Oculopharyngodistal myopathy type 4 misdiagnosed as thyrotoxic myopathy： A case report and literature review
10.19845/j.cnki.zfysjjbzz.2026.0046
- VernacularTitle:误诊为甲亢性肌病的眼咽型远端肌病4型1例报告并文献复习
- Author:
Ying WANG
1
;
Junling LIU
1
Author Information
1. Department of Neurology， Affiliated Hospital of Shandong Second Medical University， Weifang 261031， China
- Publication Type:Journal Article
- Keywords:
Oculopharyngodistal myopathy;
Thyrotoxic myopathy;
External ophthalmoplegia;
Limb weakness;
RILPL1 gene;
CGG repeat expansion
- From:
Journal of Apoplexy and Nervous Diseases
2026;43(3):265-268
- CountryChina
- Language:Chinese
-
Abstract:
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.
