Muscular dystrophies

Last reviewed: 8 Nov 2022
Last updated: 26 Oct 2022

Summary

Definition

History and exam

Key diagnostic factors

  • 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
More key diagnostic factors

Other diagnostic factors

  • Gowers sign
  • toe walking
  • hypotonia
  • hyperactivity
  • urinary and bowel incontinence
  • mild to severe intellectual disability
Other diagnostic factors

Risk factors

  • family history of DMD
  • male sex
More risk factors

Diagnostic investigations

1st investigations to order

  • serum creatine kinase (CK)
  • genetic testing
More 1st investigations to order

Investigations to consider

  • electromyogram (EMG)
  • muscle biopsy
More investigations to consider

Treatment algorithm

ACUTE

stage 1: ambulatory

stage 2: nonambulant

stage 3: ventilator-supported

Contributors

Authors

Pinki Munot, MD

Consultant Paediatric Neurologist

Great Ormond Street Hospital for Children

London

UK

Disclosures

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.

Acknowledgements

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.

Peer reviewers

Lisa D. Hobson-Webb, MD

Assistant Professor of Medicine

Department of Medicine/Neurology

Duke University Medical Center

Durham

NC

Disclosures

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

Disclosures

MKC declares that he has no competing interests.

Adnan Manzur, FRCPCH

Consultant Paediatric Neurologist

Great Ormond Street Hospital for Children NHS Trust

London

UK

Disclosures

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

Disclosures

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

  • Muscular dystrophies images
  • Differentials

    • Becker muscular dystrophy (BMD)
    • Limb-girdle muscular dystrophies (LGMDs)
    • Emery-Dreifuss muscular dystrophy
    More Differentials
  • Guidelines

    • Clinical guidance in neuropalliative care: an AAN position statement
    • Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan
    More Guidelines
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer