Ashizawa Tetsuo, Xia Guangbin
Continuum (Minneap Minn). 2016 Aug;22(4 Movement Disorders):1208-26. doi: 10.1212/CON.0000000000000362.
This article introduces the background and common etiologies of ataxia and provides a general approach to assessing and managing the patient with ataxia.
Ataxia is a manifestation of a variety of disease processes, and an underlying etiology needs to be investigated. Pure ataxia is rare in acquired ataxia disorders, and associated symptoms and signs almost always exist to suggest an underlying cause. While the spectrum of hereditary degenerative ataxias is expanding, special attention should be addressed to those treatable and reversible etiologies, especially potentially life-threatening causes. This article summarizes the diseases that can present with ataxia, with special attention given to diagnostically useful features. While emerging genetic tests are becoming increasingly available for hereditary ataxia, they cannot replace conventional diagnostic procedures in most patients with ataxia. Special consideration should be focused on clinical features when selecting a cost-effective diagnostic test.
Clinicians who evaluate patients with ataxia should be familiar with the disease spectrum that can present with ataxia. Following a detailed history and neurologic examination, proper diagnostic tests can be designed to confirm the clinical working diagnosis.
本文介绍共济失调的背景和常见病因,并提供评估和管理共济失调患者的一般方法。
共济失调是多种疾病过程的表现,需要对潜在病因进行调查。在获得性共济失调疾病中,单纯共济失调很少见,几乎总会存在相关症状和体征以提示潜在病因。虽然遗传性退行性共济失调的范围在不断扩大,但应特别关注那些可治疗和可逆的病因,尤其是可能危及生命的病因。本文总结了可表现为共济失调的疾病,并特别关注诊断有用的特征。虽然新兴的基因检测越来越多地用于遗传性共济失调,但在大多数共济失调患者中,它们不能取代传统的诊断程序。在选择具有成本效益的诊断测试时,应特别考虑临床特征。
评估共济失调患者的临床医生应熟悉可表现为共济失调的疾病谱。在进行详细的病史和神经系统检查后,可以设计适当的诊断测试以确认临床工作诊断。