Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. The gene discussed is DAG1; the disease is neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.