Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy.
Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy.
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DOI：
10.1371/journal.pone.0128629
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Wang Z
中科院分区：
文献类型：
--
作者：
Zhao J;Liu J;Xiao J;Du J;Que C;Shi X;Liang W;Sun W;Zhang W;Lv H;Yuan Y;Wang Z
眼咽远端肌病（OPDM）是一种极其罕见的，成人发病的遗传性肌肉疾病，其特征是进行性眼外、咽外、远端肌肉无力和肌病理性边缘空泡改变。致病基因目前尚不清楚；因此，OPDM的诊断是基于临床和组织病理学特征，并排除类似情况的遗传。此外，据报道，这种疾病在肌肉受累和严重程度方面表现不一。我们报告了14例中国大陆OPDM患者下肢肌肉的临床特征和磁共振成像（MRI）变化，强调肌肉MRI在疾病识别和鉴别诊断中的作用。患者来自10个无亲缘关系的家庭，表现为进行性眼外、喉部、面部、远端肢体肌肉无力，自成年早期开始出现。血清肌酸激酶轻度至中度升高。肌电图显示肌原性改变，肌强张性放电不一致。呼吸功能检查显示亚临床呼吸肌受累。肌病理表现为边缘空泡伴不同程度的肌营养不良改变。所有已知的导致远端和肌纤维性肌病、空泡性肌病和肌肉营养不良的基因都被PCR或靶向下一代测序排除在外。肌肉MRI显示小腿远端比大腿肌肉有更严重的脂肪替代。所有患者均观察到严重的比目鱼肌和股二头肌长头受累，而腘肌、股薄肌和股二头肌短头几乎完全不受累，即使在晚期也是如此。我们的研究不仅扩大了OPDM在中国的范围，而且还表明OPDM具有特定的肌肉受累模式，这可能为其鉴别诊断提供有价值的信息，并进一步证明OPDM是一种独特的疾病表型。
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.
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作者：
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通讯作者：
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Nalini, A.;Gayathri, N.;Dawn, Rose
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