Muscular dystrophies

Last reviewed: 24 Feb 2023
Last updated: 26 Oct 2022



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


stage 1: ambulatory

stage 2: nonambulant

stage 3: ventilator-supported



Pinki Munot, MD

Consultant Paediatric Neurologist

Great Ormond Street Hospital for Children




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.


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




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




MKC declares that he has no competing interests.

Adnan Manzur, FRCPCH

Consultant Paediatric Neurologist

Great Ormond Street Hospital for Children NHS Trust




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




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
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