Oculopharyngodistal myopathy in three unrelated Korean patients: Early distal limb weakness is a characteristic finding in oculopharyngodistal myopathy

摘要

Objectives: To determine the clinical characteristics of Korean patients with sporadic oculopharyngodistal myopathy. Methods: Three consecutive unrelated Korean patients with sporadic oculopharyngodistal myopathy participated in this study. Stepwise approaches were performed including careful clinical examination, electrophysiological study, pathology evaluation and genetic study. The literature on oculopharyngodistal myopathy was reviewed. Results: Clinically, our patients showed consistent features of initial distal limb weakness with variable ophthalmoplegia, bulbar weakness or proximal weakness. All the patients showed rimmed vacuoles and myopathic changes. Conclusion: Through the literature review and this study, we believe that initial distal limb weakness is a characteristic finding in patients with oculopharyngodistal myopathy in some ethnic groups.