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
- Gowers sign
Other diagnostic factors
- toe walking
- hypotonia
- hyperactivity
- urinary and bowel incontinence
- mild to severe intellectual disability
Risk factors
- family history
- male sex
Diagnostic tests
1st tests to order
- serum creatine kinase (CK)
- genetic testing
Tests to consider
- electromyogram (EMG)
- muscle biopsy
- muscle MRI
Treatment algorithm
DMD: ambulatory stage
DMD: early nonambulatory stage
DMD: late nonambulatory stage
spinal muscular atrophy (SMA)
Contributors
Authors
Pinki Munot, MD
Consultant Paediatric Neurologist
Great Ormond Street Hospital for Children
London
UK
Disclosures
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.
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.
Disclosures
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.
References
Key articles
Mercuri E, Finkel RS, Muntoni F, et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018 Feb;28(2):103-15.Full text Abstract
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.Full text Abstract
Finkel RS, Mercuri E, Meyer OH, et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018 Mar;28(3):197-207.Full text Abstract
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.Full text Abstract
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.Full text Abstract
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.Full text Abstract
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.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Polymyositis
- Static encephalopathies (cerebral palsy)
More DifferentialsGuidelines
- 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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