There has been controversy whether oculopharyngodistal myopathy (OPDM) commonly seen in Japan is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (OPMD) initially described in French-Canadians and has since been reported in other ethnic groups. Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that most of the former usually have distal as opposed to proximal weakness and most of them are genetically different from the latter. The authors report here the clinical and pathological changes in a Chinese family with OPDM. The main clinical features were ptosis, non-variable ophthalmoplegia, dysphagia, weakness and atrophy of facial and distal limb muscles. Serum CK activity was elevated and EMG showed myopathic changes with myotonic discharges. The main pathological changes included muscle fibre atrophy and hypertrophy, mild to moderate connective tissue proliferation, rimmed vacuoles within muscle fibres and tubular filament inclusions. Intranuclear tubulofilamentous inclusions with a diameter of approximately 20nm were also observed in the proband. The presence of these nuclear inclusions as an occasional phenomenon in OPMD warrants further investigation.

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