Question
A 5 year old boy has frequent falls, difficulty climbing stairs and enlarged calves. He rises from the floor as shown.
- What is the sign and the likely diagnosis?
- How is the diagnosis confirmed?
- What are the orthopaedic problems and how are they managed?
Answer
Sign and diagnosis
- Gowers sign, the child climbs up the thighs using the hands, indicating proximal weakness
- Duchenne muscular dystrophy
- X linked recessive, absent dystrophin
- Calf pseudohypertrophy
Confirmation
- Creatine kinase markedly raised (often 10 to 100 times normal)
- Genetic testing for dystrophin deletions
- Muscle biopsy with absent dystrophin staining if genetic testing is unclear
- Becker muscular dystrophy is milder with reduced dystrophin
Orthopaedic problems
- Corticosteroids prolong walking and reduce scoliosis
- Equinus contractures, stretching and night splints
- Loss of walking between 10 and 12 years
- Scoliosis after loss of walking in most untreated boys
- Posterior spinal fusion at 20 to 30 degrees, before forced vital capacity falls below 30 to 35%
- Bracing does not stop the curve
- Cardiomyopathy and respiratory failure, preoperative assessment
- Malignant hyperthermia like reactions, avoid suxamethonium and volatile agents
- Osteoporosis and fractures from steroids
Related pages
Author Contributions
Orthofracs team
Reviewed by Professor Phong Tran, Head of Orthopaedic Surgery, Western Health. Last updated 10 October 2026.