论文部分内容阅读
眼咽肌营养不良是一罕见的常染色体显性遗传病,已在一法裔加拿大家族中追溯达11代人。此症首由Taylor(1915)报道。典型症状为进行性上睑下垂和吞咽困难,免疫学检查一般均示IgA、IgG水平升高,测压法检查示咽肌收缩减弱。病因未明,但研究证明其产生系基于原发性骨胳肌变性。超微结构研究已发现线粒体异常,有“指纹状”包涵体,还有人发现有丝状核包涵体。行环咽肌切断术可有效地治疗吞咽困难。
Opiopharyngeal muscular dystrophy is a rare autosomal dominant genetic disorder that has been traced back to 11 generations in a Canadiens Canadian family. The first symptom was reported by Taylor (1915). Typical symptoms of progressive ptosis and swallowing difficulties, immunological tests generally show IgA, IgG levels increased, manometry showed systolic pharyngeal muscle weakening. Etiology is unknown, but studies have shown that its production is based on primary skeletal muscle degeneration. Ultrastructural studies have found mitochondrial abnormalities with “fingerprinted” inclusions and others found with filamentous nuclear inclusions. Circumferential pharyngeal muscle resection can effectively treat dysphagia.