Clinical, muscle imaging and electrophysiological features of oculopharyngodistal myopathy
10.3969/j.issn.1002-0152.2018.05.002
- VernacularTitle:散发性眼咽远端型肌病的临床、肌肉影像与电生理特点
- Author:
Mouxiao SU
1
;
Yuwei DA
;
Jianying DUO
Author Information
1. 四川省绵阳市中心医院神经内科 绵阳 621000
- Keywords:
Oculopharyngodistal myopathy;
Muscle MRI;
Electromyography;
Rimmed vacuoles
- From:
Chinese Journal of Nervous and Mental Diseases
2018;44(5):261-265
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical manifestation and electrophysiological, muscle imaging and pathological, molecular features of oculopharyngodistal myopathy (OPDM). Methods The clinical electrophysiological, muscle imaging and pathological, molecular data was collected from a case of OPDM. Data analysis was conducted together with a literature. Results The onset age of the patient was 25 years old. The sequential order of involved muscle was upper eyelid muscle, external ocular, laryngopharyngeal, facial, distal limb muscle and proximal upper limb. Serum creatine kinase was mildly elevated. Electromyography revealed myogenic changes with demyelinating peripheral neuropathy. Myopathological findings showed myopathic changes with rimmed vacuoles . Muscle image showed that fatty replacement of was more severe in lower legs than in thigh. Posterior muscle was severely involved in lower legs. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by targeted next-generation sequencing. Conclusion The case is a sporadic case. OPDM is a disease with a unique phenotype which not only affects muscle but also involves multiple system (demyelinating peripheral neuropathy、heart disease and so on).
