What causes Duchenne muscular dystrophy?
Duchenne muscular dystrophy (DMD) is caused by a lack of dystrophin.1,2
In DMD, a gene change (mutation) prevents the body from producing enough dystrophin.1–3 Dystrophin acts as a shock absorber or stabiliser for muscles.4
How lack of dystrophin leads to the symptoms of DMD
If the body does not have enough dystrophin, muscle cells become more sensitive to damage and deteriorate over time.3
The injured muscles are gradually replaced with fat and scar tissue.3,5
The lack of dystrophin and resulting loss of muscle lead to the symptoms of DMD.1,2
1. Goemans N, et al. Eur Neurol Rev. 2014;9:78–82.
2. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].
3. Muscular Dystrophy Association. Duchenne muscular dystrophy (DMD). Available at https://www.mda.org/disease/duchenne-muscular-dystrophy/research [last accessed March 2021].
4. Houang EM, et al. Skelet Muscle. 2018;8(1):31.
5. Amato AA, Brown RH Jr. Muscular dystrophies and other muscle diseases. In: Longo DL, et al., editors. Harrison’s principles of internal medicine. 19th edition.