Limb-girdle muscular dystrophies
Limb girdle muscular dystrophy (LGMD) is a genetically inherited condition that primarily affects skeletal muscle leading to progressive, predominantly proximal muscle weakness at presentation caused by a loss of muscle fibers. To be considered a form of LGMD the condition must be described in at least 2 unrelated families with affected individuals achieving independent walking, must have an elevated serum creatine kinase activity, must demonstrate degenerative changes on muscle imaging over the course of the disease, and have dystrophic changes on muscle histology, ultimately leading to end-stage pathology for the most affected muscles.
Jun. 21, 2021