MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.
J Peripher Nerv Syst. 2011 Mar;16(1):1-14. doi: 10.1111/j.1529-8027.2011.00324.x.
Charcot-Marie-Tooth (CMT) disease is the commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in understanding the molecular basis for many forms of CMT with more than 30 causative genes now described. This has made obtaining an accurate genetic diagnosis possible but at times challenging for clinicians. This review aims to provide a simple, pragmatic approach to diagnosing CMT from a clinician's perspective.
腓骨肌萎缩症（CMT）是最常见的遗传性神经肌肉疾病，至少影响每 2500 人中的 1 人。在过去的二十年中，人们对许多形式的 CMT 的分子基础有了快速的理解，目前已经描述了超过 30 种致病基因。这使得获得准确的遗传诊断成为可能，但有时对临床医生来说具有挑战性。本综述旨在从临床医生的角度提供一种简单实用的诊断 CMT 的方法。
