OCULOPHARYNGODISTAL MYOPATHY - REPORT OF 4 FAMILIES
OCULOPHARYNGODISTAL MYOPATHY - REPORT OF 4 FAMILIES
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DOI：
10.1001/archneur.1977.00500140043007
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发表时间：
1977-01-01
影响因子：
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通讯作者：
KINOSHITA, M
中科院分区：
文献类型：
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作者：
SATOYOSHI, E;KINOSHITA, M
一种常染色体显性遗传性家族性肌病，包括缓慢进行性上睑下垂和眼外瘫痪，咬肌、面部和延髓肌肉无力，以及从40岁或更晚开始的四肢远端受累。未观察到其他神经系统症状或其他器官或组织的紊乱。1例尸检显示中枢和外周神经系统无明显改变，所有患者的肌肉活检标本均为肌病样，无任何特殊改变。提出了一个描述性的术语，眼咽远端肌病，以区分本病和其他眼部肌病。
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 yr of age or later. No other neurological symptoms or disturbances of other organs or tissues were observed. In 1 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.