DMD stands for Duchenne Muscular Dystrophy, a rare and severe genetic disorder that primarily affects boys and causes progressive muscle weakness and degeneration.

Here’s a simplified breakdown:

🧬 Cause

• DMD is caused by mutations in the DMD gene, which is responsible for producing dystrophin, a protein that helps keep muscle cells intact.

• Without dystrophin, muscles become damaged and weaken over time.

• It’s inherited in an X-linked recessive pattern, meaning it mostly affects males.

👶 Onset & Symptoms

• Symptoms usually appear between ages 2 and 5.

• Early signs include:

  • Difficulty walking, running, or climbing stairs

  • Frequent falls

  • Enlarged calf muscles (due to fat replacing muscle)

  • Walking on toes or waddling gait

  • Trouble standing up (often using hands to “walk” up their legs—called Gowers’ sign)

🩺 Progression

• Muscle weakness worsens over time, eventually affecting the heart and lungs.

• Most children need a wheelchair by age 12.

• Life expectancy has improved with care, but many live into their 20s to 40s.

💊 Treatment

• There’s no cure, but treatments can slow progression:

  • Steroids (like prednisone or vamorolone)

  • Gene therapies (e.g., eteplirsen, delandistrogene)

  • Physical therapy, braces, and mobility aids

  • Heart and lung support as the disease advances