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World Duchenne Awareness Day

September 7th we are celebrating the International Day of Raising Awareness of Duchenne Muscular Dystrophy (DMD). DMD is a severe progressive and rare genetically conditioned disease that occurs in childhood, most often in boys.1-4

Milestones since the rare disease was detected

Disease is named after the neurologist Guillaume-Benjamin Duchenne who first described and published the signs and symptoms of DMD in 1868.5

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The most common serious genetic disorder in children6

Duchenne is characterised by progressive muscle degeneration with subsequent respiratory and cardiac failure, leading to early death. It is estimated that there are 7,000 patients in the world with a nonsensical DMD mutation, affecting about one in every 3500-5000 newborn boys. Nonsense mutations are changes in the genetic code which make it possible to stop the assembly of protein from amino acids too quickly (in the case of DMD this is dystrophin). Disease advances progressively, by the time of adolescence boys usually need a wheel chair.1-4

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Join us in rasing awareness about the Duchenne 

Early detection of the disease is very important, as it progresses slowly with timely treatment. Awareness and support start with knowledge and information, only this way can we help the DMD patients and their families.2-4,7

 

Links:

Reference:

1. McDonald CM, et al. Muscle Nerve. 2013;48:343–356; 2. Goemans N, et al. Eur Neurol Rev. 2014;9:78–82; 3. Van Ruiten HJ, et al. Arch Dis Child. 2014;99:1074–1077; 4. Bushby K, et al. Lancet Neurol. 2010;9:77–93; 5. Duchenne GB. Recherches sur la paralysie musculaire pseudo-hypertrophique ou paralysie myosclerosique. Arch Gen Med. 1868;11:5,178,305,421,552; 6. Parent Project Muscular Dystrophy. About Duchenne. Available at: http://join.parentprojectmd.org/site/PageServer?pagename=understand_about  [accessed August 2018]. 

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