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目的:探讨眼咽远端型肌病(OPDM)的临床表现、肌肉病理和分子遗传学特征。方法:报道1例临床疑似OPDM患者的临床和肌肉病理资料,对患者及其亲属共3名行多聚腺嘌呤结合蛋白核1(pabpn1)基因突变分析,并结合文献报道病例予以比较。结果:患者24岁起病,表现双侧眼外肌麻痹、声音嘶哑。肌肉病理显示个别肌纤维萎缩为主的肌源性损害,pabpn1基因检测无异常GCG重复序列扩增。结论:OPDM起病早,早期仅表现眼外肌及咽喉肌群麻痹,pabpn1基因GCG重复序列无异常扩增。
Objective: To investigate the clinical manifestations, muscle pathology and molecular genetics of ocular pharyngeal distal myopathy (OPDM). Methods: The clinical and muscle pathological data of 1 patient with suspected OPDM were reported. Mutations of pabpn1 gene in 3 patients and their relatives were analyzed and compared with those reported in the literature. Results: The patient onset at 24 years of age showed bilateral extraocular muscle paralysis, hoarseness. Muscle pathology showed muscle fiber atrophy-based myogenic damage, pabpn1 gene detection no abnormal GCG repeat amplification. CONCLUSIONS: Early and early stages of OPDM showed only paralysis of extraocular muscles and pharyngeal muscles, and no abnormal amplification of pGpn1 gene GCG repeats.