Pratt M F, Meyers P K
Laryngoscope. 1986 Apr;96(4):368-73. doi: 10.1288/00005537-198604000-00006.
Oculopharyngeal muscular dystrophy is a rare, autosomal dominant disorder which has been traced through 11 generations of a French Canadian family. The classic presenting complaints are palpebral ptosis and oropharyngeal dysphagia. The dysphagia is usually progressive and leads to repetitive regurgitation, increased alimentation time, and weight loss. Immunologic studies generally reveal elevated levels of IgA and IgG, while manometry demonstrates poor pharyngeal contraction. The dysphagia is frequently relieved by cricopharyngeal myotomy. We present two case reports and also a new ultrastructural finding of abnormal metallic mitochondrial inclusions. This finding has not been previously described in this disorder.
眼咽型肌营养不良症是一种罕见的常染色体显性疾病，已在一个法裔加拿大家庭中追踪了11代。典型的临床表现为上睑下垂和口咽吞咽困难。吞咽困难通常呈进行性发展，导致反复反流、进食时间延长和体重减轻。免疫学研究一般显示IgA和IgG水平升高，而食管测压显示咽部收缩功能不佳。环咽肌切开术常可缓解吞咽困难。我们报告了两例病例，并展示了一种新的超微结构发现，即异常的金属性线粒体包涵体。这一发现此前在该疾病中尚未有过描述。
