Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease.
10.3760/cma.j.issn.1003-9406.2012.05.011
- VernacularTitle:腓骨肌萎缩症的分型与分子诊断流程
- Author:
Ru-xu ZHANG
1
;
Bei-sha TANG
Author Information
1. Department of Neurology, Central South University, Changsha, Hunan, People's Republic of China. ruxu.zhang@yahoo.com.cn
- Publication Type:Journal Article
- MeSH:
Charcot-Marie-Tooth Disease;
classification;
diagnosis;
genetics;
Humans
- From:
Chinese Journal of Medical Genetics
2012;29(5):553-557
- CountryChina
- Language:Chinese
-
Abstract:
Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary neuropathy with significant clinical and genetic heterogeneity. So far 28 genes have been cloned. The main clinical manifestations of CMT include progressive distal muscle wasting and weakness, impaired distal sensation, and diminishing or loss of tendon reflex. Patients may be classified into demyelinating type (CMT1) and axonal type (CMT2) according to electrophysiological and pathological characteristics. Establishment of a standard diagnostic procedure based on clinical, electrophysiological and pathological findings will enable accurate diagnosis in most CMT patients and provide guidance for gene consulting and prognosis.
