Duchenne muscular dystrophy
Also called: DMD, Muscular dystrophy
An inherited condition, almost always in boys, in which lack of the protein dystrophin causes progressive muscle weakness from early childhood.
Condition-specific references are below. Individual claims and this page have not been clinically reviewed. Read about this content.
Causes
- Mutations in the DMD gene on the X chromosome
Risk factors
- Male sex; mothers who are carriers
Symptoms
- Delayed walking
- Frequent falls
- Difficulty climbing stairs; rising using hands on legs (Gowers' sign)
- Enlarged calves
- Later heart and breathing problems
Diagnosis — tests and examinations
- Very high creatine kinase
- Genetic testing
Treatment
Medicines and medical treatment
- Corticosteroids (prednisolone, deflazacort, vamorolone)
- Exon-skipping drugs for specific mutations
- Gene therapy (delandistrogene) in eligible patients
- Heart medicines
Operations and procedures
- Spinal surgery for scoliosis
- Non-invasive ventilation
Self-care, home remedies and lifestyle
- Physiotherapy and stretching
- Multidisciplinary care
Possible complications
- Cardiomyopathy
- Respiratory failure
- Scoliosis
Prevention
- Genetic counselling for carrier families
Outlook
Life expectancy now often into the 30s or beyond with modern care.
When to see a doctor
See a doctor for delayed motor milestones or frequent falls in a young boy.
Sources and further reading
These sources cover this condition. They have not been checked against every statement on this page.
Related conditions
Educational overview, not medical advice. Treatment varies by person and location. Consult a qualified health professional for diagnosis or care. Read our content and model notes and privacy information.