Salvesen R, Brautaset N J
Nordland Sentralsykehus, Bode, Norway.
Acta Neurol Scand. 1996 Apr;93(4):281-5. doi: 10.1111/j.1600-0404.1996.tb00521.x.
Oculopharyngeal muscular dystrophy was first described by Taylor in 1915. A substantial number of cases have been reported from North America, the disorder being most frequent in Quebec, Canada.
The onset of disease is in middle life, most often presenting with ptosis and a slight degree of ophthalmoplegia, followed some years later by dysphagia and often by proximal limb weakness. The course is slowly progressive, but the dysphagia may become severe and has caused death by starvation in several cases. The disorder is transmitted autosomally dominant in families.
The present report describes a large Norwegian family with 13 affected members of whom we have examined eight. Transmission is autosomally dominant, mode of presentation may be either by ptosis or by dysphagia. In rare cases gait difficulties may be the presenting symptom.
Electromyographic and muscle biopsy examinations demonstrate a primary myogenic disorder.
眼咽型肌营养不良症于1915年由泰勒首次描述。北美已报告了大量病例，该疾病在加拿大魁北克最为常见。
疾病发病于中年，最常表现为上睑下垂和轻度眼肌麻痹，数年后出现吞咽困难，常伴有近端肢体无力。病程呈缓慢进行性，但吞咽困难可能会变得严重，在一些病例中已导致饿死。该疾病在家族中呈常染色体显性遗传。
本报告描述了一个有13名受累成员的挪威大家族，我们检查了其中8人。遗传方式为常染色体显性遗传，表现形式可能是上睑下垂或吞咽困难。在罕见情况下，步态困难可能是首发症状。
肌电图和肌肉活检检查显示为原发性肌源性疾病。
