Rare Disease Report

Duchenne Muscular Dystrophy - Rare Disease Quick Facts

JULY 18, 2013

Duchenne muscular dystrophy is a fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births (about 20,000 new cases each year). Duchenne can also occur in females but it is not as common since the condition is due to a mutation of a gene on the X-chromosome (females have two X-chromosomes so the odds of having mutations on both is extremely rare). 


  • Duchenne is caused by a mutation in the gene that encodes for dystrophin, a protein that helps maintain muscle cell structure. Without dystrophin, muscles are unable to operate properly, suffer progressive damage and die
  • The progressive muscle weakness leads to serious medical problems (cardiac and respiratory). Young men with Duchenne typically do not live past their twenties
  • There are several mutations of the dystrophin gene that can lead to Duchenne
  • The dystrophin gene is carried on the X-chromosome. Girls have two X-chromosomes so if one has a mutated dystrophin gene the other chromosome can compensate. The same is not true for boys
  • Duchenne is thought to be passed from parent to child but many cases occur in families without a history of Duchenne.

Early Phase (diagnosis to age 7)

  • Move slower and appear clumsy. Difficulty climbing, jumping, running
  • Fatigues easily
  • Some muscles (in particular his calves) may appear enlarged or overdeveloped
  • Learning difficulties and slower development

Transitional Phase (ages 6 to 9)

  • Walk on the balls of his feet or toes to help stay balanced
  • May stick out belly and throw shoulders back as he walks
  • “Gower maneuver”
  • Fatigues easily. May require a stroller, lightweight wheelchair, or electric scooter for longer distances

Loss of Ambulation (ages 10 to 14)

  • Rapid deterioration of walking ability occurs during this stage
  • Activities involving the arms, legs, or trunk will require assistance or mechanical support
  • Scoliosis
  • Fatigues easily

Adult Stage (ages 15+)

  • Life-threatening heart and respiratory conditions more prevalent (shortness of breath, fluid in the lungs, swelling in the feet and lower legs, enlarged heart)


  • There is no known cure for Duchenne muscular dystrophy and current treatment is centered on making the patient more comfortable and/or deter muscle weakness progression (steroids, assisted ventilation, cardiac medications, physical and speech therapy). 

Orphan Drugs

  • There are currently no orphan drugs approved for treating Duchenne. However, there are currently 27 orphan drugs designated for treating Duchenne. 
  • 4 drugs that are currently ending phase 2 or starting phase 3 studies include:

Advocacy groups (there are several - below are some of the bigger groups)


image of mucsle cell courtesy of wikimedia commons.

Stay informed on the latest rare disease news and developments by signing up for our newsletter.
Copyright © RareDR 2013-2019 Rare Disease Communications. All Rights Reserved.