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 ages of 2 and 3. Early signs often include delayed motor milestones such as walking, difficulty running or jumping, and frequent falls. As the disease progresses, muscle weakness spreads, affecting the limbs, trunk, and neck. This can lead to significant mobility issues, often requiring the use of a wheelchair by adolescence. Other complications can include scoliosis (curvature of the spine), breathing difficulties due to weakened respiratory muscles, and heart problems because the heart is also a muscle.

Diagnosis is usually made based on clinical symptoms, a physical examination, blood tests to measure creatine kinase levels (which are significantly elevated in DMD), and genetic testing to identify the specific mutation in the DMD gene. There is currently no cure for Duchenne muscular dystrophy. Treatment focuses on managing symptoms and improving quality of life. This includes physical therapy to maintain muscle function, respiratory support, cardiac monitoring and treatment, and medications such as corticosteroids which can help slow muscle degeneration. Research into gene therapy and other novel treatments is ongoing.