Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal/Child Sciences, Genova, Italy.
Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242-1009, USA.
Neurol Sci. 2022 Apr;43(4):2759-2764. doi: 10.1007/s10072-021-05646-9. Epub 2021 Oct 6.
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy with an estimated prevalence of 1 person affected on 2500. Frequent symptoms include distal weakness and muscle wasting, sensory loss, reduced deep tendon reflexes, and skeletal deformities, such as hammer toes and pes cavus. CMT is a progressive disease and patients' needs change over their lifetime. In particular, ambulation aids are increasingly needed to maintain ambulation and reduce the risk of falls. We performed a retrospective analysis of medical records from 149 patients with confirmed CMT to evaluate patients ambulation needs related to the severity of their CMT as measured by the CMT Neuropathy Score (CMTNS) and Ambulation Index (AI). Most patients required some form of orthotics (86.6%). The CMTNS and AI scores both differed significantly between patients with no orthotics compared to those who wore insoles/inserts. The CMTNS and AI also differed significantly between patients wearing insoles and those with ankle foot orthotics (AFOs). CMTNS and the AI were valid predictors of the type and choice of the orthotics. Both the CMTNS and AI can be effective tools to aid in the correct choice of orthotics in patients affected by CMT.
腓骨肌萎缩症（CMT）是最常见的遗传性周围神经病，估计发病率为每 2500 人中就有 1 人患病。常见症状包括远端肌无力和肌肉萎缩、感觉丧失、深腱反射减弱以及骨骼畸形，如锤状趾和马蹄内翻足。CMT 是一种进行性疾病，患者的需求会随着时间的推移而改变。特别是，为了保持行走能力和降低跌倒风险，他们越来越需要助行器具。我们对 149 名确诊 CMT 患者的病历进行了回顾性分析，以评估患者的步行需求与 CMT 严重程度的关系，CMT 神经病变评分（CMTNS）和步行指数（AI）用于评估 CMT 严重程度。大多数患者需要某种形式的矫形器（86.6%）。与未使用矫形器的患者相比，使用鞋垫/插入物的患者的 CMTNS 和 AI 评分均有显著差异。使用鞋垫的患者与使用踝足矫形器（AFO）的患者之间的 CMTNS 和 AI 也有显著差异。CMTNS 和 AI 是矫形器类型和选择的有效预测指标。CMTNS 和 AI 都可以作为有效的工具，帮助选择适合 CMT 患者的矫形器。
