疾病
医学
周围神经病变
淀粉样变性
牙病
神经科学
遗传性运动和感觉神经病
遗传异质性
生物信息学
病理
生物
基因
遗传学
糖尿病
内分泌学
表型
作者
Marion Masingue,Gorka Fernández‐Eulate,Rabab Debs,Céline Tard,Céline Labeyrie,Sarah Léonard-Louis,M A Masson,Philippe Latour,Tanya Stojkovic
标识
DOI:10.1016/j.neurol.2022.11.007
摘要
Inherited neuropathies are a heterogeneous group of slowly progressive disorders affecting either motor, sensory, and/or autonomic nerves. Peripheral neuropathy may be the major component of a disease such as Charcot-Marie-Tooth disease or a feature of a more complex multisystemic disease involving the central nervous system and other organs. The goal of this review is to provide the clinical clues orientating the genetic diagnosis in a patient with inherited peripheral neuropathy. This review focuses on primary inherited neuropathies, amyloidosis, inherited metabolic diseases, while detailing clinical, neurophysiological and potential treatment of these diseases.
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