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学科主题: 临床医学
题名:
Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy
作者: 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
发表日期: 2015-06-03
DOI: 10.1371/journal.pone.0128629
卷: 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
所属项目编号: 2011ZX09307-001-07 ; 81341040
项目资助者: Ministry of Science and Technology of China ; National Natural Science Foundation of China
WOS记录号: WOS:000355700700111
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/63277
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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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

Recommended Citation:
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).
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