The diagnosis of DMD often involves a combination of clinical evaluation, genetic testing, and histological analysis. Muscle biopsy is a critical component. Under the microscope, pathologists look for the characteristic histological changes such as muscle fiber necrosis, fibrosis, and fatty infiltration. Immunohistochemistry can be used to assess the presence and localization of the dystrophin protein. In DMD patients, dystrophin is either absent or significantly reduced.
