[The clinical and pathologic features of Charcot-Marie-Tooth disease].
OBJECTIVE
To study the clinical and pathological features of Charcot-Marie-Tooth disease (CMT).


METHODS
The general clinical data, the changes of neuroelectrophysiology and the pathological features of neural and muscular biopsy of 20 CMT patients were comprehensively analyzed.


RESULTS
The clinical manifestations in the two types of CMT were nearly the same, but the changes of neuroelectrophysiology and the pathological characteristics of the neural and muscular biopsy in the two types were obviously different. 16 cases of CMT type 1 were characterized by decreased sensory nerve conduction velocity (SNCV < 30 m/s) and are associated with demyelinating hypertrophic neuropathy. 4 cases of CMT tylpe 2 were characterized by normal SNCV and associated with axonopathy.


CONCLUSIONS
Neuroelectrophysiology and neural and muscular biopsy are important for the diagnosis of CMT.
Xiao
Bo
B
Department of Neurology, Xiangya Hospital, the Central South University, Changsha 410008, China. yanxia@public.cs.hn.cn
Xie
Jusheng
J
Yang
Xiaosu
X
Wu
Zhiguo
Z
Xiao
Jianfeng
J
Li
Jing
J
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000473:pathology*; D009132:Muscles / Q000473:pathology