Advances in Pathophysiology of Dystroglycanopathies and Its Treatment Strategies

Dystroglycanopathy is a group of muscular dystrophy caused by abnormal glycosylation of dystroglycan. Dystroglycan is a cell membrane receptor of basement membrane molecules and synaptic molecules. The sugar chain abnormalities result in the disrup-tion of dystroglycan-mediated linkage between the basement and cell membrane in the skeletal muscle. The sugar chain structure and modifying enzymes of dystroglycan have recently been identified, and the pathophysiological significance of dystroglycan sugar chains in various tissues has also been clarified. This mini-review introduces the latest findings on the mechanisms of dystrogly-canopathy and the development of various treatment strategies.