What is it?

Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that affects the muscles, leading to muscle wasting that progresses over time.1

What causes it?

Duchenne is caused by a mutation (change) in the DMD gene, which provides instructions for making a protein called dystrophin. Mutations in the gene prevent muscle cells in the body from producing dystrophin, causing muscle weakness and heart problems.1

What are some of the common symptoms?2

  • Delayed motor development (taking longer to learn to sit, stand, or walk)
  • Enlarged calf muscles (pseudohypertrophy)
  • Muscle weakness
  • Toe walking or waddling gait
  • Using hands to get up off the floor (Gower’s maneuver)
  • Progressive enlargement of heart (cardiomyopathy)
  • Breathing problems

How many people have it?

Duchenne affects an estimated 16 live male births per 100,000 in the U.S.2

Common Names for DMD1

  • Duchenne/Becker muscular dystrophy
  • DBMD
  • Psyeudohypertrophic muscular dystrophy

1Duchenne and Becker muscular dystrophy. Nation Institutes of Health: MedlinePlus Website. https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy/. Accessed January 6, 2021.

2Duchenne muscular dystrophy. Nation Institutes of Health: Genetic and Rare Diseases Information Center website. https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy. Accessed January 6, 2021.

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