Duchenne Muscular Dystrophy

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What is it?

  • Inherited genetic condition
  • Muscles weaken which leads to disability 
  • Progressive condition and worsens over time
  • Duchenne is the most common and the most severe
  • Inherited on the female faulty gene and passed only to male offspring
  • Genetic mutation on the X chromosome preventing the body from producing the muscle protein dystrophin
  • Caused by changes in the genes responsible for the structure and functioning of a person's muscles
  • This causes changes to muscle fibres that interfere with their ability to function 
  • 1 in 3500 boys in the UK
  • Usually diagnosed around 5 years 
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Symptoms

  • Impact on gross motor movements 
  • Health problems with heart and lungs
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Treatment

  • Steroids to help strengthen muscles 
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