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What is Duchenne Muscular Dystrophy (DMD)?

Duchenne Muscular Dystrophy (DMD) is a rare, inherited neuromuscular disorder that primarily affects boys. It causes progressive muscle weakness and degeneration due to the absence of a protein called dystrophin, which is essential for healthy muscle function. DMD typically appears in early childhood and gradually worsens over time, affecting the muscles used for movement, breathing, and heart function.

Causes and Inheritance

DMD is caused by mutations in the dystrophin gene, located on the X chromosome. Since males have only one X chromosome, the absence of a functioning dystrophin gene leads to the development of the disease. Females are usually carriers and may not show symptoms, although in rare cases they can have mild muscle weakness.

Signs and Symptoms

Symptoms usually begin between ages 2 and 5 and may include:

  • Delayed walking or frequent falls
  • Difficulty climbing stairs or running
  • Enlarged calf muscles (pseudohypertrophy)
  • Trouble rising from the floor (Gower’s sign)
  • Walking on toes or waddling gait
  • Progressive loss of mobility
  • Breathing difficulties in later stages
  • Heart complications (cardiomyopathy)

As the condition progresses, most children with DMD lose the ability to walk by their early teens and require a wheelchair. Eventually, the muscles that control breathing and the heart are affected.

Diagnosis

DMD is diagnosed through a combination of:

  • Physical examination and medical history
  • Blood tests to check for high levels of creatine kinase (CK), an enzyme released by damaged muscles
  • Genetic testing to confirm mutations in the dystrophin gene
  • Muscle biopsy (in some cases)
  • Heart and lung evaluations to monitor function

Treatment and Management

There is currently no cure for DMD, but early intervention and supportive care can improve quality of life and extend life expectancy. Management includes:
Medical Treatment:

  • Corticosteroids (e.g., prednisone, deflazacort) to slow muscle degeneration
  • Heart medications to treat cardiomyopathy
  • Respiratory support (e.g., non-invasive ventilation)

 

Rehabilitation and Supportive Care:

  • Physiotherapy: Maintains joint flexibility, reduces contractures, and helps manage posture and mobility
  • Occupational therapy: Supports independence in daily activities
  • Speech therapy: If speech or swallowing is affected
  • Assistive devices: Braces, standing frames, and wheelchairs
  • Nutritional support: To manage weight and swallowing issues
  • Psychological support: For both the child and family
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