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音乐家肌张力障碍的表型谱:一种特定任务的障碍?

Phenotypic spectrum of musician's dystonia: a task-specific disorder?

机构信息

Section of Clinical and Molecular Neurogenetics, University of Lüebeck, Lübeck, Germany.

出版信息

Mov Disord. 2011 Feb 15;26(3):546-9. doi: 10.1002/mds.23526.

Abstract

BACKGROUND

Musician's dystonia (MD) is traditionally considered a sporadic and task-specific movement disorder.

METHODS

The phenotypic spectrum of the disorder was studied in 116 patients suffering from MD including videotaping.

RESULTS

Based on the movement disorders observed, we categorized our patients into two different groups: (i) 65 patients with isolated MD, that is only present when playing the instrument and (ii) 51 patients with MD and one or more additional features of primary dystonia independent of MD (complex MD). Patients with a positive family history of movement disorders had an increased risk to develop complex MD [odds ratio = 4.80; 95% confidence interval: 1.94-11.92; P = 0.001].

DISCUSSION

In previous studies, we recently identified 22 relatives with different types of movement disorders in the families of 28 MD patients. Taken together, our results further support a genetic contribution to MD with a broad individual and familial phenotypic spectrum consisting of MD, other dystonias and even other, non-dystonic movement disorders.

摘要

背景

音乐家的肌张力障碍(MD)传统上被认为是一种散发性和特定任务的运动障碍。

方法

对 116 名 MD 患者进行了疾病表型谱的研究,包括录像。

结果

根据观察到的运动障碍,我们将患者分为两组:(i)65 名仅在演奏乐器时出现的孤立性 MD 患者;(ii)51 名 MD 患者和一个或多个与 MD 无关的原发性肌张力障碍的附加特征(复杂 MD)。有运动障碍家族史的患者发生复杂 MD 的风险增加[比值比=4.80;95%置信区间:1.94-11.92;P=0.001]。

讨论

在以前的研究中,我们最近在 28 名 MD 患者的家族中发现了 22 名有不同类型运动障碍的亲属。综上所述,我们的研究结果进一步支持 MD 的遗传贡献,其具有广泛的个体和家族表型谱,包括 MD、其他肌张力障碍,甚至其他非肌张力障碍性运动障碍。

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