Muscular dystrophy (MD) is a group of genetic disorders that cause progressive muscle weakness and degeneration. The condition primarily affects skeletal muscles, which are responsible for voluntary movement, but it can also affect smooth and cardiac muscles. MD is caused by mutations in genes that are responsible for producing proteins needed for normal muscle function.
The most common type of MD is Duchenne muscular dystrophy (DMD), which affects primarily boys and typically presents in early childhood. DMD is caused by a mutation in the gene that produces dystrophin, a protein that helps maintain the structure of muscle fibers. Without dystrophin, muscle fibers become damaged and eventually die, leading to progressive muscle weakness and disability.
Other types of MD include Becker muscular dystrophy (BMD), which is similar to DMD but less severe, and different less common types such as limb-girdle muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy.
There is no cure for MD, but treatments such as physical therapy, medications, and assistive devices can help manage symptoms and improve quality of life. Research is ongoing to develop a new treatment, including gene therapy and other approaches to restore or replace the missing or defective proteins that cause the condition.