神经系统罕见病约占全部罕见病的60%，是罕见病中患者数量较多、影响范围较广的一类疾病。该类疾病具有高度异质性和复杂的临床表现，可累及神经肌肉、代谢、免疫或发育多个环节，因而诊断难度大、误诊率高。目前，国际上仍缺乏专门针对神经系统罕见病的统一分类标准，且该类疾病在临床实践中普遍面临诊断延迟和治疗可及性低的困境。本文围绕神经系统罕见病的分类、诊断与治疗3方面进行论述，旨在为临床提供参考。

Rare neurological diseases account for approximately 60% of all rare diseases, representing a category with a relatively large patient population and wide-ranging impact. These disorders are highly heterogeneous, with complex clinical manifestations that may involve neuromuscular, metabolic, immune, or developmental pathways. As a result, they are difficult to diagnose and prone to misdiagnosis. Currently, there is no internationally unified classification standard specifically for rare neurological diseases. In clinical practice, these conditions often face challenges such as delayed diagnosis and limited access to treatment. This article reviews the classification, diagnosis, and treatment of rare neurological diseases, aiming to provide clinical reference.