INTRODUCTION Besides cerebellar ataxia, various other movement disorders, including dystonia, could manifest as main clinical symptoms in ataxia-telangiectasia (A-T). However, the clinical characteristics of dystonic A-T patients are not clearly elucidated. METHODS To investigate the characteristics of dystonic A-T, we screened previous reports with A-T patients presenting dystonia as a main manifestation, and included 38 dystonic A-T patients from 16 previous studies and our 2 cases. We reviewed clinical and demographic data of dystonic A-T patients. Additionally, to figure out clinical meaning of cerebellar involvement in dystonic A-T, we divided them into two groups based on the presence of cerebellar involvement, and compared clinical features between two groups. RESULTS In the patients with dystonic A-T, dystonia tended to appear during childhood or adolescence and became generalized over time. Choreoathetosis and myoclonus accompanied more frequently than the typical clinical features, including cerebellar ataxia or atrophy, telangiectasia, or oculomotor apraxia. Additionally, alpha-fetoprotein level was also elevated in the patients with dystonic A-T. When we compared dystonic A-T with and without cerebellar involvement, the former was related with more chance for telangiectasia and oculomotor apraxia, while the latter with that for choreoathetosis and malignancy. CONCLUSION Even without ataxia, telangiectasia, or oculomotor apraxia, A-T should be considered in undiagnosed dystonia, especially generalized dystonia which started from childhood or adolescence period, and alpha-fetoprotein level can be a useful screening tool. In addition, cerebellar involvement is important considering different phenotype in dystonic A-T patients with and without cerebellar sign.

中文翻译：

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以肌张力障碍为主要表现的共济失调-毛细血管扩张症的临床特征

引言 除了小脑性共济失调，包括肌张力障碍在内的各种其他运动障碍也可能表现为共济失调毛细血管扩张症 (AT) 的主要临床症状。然而，肌张力障碍 AT 患者的临床特征尚不清楚。方法 为了研究肌张力障碍性 AT 的特征，我们筛选了以前以肌张力障碍为主要表现的 AT 患者的报告，并纳入了 16 项既往研究中的 38 名肌张力障碍 AT 患者和我们的 2 例病例。我们回顾了张力障碍 AT 患者的临床和人口统计学数据。此外，为了弄清肌张力障碍性 AT 中小脑受累的临床意义，我们根据是否存在小脑受累将他们分为两组，并比较两组之间的临床特征。结果 在肌张力障碍 AT 患者中，肌张力障碍往往出现在儿童期或青春期，并随着时间的推移变得普遍。舞蹈手足徐动症和肌阵挛比典型的临床特征更常见，包括小脑共济失调或萎缩、毛细血管扩张或动眼神经失用症。此外，肌张力障碍 AT 患者的甲胎蛋白水平也升高。当我们比较有和没有小脑受累的张力障碍 AT 时，前者与更多的毛细血管扩张和动眼神经失用有关，而后者与舞蹈手足徐动症和恶性肿瘤有关。结论即使没有共济失调、毛细血管扩张或动眼神经失用症，未确诊的肌张力障碍，尤其是从儿童或青春期开始的全身性肌张力障碍，也应考虑AT，甲胎蛋白水平可作为一种有用的筛查工具。此外，