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.