Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease manifesting with progressive ocular, bulbar, and predominantly distal limb weakness. Muscle pathology is characterized by the presence of rimmed vacuoles and small angular fibers. To date, LRP12, GIPC1, NOTCH2NLC, and RILPL1 have been reported as the causative genes for OPDM, with the subtypes categorized according to each gene. The clinicopathological and genetic features (triplet repeats in 5′ untranslated region) are similar among all OPDM subtypes, suggesting a comparable pathogenesis among them. Several studies have demonstrated the possible pathomechanism of OPDM, such as protein/RNA gain‐of‐function theories. In this review, we summarized the recent advances in the molecular mechanism, clinicopathological findings, and management of the disease. [ABSTRACT FROM AUTHOR]