dystrophinrelated

Dystrophin-related refers to a group of genetic disorders that affect muscle strength and function. These conditions are caused by mutations in the DMD gene, which provides instructions for making dystrophin. Dystrophin is a protein that plays a critical role in maintaining the structure of muscle cells, particularly in skeletal muscle, which is responsible for voluntary movement. It acts as a link between the muscle cell's internal cytoskeleton and the external environment, helping to protect the cell from damage during muscle contraction.

When the DMD gene is mutated, the body may produce little or no functional dystrophin, or it may produce a shortened, non-functional version. This deficiency leads to progressive muscle weakness and degeneration. The most common and severe form is Duchenne muscular dystrophy (DMD), characterized by rapid muscle deterioration beginning in early childhood. Another related condition is Becker muscular dystrophy (BMD), which is generally milder and has a later onset, caused by the production of a partially functional dystrophin protein. Other, less common dystrophinopathies also exist. Symptoms typically include difficulty with walking, running, and climbing stairs, as well as potential involvement of cardiac and respiratory muscles in more severe cases. Diagnosis usually involves genetic testing, muscle biopsy, and clinical evaluation. While there is currently no cure, treatments focus on managing symptoms, improving quality of life, and slowing disease progression.