Duchenne Muscular Dystrophy
About duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder characterised by progressive muscle weakness and wasting1. It is caused by mutations in the dystrophin gene on the X-chromosome which result in an absence of the dystrophin protein1, a protein that helps keep muscle cells intact2.
It is the most prevalent neuromuscular disorder, affecting up to 1 out of 3,600 male births worldwide1. Symptoms usually appear during in early childhood, between the ages 3 and 5. The disease primarily affects boys, but can also affect girls as well2, although this is quite rare. The standard therapy that can delay DMD progression is based on corticosteroids. The two mainly used in DMD are deflazacort and prednisone/prednisolone1,3.
1. Duchenne Muscular Dystrophy: From Diagnosis to Therapy
Falzarano, M.S. et al., Molecules, 2015.
2. Duchenne Muscular Dystrophy (DMD)
MDA, cited on 13/03/2018.
3. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
Bushby, K. et al.,The Lancet, 2010.