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 mental retardation
Diagnostic investigations
1st investigations to order
- serum creatine kinase (CK)
- genetic testing
Treatment algorithm
Contributors
Authors
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.
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
Assistant Professor of Medicine
Department of Medicine/Neurology
Duke University Medical Center
Durham
NC
Disclosures
LDH-W declares that she has no competing interests.
Associate Professor Neurology and Regenerative Medicine
Wake Forest University Health Sciences
Winston-Salem
NC
Disclosures
MKC declares that he has no competing interests.
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.
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.
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