摘要
目的报道1个眼咽远端型肌病家系的病理和电生理改变特点,分析其吞咽功能障碍的变化规律．方法先证者为24岁女性,出现进行性加重的眼外肌麻痹、吞咽困难、构音障碍及四肢远端无力和萎缩2年。肌酸激酶轻度升高。家族同代人中还有5例在20～30岁出现类似症状。对先证者进行纤维咽喉镜吞咽功能检查和肌电图检查,对胫前肌进行肌肉病理检查。结果纤维咽喉镜检查发现软腭上抬差,肌电图检查发现胫前肌呈现肌源性损害伴随肌强直现象。肌肉病理改变特点是肌纤维出现肥大、萎缩、间质纤维化,部分肌纤维内可见镶边空泡,电镜检查显示肌纤维的胞质内存在管丝包涵体。结论临床和病理检查证实眼咽远端型肌病的存在,软腭运动障碍是出现咽喉症状的主要原因,此病存在肌强直的电生理改变特点。
Objective Oculopharyngodistal myopathy is a rare hereditary muscular disorder characterized clinically by ophthalmoplegia, dysphagia, dysarthria and distal weakness of all limbs. Fibrolaryngoscopic findings and the pathological features of oculopharyngodistal myopathy of a Chinese family were reported in this article. Methods The proband developed ophthalmoplegia, dysphagia, distal weakness and atrophy in all extremities at the age of 22 years old. Her serum creatine kinase level was mildly elevated. There were other 5 patients with similar symptoms in the same generation, whose symptoms appeared firstly between 20 to 30 years old. Fibrolaryngoscopy, electromyography and pathological study were performed on the proband. Results Lifting inability of the soft palate was observed under fibrolaryngoscopy. Myopathic pattern with myotonic discharge was demonstrated on EMG. The main myopathological changes were variation of fiber size, rimmed vacuoles in muscle fibers and interstitial fibrosis. Ultrastructural examination revealed numerous subsarcolemmal tubulofilamentous inclusions. Conclusions According to the clinical and myopathological features, oculopharyngodistal myopathy is considered. The involvement of soft palate is the main reason for dysphagia. Myotonic discharge can appeare in oculopharyngodistal myopathy.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2006年第8期516-519,共4页
Chinese Journal of Neurology
关键词
肌骨骼疾病
吞咽障碍
电生理学
Musculoskeletal disease
Deglutition disorders
Electrophysiology
