最近审阅: 4 十一月 2020
最近更新: 09 三月 2018

小结

定义

病史和体格检查

关键诊断因素

  • 神经病变、高弓足或步态异常的家族史
  • 行走困难
  • 弓形足
  • 跨阈步态
  • 弥漫性深腱反射减弱或反射消失
  • 肌肉力量减退
  • 感觉减退
  • 一过性感觉性症状
  • 一过性运动性症状

其他诊断因素

  • 足部及踝关节的既往手术
  • 儿童时期平衡障碍
  • 踝关节无力
  • 手部及足部感觉异常
  • 踮起脚尖走
  • 运动里程碑事件延迟,且无行走能力
  • 感觉共济失调
  • 脊柱后侧凸

危险因素

  • 神经病变、高弓足(患者具有高足弓及锤状趾症状)或步态异常的家族史

诊断性检查

治疗流程

进行中

撰稿人

Clinical Assistant Professor (Affiliated)

Certified Genetic Counselor

Stanford Health Care

Stanford University

Stanford

CA

利益声明

CES has been given honoraria by the Invitae Corporation for giving a webinar on CMT, and honoraria by the National Society of Genetic Counselors for giving a webinar on neuromuscular conditions. CES is an unpaid member of the Charcot-Marie-Tooth Association Advisory Board. CES has professional relationships with some authors of works found in this monograph.

Professor of Neurology

Director

EMG Laboratory

Co-Director

Neuromuscular Clinic

Cedars-Sinai Hospital

Los Angeles

CA

利益声明

RAL is a consultant for Pharnext (currently doing a clinical trial in Charcot-Marie-Tooth disease), CSL Behring, and Axelacare. He is on the Medical Advisory Board for GBS-CIDP Foundation, MGFA, and MGF of Ca. He has done expert testimony related to GBS, CIDP, and other neurologic disorders, and educational talks for AAN, AANEM, CSL Behring, and Optioncare. With the exception of Pharnext, none of these relationships are related to Charcot-Marie-Tooth disease. RAL is an author of a number of references cited in this monograph.

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Associate Professor (Doc)

Head of the DNA Laboratory

Department of Child Neurology

Second School of Medicine

Charles University

Prague

and University Hospital Motol

Prague

Czech Republic

利益声明

PS declares that he has no competing interests.

Assistant Professor

Department of Neurology and Molecular and Human Genetics

Baylor College of Medicine

Neurosensory Center

Houston

TX

利益声明

KS is an author of a reference cited in this monograph.

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