title: Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles.
abstract: BACKGROUND
  Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected.
  
  
  METHODS
  A clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography (EMG), serum creatine kinase (CK), bone X-rays, and brain magnetic resonance imaging (MRI) were performed in this family. Open muscle biopsies were performed on the proband and his mother. To find the causative gene, the whole-exome sequencing was carried out.
  
  
  RESULTS
  Disease onset was from adolescence to adulthood, but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations. Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision. However, not every patient manifested all symptoms. Serum CK was mildly elevated and EMG indicated a myopathic pattern. Brain MRI showed cerebellum and brain stem mildly atrophy. Rimmed vacuoles and inclusion bodies were observed in muscle biopsy. The whole-exome sequencing was performed, but the causative gene has not been found.
  
  
  CONCLUSIONS
  We reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.
authors.affiliation: Department of Neurology, Chinese PLA General Hospital, Beijing 100853; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Chen
authors.affiliation: Department of Neurology, Chinese PLA General Hospital, Beijing 100853; Department of Neurology, Hainan Branch of Chinese PLA General Hospital, Sanya, Hainan Province, China.
authors.forename: Xiang-Hui
authors.initials: XH
authors.lastname: Lu
authors.affiliation: Department of Neurology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Hui-Fang
authors.initials: HF
authors.lastname: Wang
authors.affiliation: Department of Neurology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Ban
authors.affiliation: Department of Neurology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Hua-Xu
authors.initials: HX
authors.lastname: Liu
authors.affiliation: Department of Neurology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Shi
authors.affiliation: Department of Neurology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Department of Neurology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Xi
authors.initials: X
authors.lastname: Yin
authors.affiliation: Department of Neurology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Chuan-Qiang
authors.initials: CQ
authors.lastname: Pu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003638:Deafness / Q000175:diagnosis* / Q000503:physiopathology; D004401:Dysarthria / Q000175:diagnosis / Q000503:physiopathology; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000175:diagnosis / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000175:diagnosis* / Q000503:physiopathology*; D039141:Muscular Dystrophy, Oculopharyngeal / Q000175:diagnosis* / Q000503:physiopathology; D010375:Pedigree; D014617:Vacuoles / Q000473:pathology; D014786:Vision Disorders / Q000175:diagnosis* / Q000503:physiopathology; D055815:Young Adult