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Muscular dystrophies

最后审阅: 17 Aug 2025
最后更新: 29 Jul 2025

小结

定义

病史和体格检查

关键诊断因素

  • family history of DMD
  • male sex
  • imbalance of lower limb strength
  • lower extremity musculotendinous contractures
  • delayed motor milestones
  • calf hypertrophy
  • ambulation difficulty and falls
  • diminished muscle tone and deep tendon reflexes
  • normal sensation
  • Gowers sign
完整详情

其他诊断因素

  • toe walking
  • hypotonia
  • hyperactivity
  • urinary and bowel incontinence
  • mild to severe intellectual disability
完整详情

危险因素

  • family history
  • male sex
完整详情

诊断性检查

首要检查

  • serum creatine kinase (CK)
  • genetic testing
完整详情

需考虑的检查

  • electromyogram (EMG)
  • muscle biopsy
  • muscle MRI
完整详情

治疗流程

急症处理

DMD: ambulatory stage

DMD: early nonambulatory stage

DMD: late nonambulatory stage

spinal muscular atrophy (SMA)

撰稿人

作者

Pinki Munot, MD

Consultant Paediatric Neurologist

Great Ormond Street Hospital for Children

London

UK

利益声明

PM is a principal investigator for the Sideros trial in DMD and the ARGNX trial in Myasthenia, and a sub-investigator for the SHINE trial. PM was reimbursed for presenting at the PULSE 65 rare disease day for GPs in December 2023 and for the RCPCH 2022 lunch time symposium by PTC therapeutics.

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.

利益声明

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.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

参考文献

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

关键文献

Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018 Mar;17(3):251-67.全文  摘要

Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347-61.全文  摘要

Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018 May;17(5):445-55.全文  摘要

Feingold B, Mahle WT, Auerbach S, et al. Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association. Circulation. 2017 Sep 26;136(13):e200-31.全文  摘要

Gloss D, Moxley RT 3rd, Ashwal S, et al. Practice guideline update summary: corticosteroid treatment of Duchenne muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016 Feb 2;86(5):465-72.全文  摘要

参考文献

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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    • Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management
    • Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management
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