
DUCHENNE IS A RARE DISEASE THAT WEAKENS MUSCLES
Duchenne muscular dystrophy (DMD) is a disorder in which patients are born with a gene mutation or defect that keeps their bodies from creating dystrophin, a protein that protects muscles from damage.1
Dystrophin works to protect muscles from injury
Dystrophin is a protein found in muscles and works with other proteins to make sure muscles are protected from injury as they expand and contract. Because patients affected by Duchenne have a mutation that affects the genetic structure of dystrophin, it isn't able to do its job properly. As a result, patients experience muscle weakening in their legs and arms. 2-4
BOYS ARE MORE LIKELY TO BE AFFECTED BY DUCHENNE
The dystrophin gene is carried by the X-chromosome. Girls have two X-chromosomes, so if one of the chromosomes is affected by the dystrophin mutation that causes DMD, they may not develop DMD symptoms. Girls who have one X-chromosome affected by a dystrophin mutation but do not have DMD symptoms are known as DMD carriers. 1,5
On the other hand, boys only have one X-chromosome which means if it is affected by a dystrophin mutation they do not have another X-chromosome to protect them from developing symptoms of DMD. This is why boys are more likely than girls to be affected by Duchenne. 1,5
It affects about 1 in 3,600 - 6,000 live male births. 6-9
1. Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77-93. 2. Signs and symptoms. Parent Project Muscular Dystrophy website. http://www.parentprojectmd.org/site/PageServer?pagename=Understand_about_signs. Accessed May 3, 2018. 3. DMD gene. U.S. National Library of Medicine website. https://ghr.nlm.nih.gov/gene/DMD. Accessed April 9, 2018. 4. Duchenne and Becker muscular dystrophy. U.S. National Library of Medicine website. https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy#genes. Accessed April 9, 2018. 5. Genetic causes. Parent Project Muscular Dystrophy website. https://www.parentprojectmd.org/about-duchenne/what-is-duchenne/genetic-causes. Accessed May 8, 2018. 6. Van Ruiten H, Straub V, Bushby K, et al. Improving recognition of Duchenne muscular dystrophy: a retrospective case note review. Arch Dis Child. 2014;99:1074-1077. 7. Goemans N, Kirschner J, Mercuri E. New perspectives in the management of Duchenne muscular dystrophy. European Neurological Review. 2014;9(1):78-82. 8. Mendell JR, Lloyd-Puryear M. Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy. Muscle Nerve. 2013;48(1):21-26. 9. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251-267.