Duchenne Muscular Dystrophy Rapid Muscle Degeneration In Children

Duchenne Muscular Dystrophy Rapid Muscle Degeneration In Children

Duchenne Muscular Dystrophy (DMD) is a severe form of muscular dystrophy characterized by rapid progression of muscle degeneration, leading to loss of ambulation and other complications. It primarily affects boys, though girls can be carriers and occasionally manifest symptoms.  

  • Genetic Mutation: DMD is caused by mutations in the DMD gene, which encodes the protein dystrophin. Dystrophin is essential for muscle fiber integrity.
  • Inheritance: DMD is an X-linked recessive disorder, meaning the defective gene is located on the X chromosome. Boys (with one X and one Y chromosome) are primarily affected, while girls (with two X chromosomes) can be carriers and are less commonly affected. 


  • Early Signs: Symptoms usually appear between ages 2 and 5.
  • Delay in motor milestones (e.g., sitting, standing, walking)
  • Difficulty running, jumping, and climbing stairs.
  • Frequent falls, large calf muscles (pseudohypertrophy)
  • Walking on toes or with a waddling gait (like ducks) 


  • By age 12, most children with DMD will need a wheelchair.
  • Progressive muscle weakness and wasting affect the arms, legs, and trunk.
  • Scoliosis (curvature of the spine) may develop.
  • Respiratory and cardiac Issues: As muscles weaken, respiratory and cardiac complications
  • Difficulty breathing, leading to the need for ventilatory support.
  • Heart muscle weakness 

Content credentials -Generated with AI ∙ July 2, 2024 at 6:26 AM 

Author: Sumana Rao | Posted on: July 3, 2024

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