Oculopharyngodistal myopathy with early onset and neurogenic features.
Some clinical variants of oculopharyngeal dystrophy are known; a rare form is described in this article: the early-adult form of oculopharyngodistal myopathy. The diagnosis was made in 2 patients ((brother and sister) on the grounds of extensive clinical, biochemical and morphological (microscopical, histochemical and submicroscopical) investigations. Although oculopharyngeal dystrophy is generally considered to be a purely myogenic condition, in one of our patients some neurogenic indications were found (EMG and biopsy). The general picture, however, was that of a myopathy with the characteristic morphological signs of oculopharyngeal dystrophy in the skeletal musclebiopsy.
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000175:diagnosis / Q000473:pathology*; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000473:pathology*; D013577:Syndrome