Rossor Alexander M, Evans Matthew R B, Reilly Mary M
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK.
Pract Neurol. 2015 Jun;15(3):187-98. doi: 10.1136/practneurol-2015-001095. Epub 2015 Apr 21.
Charcot-Marie-Tooth disease is the commonest inherited neuromuscular disease. It is characterised by degeneration of peripheral sensory and motor nerves and can be classified into axonal and demyelinating forms. This review provides a diagnostic approach to patients with suspected inherited neuropathy and an algorithm for genetic testing that includes recent advances in genetics such as next-generation sequencing. We also discuss important aspects of the long-term management of patients with inherited neuropathy.
夏科-马里-图斯病是最常见的遗传性神经肌肉疾病。其特征为周围感觉和运动神经变性,可分为轴索性和脱髓鞘性两种类型。本综述为疑似遗传性神经病患者提供了一种诊断方法以及一份基因检测算法,其中涵盖了诸如新一代测序等遗传学领域的最新进展。我们还讨论了遗传性神经病患者长期管理的重要方面。