Turner Martin R, Talbot Kevin
University of Oxford Nuffield Department of Clinical Neurosciences, Oxford, UK.
Pract Neurol. 2013 Jun;13(3):153-64. doi: 10.1136/practneurol-2013-000557. Epub 2013 Apr 24.
The progression of motor neurone disease (MND) is currently irreversible, and the grave implications of diagnosis naturally fuels concern among neurologists over missing a potential mimic disorder. There is no diagnostic test for MND but in reality there are few plausible mimics in routine clinical practice. In the presence of a progressive pure motor disorder, signs such as florid fasciculations, bilateral tongue wasting, the 'split hand', head drop, emotionality, and cognitive or behavioural impairment carry high positive predictive value. MND is clinically heterogeneous, however, with some important chameleon-like presentations and considerable variation in clinical course. Lack of confidence about the scope of such variation, or an approach to diagnosis emphasising investigations over clinical common sense, has the potential to exacerbate diagnostic delay in MND and impede timely planning of the care which is essential to maximising quality of life.
运动神经元病(MND)的病情发展目前是不可逆的,而诊断所带来的严重影响自然引发了神经科医生对漏诊潜在相似疾病的担忧。目前尚无针对MND的诊断性检查,但在实际的常规临床实践中,可能被误诊为MND的疾病并不多。对于进行性纯运动障碍患者,如明显的肌束震颤、双侧舌肌萎缩、“分裂手”、垂头、情绪波动以及认知或行为障碍等体征具有较高的阳性预测价值。然而,MND在临床上具有异质性,存在一些重要的类似变色龙的表现,临床病程也有很大差异。对这种差异范围缺乏信心,或者诊断方法过于强调检查而忽视临床常识,有可能加剧MND的诊断延迟,并阻碍及时制定护理计划,而这对于最大限度提高生活质量至关重要。