Last reviewed: November 2017
Last updated: November  2017

Summary

Definition

History and exam

Key diagnostic factors

  • family history of Duchenne muscular dystrophy (DMD)
  • male gender
  • 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

Risk factors

  • family history of DMD
  • male gender

Diagnostic investigations

1st investigations to order

  • serum creatine kinase (CK)
  • genetic testing
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Consultant Paediatric Neurologist

Great Ormond Street Hospital for Children

London

UK

Disclosures

PM has received education and travel grants from PTC therapeutics (Ataluren) in 2016 for a conference.

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 VIEW ALL

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 monograph.

Use of this content is subject to our disclaimer