Duchenne is a form of muscular dystrophy that causes progressive weakness and loss of skeletal, cardiac, and respiratory muscles due to lack – or low levels – of dystrophin. Dystrophin is a vital protein the body uses in the protection and maintenance of its muscles.
Duchenne is caused by a genetic mutation in the dystrophin gene (“DMD gene”) which provides the instructions for making the body’s dystrophin protein. This gene has 79 unique exons (sections) and each exon makes one piece of our body’s dystrophin protein. Due to a genetic mutation, some people with Duchenne are missing one or more exons from their DMD gene.
Duchenne muscular dystrophy affects mostly males and occurs in an estimated one in 3,600 to 9,300 newborn babies. Duchenne symptoms usually appear between the ages of 2 and 5. No ethnic group has a heightened risk for this type of muscular dystrophy.
Early signs of Duchenne may include delayed ability to sit, stand, or walk. There is a progressive loss of mobility and patients with Duchenne will eventually require the use of a wheelchair. Cardiac and respiratory muscle symptoms typically begin in the teenage years, but can appear sooner, and lead to serious, life-threatening complications.
Since people with Duchenne have little to no dystrophin, a treatment for their Duchenne would ideally raise their dystrophin levels. Exon-skipping therapy can potentially increase dystrophin in people with Duchenne. Other treatments may include:
For more information about Duchenne, please visit wespeakduchenne.com.
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i Johns Hopkins Medicine. Duchenne Muscular Dystrophy. Available at: https://www.hopkinsmedicine.org/health/conditions-and-diseases/duchenne-muscular-dystrophy.
ii Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 2014;24(6):482-491.
