Satoyoshi E, Kinoshita M
Arch Neurol. 1977 Feb;34(2):89-92. doi: 10.1001/archneur.1977.00500140043007.
An autosomal dominant, heredofamilial myopathy consisted of slowly progressive ptosis and extraocular palsy, and weakness of the masseter, facial, and bulbar muscles, as well as distal involvement of the limbs starting around 40 years of age or later. No other neurological symptoms or disturbances of other organs or tissues were observed. In one case, autopsy disclosed no remarkable change in the central and peripheral nervous system, and muscle biopsy specimens from all patients showed myopathic patterns without any specific change. A descriptive term, "oculopharyngodistal myopathy," was proposed to separate the present illness from other ocular myopathies.
一种常染色体显性遗传性家族性肌病，表现为缓慢进展的上睑下垂和眼外肌麻痹，咬肌、面部肌肉和延髓肌无力，以及40岁左右或更晚开始出现的肢体远端受累。未观察到其他神经系统症状或其他器官或组织的功能障碍。在1例病例中，尸检显示中枢和周围神经系统无明显变化，所有患者的肌肉活检标本均显示肌病模式，无任何特异性改变。提出了一个描述性术语“眼咽远端肌病”，以将本病与其他眼肌病区分开来。
