PDF(Pubmed)
Abstract：
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT), is a member of the inherited neuropathy family with specific clinical and genetical manifestations. More than twenty genes have been linked to HMSN, and the number might increase. Regarding diagnosis, a healthcare provider should be suspicious if the patient is young with a family history. Integrative diagnosis, which includes electrophysiological, radiological, and genetic screening, is of great value to exclude metabolic, nutritive-toxic, infectious, and inflammatory or autoimmunological causes and to reach the exact subtype of hereditary neuropathy. Nowadays, next-generation sequencing-based analysis is becoming a routine diagnostic tool for inherited neuropathy, but if this facility is not available, electrophysiological and radiological diagnoses are the best diagnostic tools to be used. Differentiation between hereditary neuropathy and diabetic neuropathy is essential for primary care physicians to have the right plan.
摘要：
遗传性运动和感觉神经病（HMSN），也称为Charcot-Marie-Tooth病（CMT），是遗传性神经病变家族的成员，具有特定的临床和遗传表现。已经有二十多个基因与HMSN相关,数量可能会增加。关于诊断，如果患者年轻且有家族史,医疗保健提供者应对此表示怀疑.综合诊断,其中包括电生理学，放射学,和基因筛查，排除新陈代谢非常有价值，营养有毒，传染性,和炎症或自身免疫原因，并达到遗传性神经病的确切亚型。如今,基于下一代测序的分析正在成为遗传性神经病的常规诊断工具，但是如果这个设施不可用，电生理和放射诊断是最好的诊断工具。遗传性神经病和糖尿病性神经病之间的区别对于初级保健医生具有正确的计划至关重要。
