKC患者中舞蹈样动作和肌张力障碍持续时间不同的情况并不典型,此前未见报道。

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