vöðvasjúkdóma

Vöðvasjúkdómar, also known as muscular dystrophies, are a group of genetic diseases that cause progressive weakness and loss of muscle mass. These conditions result from inherited defects in genes that produce proteins essential for muscle function. The affected muscles gradually degenerate and are replaced by fatty and fibrous tissue, leading to increasing disability.

There are many different types of muscular dystrophies, varying in the age of onset, muscles affected, and severity. Duchenne muscular dystrophy and Becker muscular dystrophy are among the most common forms, affecting primarily males. Limb-girdle muscular dystrophies affect muscles in the shoulders and hips. Myotonic dystrophy is characterized by prolonged muscle spasms and can affect other organs. Congenital muscular dystrophies are present at birth.

Symptoms can include difficulty with motor skills, such as walking, standing, or sitting up, as well as muscle pain and stiffness. In some cases, heart problems and respiratory issues can also arise. Diagnosis typically involves a physical examination, genetic testing, and sometimes muscle biopsy or electromyography.

Currently, there is no cure for most types of muscular dystrophy. Treatment focuses on managing symptoms, maintaining mobility, and preventing complications. This may include physical therapy, occupational therapy, medications to manage pain or heart problems, and assistive devices like wheelchairs. Research is ongoing to develop effective therapies and potential treatments for these debilitating conditions.