Diagnosis and treatment of Charcot-Marie-Tooth diseases
10.3760/cma.j.cn113694-20230915-00165
- VernacularTitle:腓骨肌萎缩症的诊治
- Author:
Xiaoli YAO
1
;
Ruojie HE
Author Information
1. 中山大学附属第一医院神经科（广东省重大神经疾病诊治研究重点实验室 国家临床重点专科和国家重点学科），广州 510080
- Keywords:
Charcot-Marie-Tooth diseases;
Diagnosis;
Treatment
- From:
Chinese Journal of Neurology
2024;57(3):290-297
- CountryChina
- Language:Chinese
-
Abstract:
Charcot-Marie-Tooth diseases are a group of most common inherited peripheral neuropathies. The predominant clinical presentations include distal predominance of limb-muscle weakness and atrophy, and sensory loss, as well as skeletal deformities such as pes cavus and scoliosis. On the basis of electrophysiological studies, nerve pathology, and inheritance characteristics, Charcot-Marie-Tooth diseases are subdivided into several types. Genetic tests are helpful to identify the pathogenic genes. Rehabilitation, surgical treatment, and symptomatic drug therapy contribute to ameliorate symptoms and skeletal deformities. Some specific therapeutic drugs targeting pathogenesis have been tested in clinical trials, though their efficacy and safety require further investigation.
