[Review] Clinical presentations and pathophysiological mechanisms of dystroglycanopathy: advancing therapeutic strategies

Dystroglycanopathies are muscular dystrophies with varying severity, ranging from congenital onset to adult-onset limb-girdle muscular dystrophy. The disease is caused by loss of function of α-dystroglycan, a cell-surface protein required for the formation and function of various muscle and non-muscle tissues. In severe cases, patients suffer from muscle weakness and cardiac involvement. Additionally, structural abnormalities in the eyes and central nervous system occur, leading to intellectual disability and epilepsy.