摘要
眼咽型远端肌病(OPDM)是一种青少年或成年早期发病的遗传性神经肌肉病,临床表现以缓慢进行性眼外肌麻痹、面肌无力、吞咽困难和四肢远端肌无力为特征。本文报道1例OPDM4型患者,以双侧眼球外突、眼外肌麻痹起病,曾被误诊为甲亢性肌病,后续出现双侧咀嚼肌和面肌无力、球麻痹及四肢无力等临床表现,基因检测为RILPL1基因CGG异常重复扩增,通过回顾其临床资料并复习相关文献,以期提高临床医生对此病的认识。
Oculopharyngodistal myopathy(OPDM)is a hereditary neuromuscular disorder occurring in adolescence or early adulthood and is characterized by slowly progressive external ophthalmoplegia,facial muscle weakness,dysphagia,and distal limb weakness.This article reports a patient with OPDM type 4 who had the initial presentation of bilateral pyroptosis and external ophthalmoplegia and was misdiagnosed with thyrotoxic myopathy,and later the patient developed the clinical manifestations of bilateral masticatory and facial muscle weakness,bulbar paralysis,and limb weakness.Genetic testing revealed abnormal CGG repeat expansion in the RILPL1 gene.The clinical data of the patient was analyzed,and a literature review was performed,so as to improve the awareness of this condition among clinicians.
作者
王滢
李红
丁俊月
祝新莉
井冬青
刘君玲
WANG Ying;LI Hong;DING Junyue;ZHU Xinli;JING Dongqing;LIU Junling(Department of Neurology,Affiliated Hospital of Shandong Second Medical University,Weifang 261031,China;Clinical Research Center,Affiliated Hospital of Shandong Second Medical University,Weifang 261031,China;Electrophysiology Lab,Affiliated Hospital of Shandong Second Medical University,Weifang 261031,China)
出处
《中风与神经疾病杂志》
2026年第3期265-268,共4页
Journal of Apoplexy and Nervous Diseases
基金
山东省自然科学基金面上项目(ZR2020MH159)
山东省自然科学基金青年项目(ZR2024QH154)
山东省教育督导学会科研重点课题(SDJYDDXH2023-2160)
教育部产学合作协同育人项目(230803175095715)
山东第二医科大学优质专业学位教学案例库(22YZSALK11)。
