肌营养不良

最后审阅: 9 十一月 2022
最后更新: 23 三月 2021

小结

定义

病史和体格检查

关键诊断因素

  • 存在的危险因素
  • 下肢力量失衡
  • 下肢肌腱挛缩
  • 动作发展指标推迟
  • 腓肠肌肥大
  • 行走困难及跌倒
  • 肌张力及深腱反射减弱
  • 感觉正常
更多 关键诊断因素

其他诊断因素

  • Gowers体征
  • 用脚趾走路
  • 肌张力过低
  • 活动过度
  • 大小便失禁
  • 轻度至重度智力障碍
其他诊断因素

危险因素

  • DMD 家族史
  • 男性
更多 危险因素

诊断性检查

首要检查

  • 血清肌酸激酶 (CK)
  • 基因检测
更多 首要检查

需考虑的检查

  • 肌电图(EMG)
  • 肌肉活检
更多 需考虑的检查

治疗流程

急症处理

阶段1:可步行的患者

阶段 2:不能行走

阶段3:需呼吸机支持的患者

撰稿人

作者

Pinki Munot, MD

Consultant Paediatric Neurologist

Great Ormond Street Hospital for Children

London

UK

利益声明

PM received education and travel grants from PTC therapeutics in 2016 for a conference. He is principal investigator for the SIDEROS trial for idebenone in Duchenne muscular dystrophy sponsored by Santhera Pharmaceuticals. He lectured on muscular dystrophies at the Practical Neurology study days in 2017 and 2018.

鸣谢

Dr Pinki Munot would like to gratefully acknowledge Dr John R. Bach, Dr Aravindhan Veerapandiyan, and Dr Bilal Saulat, previous contributors to this topic. JRB, AV, and BS declare that they have no competing interests.

同行评议者

Lisa D. Hobson-Webb, MD

Assistant Professor of Medicine

Department of Medicine/Neurology

Duke University Medical Center

Durham

NC

利益声明

LDH-W declares that she has no competing interests.

Martin K. Childers, DO, PhD

Associate Professor Neurology and Regenerative Medicine

Wake Forest University Health Sciences

Winston-Salem

NC

利益声明

MKC declares that he has no competing interests.

Adnan Manzur, FRCPCH

Consultant Paediatric Neurologist

Great Ormond Street Hospital for Children NHS Trust

London

UK

利益声明

AM has been paid an honorarium for giving lectures at the Imperial College Educative Training Courses for GPs and post-graduate doctors. AM is the lead author of the Cochrane review of corticosteroids in Duchenne muscular dystrophy. He is also the Lead Clinician of the NorthStar Clinical Network for Management of Neuromuscular Disorders in the UK.

Richard W. Orrell, BSc, MD, FRCP

Senior Lecturer and Consultant Neurologist

Department of Clinical Neuroscience

UCL Institute of Neurology

London

UK

利益声明

RWO is an author of a reference cited in this topic.

  • 肌营养不良 images
  • 鉴别诊断

    • Becker 肌营养不良 (BMD)
    • 肢带肌营养不良(LGMDs)
    • Emery-Dreifuss肌营养不良
    更多 鉴别诊断
  • 指南

    • Duchenne 肌营养不良的诊断和治疗,第 2 部分:呼吸、心脏、骨健康和骨科管理
    • Duchenne 肌营养不良的诊断和治疗,第 3 部分:初级医疗保健、急症管理、社会心理治疗和终生护理的过渡
    更多 指南
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