以痛性痉挛为首发表现的CANVAS/RFC1相关疾病

文献信息

中文摘要

RFC1基因的双等位基因突变与CANVAS综合征（小脑性共济失调、神经病和前庭无反射）相关。以感觉神经元病和小纤维自主神经轴索病形式出现的周围神经受累是其表现的核心特征。另一方面，运动表现仍知之甚少且特征描述不完整。我们报告了两例因评估肌肉痛性痉挛这一主要临床症状而转诊的患者，最终被诊断为CANVAS。我们还对痛性痉挛及其他运动表现作为该疾病主要症状的文献进行了综述。本研究强调了对痛性痉挛作为可能的孤立运动表现的认识，扩展了RFC1相关疾病的表型谱，并提示需要高度怀疑才能准确识别该疾病。

英文摘要

Biallelic mutations in the RFC1 gene are associated with CANVAS syndrome (cerebellar ataxia, neuropathy and vestibular areflexia). Peripheral nerve involvement in the form of sensory neuronopathy and small fiber autonomic axonopathy is a core feature of its presentation. Motor manifestations, in the other hand, remain poorly understood and incompletely characterized.We present two cases referred for evaluation of muscle cramps as the main clinical symptom, who were ultimately diagnosed with CANVAS. We also conducted a literature review on cramps and other motor manifestations as the predominant symptom in this condition.This study highlights the recognition of cramps as a possible isolated motor manifestation, expanding the phenotypic spectrum of RFC1-related disease and the need of a high index of suspicion to accurately identified the condition.