中文摘要：

目的探讨一考虑诊断眼咽型肌营养不良（oculopharyngeal muscular dystrophy,0PMD）家系的临床及分子生物学特点。方法收集该家系成员的临床资料,并经包括先证者在内的16位家族成员同意,收集其血样进行聚合酶链反应（PCR）基因验证分析。结果该家系成员男性患者起病以眼睑下垂为首发症状,而后开始逐渐出现以发音及吞咽困难为表现的咽部肌群和肢体乏力为表现的四肢近端肌群受累,而女性患者则往往以吞咽困难为首发表现。参与基因检测的家族成员中共发现10位存在多聚腺苷酸结合蛋白核l（PABPN1）基因的（GCG）6重复异常拷贝为（GCG）10,从而导致了丙氨酸的扩增。结论基因诊断及产前诊断是确诊及预防眼咽型肌营养不良的关键,眼睑下垂可能为携带（GCG）10突变男性OPMD患者的首发症状。

英文摘要：

Objective To investigate the clinical and molecular genetic changes in a Chinese family with oculopharyngeal muscular dystrophy（OPMD）.Methods We collected the clinical data of the familial members and blood samples from all available 16 familial members, including the proband. The samples were analyzed using modified polymerase chain reaction amplification and direct sequence analysis.Results Male OPMD patients initially presented with ptosis, followed by pronunciation difficulty, dysphagia and limb weakness whereas female OPMD patients initially presented with swallowing difficulty. Genetic test revealed the abnormal expansions of the GCG trinucleotide repeat from GCG6 to GCG10 in PABPN1 gene in 10 familial members.Conclusion sThe genetic test and prenatal diagnosis is the key for the prevention treatment of oculopharyngeal muscular dystrophy. The ptosis of eyelid may be the initial symptom for the male patients of oculopharyngeal muscular dystrophy with（GCG）10mutation.