Duchennevöðvarýrnun
Duchennevöðvarýrnun is the Icelandic term for Duchenne muscular dystrophy (DMD). This is a severe, progressive genetic disorder that primarily affects males. It is characterized by the degeneration of muscles and loss of muscle mass. DMD is caused by mutations in the DMD gene, which provides instructions for making a protein called dystrophin. Dystrophin is crucial for the structural integrity of muscles. Without sufficient functional dystrophin, muscle fibers become damaged and eventually die, replaced by fibrous and fatty tissue.
The symptoms of Duchenne muscular dystrophy typically begin to appear in early childhood, usually between the
Diagnosis is usually made based on clinical symptoms, a physical examination, blood tests to measure creatine