腓骨肌萎缩症

最后审阅: 3 九月 2022
最后更新: 07 六月 2022

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
更多 关键诊断因素

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
其他诊断因素

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
更多 危险因素

诊断性检查

首要检查

  • 神经传导检查 (NCS)
更多 首要检查

需考虑的检查

  • 基因检测
  • 髋关节 X 线
  • 肺功能测试
更多 需考虑的检查

治疗流程

持续性治疗

所有患者

撰稿人

作者

Carly E. Siskind, MS, CGCL

Clinical Assistant Professor (Affiliated)

Certified Genetic Counselor

Stanford Health Care

Stanford University

Stanford

CA

利益声明

CES has an unpaid position on the Charcot Marie Tooth Association Advisory Board and is part of the Charcot Marie Tooth Disease Gene Curation Expert Panel for ClinGen. CES is a volunteer member of the Pediatric Best Practices for Charcot Marie Tooth disease panel. CES has received institutional funding from an Inherited Neuropathies Consortium research grant, funded by the Muscular Dystrophy Association and the National Institute for Health. CES was a volunteer speaker at the Charcot Marie Tooth Association Annual Patient and Family Conference 2021. CES has professional relationships with some authors of references cited in this topic.

鸣谢

Dr Carly E. Siskind would like to gratefully acknowledge Prof Richard A Lewis, her previous co-contributor to this topic.

利益声明

RAL is a consultant for Pharnext, 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 topic.

同行评议者

Pavel Seeman, MD, PhD

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.

Kinga Szigeti, MD, PhD

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 topic.

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