dystrophiák

Dystrophies are a group of genetic disorders characterized by progressive muscle weakness and wasting. These conditions are caused by mutations in genes that encode proteins involved in muscle structure and function. The term "dystrophy" comes from the Greek words "dys" meaning bad, and "trophos" meaning nourishment, reflecting the poor muscle development and maintenance seen in these disorders.

Duchenne muscular dystrophy (DMD) is the most common and severe form of dystrophy, primarily affecting boys. It is caused by mutations in the dystrophin gene, leading to a lack of dystrophin protein in muscles. This results in muscle damage, inflammation, and eventual replacement with fat and fibrous tissue. Symptoms typically begin between the ages of 3 and 5, with progressive weakness and wasting of the legs, leading to difficulty walking and eventually loss of ambulation.

Becker muscular dystrophy (BMD) is a milder form of dystrophy, also caused by mutations in the dystrophin gene. It is more common in boys than girls and can be diagnosed in infancy. Symptoms are similar to DMD but progress more slowly, and some individuals may never develop significant weakness.

Other types of dystrophies include limb-girdle muscular dystrophy (LGMD), facioscapulohumeral muscular dystrophy (FSHD), and myotonic dystrophy. These conditions have varying presentations, onsets, and severities, but all share the common features of progressive muscle weakness and wasting.

Dystrophies are typically diagnosed through genetic testing, muscle biopsy, or electromyography. There is no cure for dystrophies, but treatments aim to manage symptoms, slow disease progression, and improve quality of life. These may include physical therapy, medications, and, in some cases, gene therapy or stem cell therapy. Supportive care, including respiratory assistance and orthopedic interventions, may also be necessary as the disease progresses.