[Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(5): 553-7, 2012 Oct.
Article
em Zh
| MEDLINE
| ID: mdl-23042392
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.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
Idioma:
Zh
Ano de publicação:
2012
Tipo de documento:
Article