A 50-year-old male patient presented with a 10-year history of progressive cerebellar ataxia, multifocal dystonia with dystonic tremors, and oculomotor abnormalities including bilateral ptosis, slow saccades, and reduced range of ocular movements. There were no signs of cognitive impairment, parkinsonism, autonomic dysfunction, or muscle weakness, and the family history was unremarkable. This case presents the diagnostic approach to adult-onset cerebellar ataxia with dystonia and abnormal eye movements. In this era of genomic testing, our case highlights the role of clinical phenotyping and the utility of whole-exome sequencing in ataxias.

中文翻译：

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临床推理： 一名 50 岁男性，患有共济失调、肌张力障碍和异常眼球运动。


一名 50 岁男性患者有 10 年进行性小脑性共济失调、多灶性肌张力障碍伴肌张力障碍性震颤和动眼神经异常（包括双侧上睑下垂、扫视缓慢和眼球运动范围缩小）的病史。无认知障碍、帕金森综合征、自主神经功能障碍或肌无力的体征，家族史无明显异常。本病例介绍了成人小脑共济失调伴肌张力障碍和眼球运动异常的诊断方法。在这个基因组检测时代，我们的案例强调了临床表型分析的作用和全外显子组测序在共济失调中的效用。