Duchenne Muscular Dystrophy

Characteristics

Duchenne muscular dystrophy is one of the most common hereditary muscle disorders, almost exclusively affecting boys. The disease causes progressive muscle degeneration and weakness, with symptoms typically appearing at a very young age and worsening over time. Eventually, the disease impacts the heart and respiratory system, making it fatal. Advances in care have improved life expectancy, but a cure remains elusive.

Some boys with Duchenne may also experience intellectual disabilities or learning difficulties, such as dyslexia or attention disorders. Autism, ADHD, and epilepsy are also more prevalent in this group.

Cause

Duchenne muscular dystrophy is caused by the absence of dystrophin, a protein that protects muscle fibers from damage during movement. Dystrophin is also found in various forms in the brain, though its function there is not well understood. The defect in dystrophin production is due to a mutation on the X chromosome, explaining why the disease predominantly affects boys, who have only one X chromosome. Girls, with two X chromosomes, are rarely affected.

Treatment

While Duchenne muscular dystrophy cannot be cured, effective treatment can improve quality of life and prognosis:

• Medications:
  • Corticosteroids to slow muscle strength decline
  • Drugs to prevent bone loss
  • Cardiac medications if heart function deteriorates
• Respiratory Support: Older children and adults may require assistance with breathing.
• Orthopedic Care: Foot or spinal deformities can be corrected by an orthopedic surgeon.
• Physiotherapy: Maintains muscle function, prevents joint and muscle contractures, and promotes mobility.
• Behavioral and Learning Support: Early identification and management of behavioral and learning challenges, such as ADHD or dyslexia, are crucial.

A multidisciplinary approach is essential for optimal care, requiring close collaboration between pediatric and adult specialists, including neurologists, cardiologists, respiratory therapists, physiotherapists, and educators.

Key Considerations:

• Early Diagnosis: Timely intervention can slow disease progression and address associated complications.
• Comprehensive Care: Multidisciplinary management is vital for addressing the physical, cognitive, and emotional challenges of the disease.
• Family Support: Caregiver and family guidance is critical to navigate the complex and evolving needs of patients.