Duchenne muscular dystrophy (DMD) is a rare but serious X-linked condition that affects boys almost exclusively, with 150–200 new cases diagnosed annually in France alone. One of the earliest and most telling signs is the Gower sign — observed when a child uses their hands to push up along their thighs to stand from the floor — typically seen in children aged 2–5. Other red flags include a waddling gait, calf pseudohypertrophy, frequent falls, and delayed language or learning development.

Diagnosis is confirmed through a combination of serum creatine kinase levels, muscle biopsy, and genetic testing targeting mutations in the DMD gene. Once confirmed, a full assessment of motor, respiratory, cardiac, and cognitive function is initiated. Clinicians are advised to discuss the diagnosis with both parents first, before involving the child.

Key Takeaways:

• Serum creatine kinase in DMD is typically 5,000–10,000 IU/L — a major diagnostic marker
• Corticosteroids remain the only medications proven to benefit motor function
• Givinostat has recently received conditional marketing authorization in Europe, targeting muscle inflammation and fibrosis
• Loss of ambulation typically occurs between ages 7–14

Why it matters: Early identification and referral can meaningfully change outcomes. With advances in treatment extending life expectancy beyond age 40, catching DMD early gives patients the best shot at timely, multidisciplinary care.