IR@PKUHSC  > 北京大学第一临床医学院  > 神经内科
学科主题临床医学
Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy
Zhao, Juan1; Liu, Jing1; Xiao, Jiangxi2; Du, Jing2; Que, Chengli3; Shi, Xin1; Liang, Wei1; Sun, Weiping1; Zhang, Wei1; Lv, He1; Yuan, Yun1; Wang, Zhaoxia1
刊名PLOS ONE
2015-06-03
DOI10.1371/journal.pone.0128629
10期:6
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]MYOTONIC-DYSTROPHY TYPE-1 ; MUSCULAR-DYSTROPHY ; DISTAL MYOPATHY ; RIMMED VACUOLES ; DISTINCT ; FEATURES ; DIAGNOSIS ; ENTITY ; FAMILY ; ONSET
英文摘要

Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes. The causative gene is currently unknown; therefore, diagnosis of OPDM is based on clinical and histopathological features and genetic exclusion of similar conditions. Moreover, variable manifestations of this disorder are reported in terms of muscle involvement and severity. We present the clinical profile and magnetic resonance imaging (MRI) changes of lower limb muscles in 14 mainland Chinese patients with OPDM, emphasizing the role of muscle MRI in disease identification and differential diagnosis. The patients came from 10 unrelated families and presented with progressive external ocular, laryngopharyngeal, facial, distal limb muscle weakness that had been present since early adulthood. Serum creatine kinase was mildly to moderately elevated. Electromyography revealed myogenic changes with inconsistent myotonic discharge. The respiratory function test revealed subclinical respiratory muscle involvement. Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by PCR or targeted next-generation sequencing. Muscle MRI revealed that the distal lower legs had more severe fatty replacement than the thigh muscles. Serious involvement of the soleus and long head of the biceps femoris was observed in all patients, whereas the popliteus, gracilis and short head of biceps femoris were almost completely spared, even in advanced stages. Not only does our study widen the spectrum of OPDM in China, but it also demonstrates that OPDM has a specific pattern of muscle involvement that may provide valuable information for its differential diagnosis and show further evidence supporting the conclusion that OPDM is a unique disease phenotype.

语种英语
WOS记录号WOS:000355700700111
项目编号2011ZX09307-001-07 ; 81341040
资助机构Ministry of Science and Technology of China ; National Natural Science Foundation of China
引用统计
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/63277
专题北京大学第一临床医学院_神经内科
北京大学第一临床医学院_麻醉科
北京大学第一临床医学院_医学影像科
北京大学第一临床医学院_呼吸科
作者单位1.Peking Univ, Hosp 1, Dept Neurol, Beijing 100871, Peoples R China
2.Peking Univ, Hosp 1, Dept Radiol, Beijing 100871, Peoples R China
3.Peking Univ, Hosp 1, Dept Pneumol, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Zhao, Juan,Liu, Jing,Xiao, Jiangxi,et al. Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy[J]. PLOS ONE,2015,10(6).
APA Zhao, Juan.,Liu, Jing.,Xiao, Jiangxi.,Du, Jing.,Que, Chengli.,...&Wang, Zhaoxia.(2015).Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy.PLOS ONE,10(6).
MLA Zhao, Juan,et al."Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy".PLOS ONE 10.6(2015).
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Zhao, Juan]的文章
[Liu, Jing]的文章
[Xiao, Jiangxi]的文章
百度学术
百度学术中相似的文章
[Zhao, Juan]的文章
[Liu, Jing]的文章
[Xiao, Jiangxi]的文章
必应学术
必应学术中相似的文章
[Zhao, Juan]的文章
[Liu, Jing]的文章
[Xiao, Jiangxi]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。