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
Other diagnostic factors
- Gowers sign
- toe walking
- hypotonia
- hyperactivity
- urinary and bowel incontinence
- mild to severe intellectual disability
Risk factors
- family history of DMD
- male sex
Diagnostic investigations
1st investigations to order
- serum creatine kinase (CK)
- genetic testing
Investigations to consider
- electromyogram (EMG)
- muscle biopsy
Treatment algorithm
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.
Differentials
- Becker muscular dystrophy (BMD)
- Limb-girdle muscular dystrophies (LGMDs)
- Emery-Dreifuss muscular dystrophy
More DifferentialsGuidelines
- 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
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