CNS - Campus Neurológico, Lisbon, Portugal.
Department of Neurology, Center of Expertise for Parkinson & Movement Disorders, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
J Parkinsons Dis. 2022;12(7):2015-2027. doi: 10.3233/JPD-223392.
Multiple system atrophy (MSA) is a sporadic and progressive neurodegenerative disorder with a complex differential diagnosis. A range of disorders- also of nondegenerative etiology- can mimic MSA, expanding its differential diagnosis. Both misdiagnosis and diagnostic delays are relatively common in clinical practice. A correct diagnosis is vital for daily clinical practice, in order to facilitate proper counselling and to timely install therapies in treatable disorders that mimic MSA. A correct diagnosis is also essential for including properly classified individuals into research studies that aim to better understand the pathophysiology of MSA, to develop specific biomarkers or to evaluate novel symptomatic or disease-modifying therapies. Here, we offer some practical guidance to support the diagnostic process, by highlighting conditions that may be considered as MSA lookalikes, by emphasizing some key clinical aspects of these mimics, and by discussing several useful ancillary diagnostic tests.
多系统萎缩(MSA)是一种散发性、进行性神经退行性疾病,具有复杂的鉴别诊断。一系列疾病——也有非退行性病因——可以模仿 MSA,从而扩大了其鉴别诊断范围。误诊和诊断延迟在临床实践中都比较常见。正确的诊断对于日常临床实践至关重要,以便于提供适当的咨询,并及时对可治疗的模仿 MSA 的疾病进行治疗。正确的诊断对于将适当分类的个体纳入旨在更好地了解 MSA 病理生理学、开发特定生物标志物或评估新型对症或疾病修饰治疗的研究中也很重要。在这里,我们提供一些实用的指导,通过突出可能被视为 MSA 类似物的疾病,强调这些类似物的一些关键临床方面,并讨论几种有用的辅助诊断测试,来支持诊断过程。