To the Editor:Charcot-Marie-Tooth disease(CMT)encompasses a genetically heterogeneous group of inherited neuropathies,characterized by progressive distal muscle weakness and atrophy,sensory deficits,impaired tendon re...To the Editor:Charcot-Marie-Tooth disease(CMT)encompasses a genetically heterogeneous group of inherited neuropathies,characterized by progressive distal muscle weakness and atrophy,sensory deficits,impaired tendon reflexes,and foot deformities.[1]To date,more than 80 causative genes have been identified in CMT patients,associated with either autosomal dominant or recessive inheritance,or X-linked transmission.The traditional classification of CMT was based on peripheral neuropathy type,as determined by nerve conduction velocity.As more causative genes were identified and the overlap of neuropathy phenotypes became apparent,the traditional classification system proved unwieldy and inadequate.Moreover,CMT needs to be distinguished from several entities including systemic disorders with neuropathy and other types of hereditary neuropathy.In clinical practice,overlap of phenotypes can present a major challenge in reaching the correct diagnosis.This study aimed to investigate the genetic profile in a cohort of Chinese CMT patients and evaluate the role of genetic testing in the diagnosis and subtyping of CMT.展开更多
基金grants from the Science and Technology Department of Zhejiang Province(No.2019C03017)the National Natural Science Foundation of China(No.30672264,No.81870895,No.81600850,No.81571089,and No.81371266)。
文摘To the Editor:Charcot-Marie-Tooth disease(CMT)encompasses a genetically heterogeneous group of inherited neuropathies,characterized by progressive distal muscle weakness and atrophy,sensory deficits,impaired tendon reflexes,and foot deformities.[1]To date,more than 80 causative genes have been identified in CMT patients,associated with either autosomal dominant or recessive inheritance,or X-linked transmission.The traditional classification of CMT was based on peripheral neuropathy type,as determined by nerve conduction velocity.As more causative genes were identified and the overlap of neuropathy phenotypes became apparent,the traditional classification system proved unwieldy and inadequate.Moreover,CMT needs to be distinguished from several entities including systemic disorders with neuropathy and other types of hereditary neuropathy.In clinical practice,overlap of phenotypes can present a major challenge in reaching the correct diagnosis.This study aimed to investigate the genetic profile in a cohort of Chinese CMT patients and evaluate the role of genetic testing in the diagnosis and subtyping of CMT.
