DMD stands for Duchenne Muscular Dystrophy, a rare and severe genetic disorder that causes progressive muscle weakness and degeneration. Here’s a quick breakdown:

🧬 What causes DMD?

• It’s 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.

• DMD is X-linked recessive, meaning it primarily affects boys, though girls can be carriers and occasionally show mild symptoms.

👶 When does it appear?

• Symptoms usually begin between ages 2 and 5.

• Early signs include:

  • Difficulty walking or climbing stairs

  • Frequent falls

  • Enlarged calf muscles (pseudohypertrophy)

  • Delayed speech or motor milestones

🩺 How is it diagnosed?

• Genetic testing confirms the mutation in the DMD gene.

• Blood tests may show elevated creatine kinase (CK) levels.

• Muscle biopsy or imaging may be used in some cases.

💊 Is there a cure?

• There’s no cure yet, but treatments can help manage symptoms and slow progression:

  • Steroids (like prednisone or vamorolone)

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

  • Physical therapy, mobility aids, and respiratory support

  • Cardiac care is essential, as the heart muscle is also affected