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Rare diseases: Duchenne Muscular Dystrophy

Duchenne muscular dystrophy, a rare inherited muscle disorder characterized by progressive muscle weakness and degeneration that leads to difficulties walking and reduces life expectancy. It is a single gene disorder that is caused by genetic changes in the DMD gene. Our latest infographic is all about Duchenne muscular dystrophy, and it includes facts about the DMD gene and information on the disease symptoms and current treatment, as well as summarizing promising research into future treatments.

You can learn more about Duchenne muscular dystrophy and genetic testing for this and other muscular disorders here.

Topics covered in this infographic:

  • What causes Duchenne muscular dystrophy?
  • The DMD gene
  • Dystrophin
  • Why does it affect mostly men?
  • Symptoms
  • Genetic testing
  • Disease management and treatment
  • Research and development
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References

This infographic was compiled used information from the following sources:

MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); [updated 2020 Jun 24]. DMD gene; [updated 1 Jul. 2017]. Available from: https://medlineplus.gov/genetics/gene/dmd/#conditions. Accessed 11 Jan. 2023.

“Is it Duchenne. Genetic Testing.” Parent Project Muscular Dystrophy, https://www.parentprojectmd.org/about-duchenne/is-it-duchenne/genetic-testing/. Accessed 11 Jan. 2023.

“Duchenne Muscular Dystrophy” NIH National Center for Advancing Translational Sciences GARD; Genetic and Rare Diseases Information Center, last updated Feb. 2023, https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy. Accessed 11 Jan. 2023.

“Duchenne muscular dystrophy.” orphanet, last updated Jun. 2020, https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=13913&MISSING%20CONTENT=Duchenne-muscular-dystrophy&search=Disease_Search_Simple&title=Duchenne%20muscular%20dystrophy. Accessed 11 Jan. 2023.

“Duchenne muscular dystrophy.” NORD, National Organization for Rare Diseases, last updated 28 June 2023, https://rarediseases.org/rare-diseases/duchenne-muscular-dystrophy/. Accessed 11 Jan. 2023.

“About Duchenne.” Sarepta Therapeutics. Duchenne.com, https://www.duchenne.com/understanding-duchenne/about-duchenne. Accessed 11 Jan. 2023.

“Duchenne Muscular Dystrophy (DMD).” Muscular Dystrophy Association, https://www.mda.org/disease/duchenne-muscular-dystrophy. Accessed 11 Jan. 2023.

“Exon-skipping therapies.” Muscular Dystrophy News Today, last updated 28 Jun. 2023, Exon-skipping therapies https://musculardystrophynews.com/exon-skipping-for-duchenne-muscular-dystrophy/. Accessed 11 Jan. 2023.

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