Oculopharyngeal muscular dystrophy (OPMD) is a rare inherited myopathy with an autosomal dominant pattern of transmission. Typical clinical signs are bilateral ptosis, progressive dysphagia and proximal muscular weakness. Histological findings include autophagic vacuoles and intranuclear inclusions in muscle tissue. The diagnosis can be confirmed by genetic analysis showing a mutation in the PABP-2 gene on chromozome 14 with an expansion of GCG triplets. We report the case of a patient with a typical clinical picture, autophagic vacuoles in a muscle biopsy and subsequent genetic verification. By our means this is the first observation of this disease in the Czech Republic.

        Key words: oculopharyngeal myopathy, muscle, triplet expansion