What Happens When There is a Deficiency of Dystrophin?
A deficiency or absence of dystrophin leads to severe muscle disorders, the most notable being Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). In DMD, the lack of functional dystrophin results in progressive muscle weakness and degeneration, often leading to loss of ambulation and severe respiratory and cardiac complications. BMD, on the other hand, is caused by mutations that allow for some functional dystrophin, resulting in a milder phenotype compared to DMD.
