腓骨肌萎缩症的诊治

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中文摘要：腓骨肌萎缩症是最常见的一组遗传性周围神经病，临床特点包括对称性远端为主的肌无力伴萎缩、感觉减退以及弓形足、脊柱侧凸等骨骼畸形。临床上根据神经电生理、病理学和遗传学特点可分为多种亚型，基因检测手段有助于明确其致病基因。康复治疗、外科矫形手术治疗和改善症状的药物治疗有助于缓解疾病症状，减轻骨骼畸形。部分针对病因和发病机制的特异性治疗药物已进入临床试验阶段，其疗效和安全性有待进一步明确。 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.

外文标题：Diagnosis and treatment of Charcot-Marie-Tooth diseases

外文摘要：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.

外文关键词：

Charcot-Marie-Tooth diseasesDiagnosisTreatment

作者：

姚晓黎、何若洁、许倩

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作者单位：

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

关键词：

夏科-马里-图斯病诊断治疗

基金：

国家自然科学基金面上项目国家自然科学基金青年科学基金广东省重大神经疾病诊治研究重点实验室项目广东省神经系统疾病临床医学研究中心项目华南神经疾病早期干预及功能修复研究国际联合研究中心项目华南神经疾病早期干预及功能修复研究国际联合研究中心项目广东省神经系统重大疾病诊治工程技术研究中心、广东省神经系统重大疾病诊治转化医学创新平台和广州市神经系统重大疾病临床医学研究与转化中心项目

项目编号：

82271448820013322020B12120600172020B11111700022015B0505010032020A0505020004201604020010

出版年：

2024

DOI：

10.3760/cma.j.cn113694-20230915-00165

中华神经科杂志

中华医学会

中华神经科杂志

CSTPCD北大核心

影响因子：1.329

ISSN：1006-7876

年,卷(期)：2024.57(3)

参考文献量36