Duchenne Muscular Dystrophy (DMD)

Understanding Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy (DMD) is a genetic neuromuscular disorder characterized by progressive muscle weakness and degeneration. It is caused by mutations in the DMD gene, which leads to a lack of dystrophin—a protein essential for muscle stability. DMD primarily affects boys, with symptoms typically appearing in early childhood. As the disease progresses, muscle weakness worsens, leading to loss of mobility and potential complications that can affect the heart and lungs.

Common Signs and Symptoms of DMD:

• Progressive Muscle Weakness:

  • Early signs often include difficulty with running, jumping, or climbing stairs.
  • Gradual loss of muscle strength, typically beginning in the lower limbs and progressing upward.

• Delayed Motor Development:

  • Delays in reaching developmental milestones such as walking.

• Frequent Falls and Difficulty Rising:

  • Increased frequency of falls and trouble getting up from a seated or lying position (Gowers’ sign).

• Loss of Mobility:

  • As muscle degeneration advances, many individuals may eventually require a wheelchair.

• Cardiac and Respiratory Complications:

  • Heart muscle involvement can lead to cardiomyopathy.
  • Respiratory muscle weakness may cause breathing difficulties over time.

This information is provided as a resource and is not intended to diagnose a condition or prescribe treatment. Please discuss any symptoms you may exhibit with your physician.