Q 2.30. Progressive Muscular Dystrophy (MD)

Overview of Progressive Muscular Dystrophy:

Muscular dystrophy (MD) encompasses a group of genetic disorders characterized by progressive muscle weakness and loss of muscle mass. These conditions result from mutations in genes responsible for essential muscle proteins, such as dystrophin. The two most common forms of MD are:

  1. Duchenne Muscular Dystrophy (DMD):

    • X-linked recessive condition, primarily affecting males.
    • Delayed motor milestones, including independent walking.
    • Progressive weakness, starting proximally (trunk and pelvis) and moving distally (legs and arms).
    • Calf pseudohypertrophy (enlargement) due to fatty infiltration.
    • Waddling gait and an inability to run or jump.
    • Wheelchair dependence by around age 12.
    • Creatine kinase (CK) levels elevated.
    • Respiratory involvement: May require ventilatory support eventually.
  2. Becker Muscular Dystrophy (BMD):

    • Similar to DMD but with a milder course and later onset.
    • Dystrophin production is partially functional.
    • Slower progression and longer life expectancy compared to DMD.

Treatment Strategies:

  1. Medications:

    • Steroids (e.g., prednisone) may help preserve muscle function and delay disease progression in DMD.
    • Other medications target specific symptoms (e.g., cardiac medications for cardiomyopathy).
  2. Physical and Occupational Therapy:

    • Maintain muscle strength and prevent contractures.
    • Assistive devices (e.g., braces, orthotics) to enhance mobility.
  3. Surgical Interventions:

    • Tendon release surgery to manage contractures.
    • Spinal fusion for scoliosis (common in DMD).
  4. Respiratory Support:

    • Breathing assistance devices (ventilators) may be necessary.
    • Initially used at night, but daytime use may become essential as the disease progresses.
    • Regular assessments of respiratory function are crucial.
  5. Psychosocial Support:

    • Address emotional and behavioral challenges.
    • Collaborate with psychologists and social workers.

Remember that early diagnosis, multidisciplinary care, and family support play pivotal roles in managing progressive muscular dystrophy. As medical students, understanding these key aspects will prepare you to provide comprehensive care to affected individuals.


1 geekymedics.com

2 mayoclinic.org

3 uptodate.com

4 musculardystrophyuk.org

Verified by Dr. Petya Stefanova