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成人起病的杆状体肌病合并重症肌无力:一例报告

Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report.

作者信息

Cao Lingling, Wang Yanling, Liu Xiaofeng, Hu Yanxia, Li Nianchun, Qiu Guoping, Luo Yun, Li Weidong

机构信息

From the Department of Medicine, The First Hospital of Jiujiang City, Jiujiang, 332000, China (LC, YW, XL, YH, NL, GQ, YL); Key Laboratory of System Biomedicine of Jiangxi Province, Medical College, Jiujiang University, Jiujiang, 332000, China (WL).

出版信息

Medicine (Baltimore). 2016 Jan;95(4):e2527. doi: 10.1097/MD.0000000000002527.

Abstract

Myasthenia gravis (MG) is an autoimmune neuromuscular junction disorder which is characterized by fluctuating muscle fatigue. However, the association of MG with nemaline myopathy is rarely reported. Here we report a case of MG coexisting with adult-onset nemaline myopathy. A 55-year-old man endured fluctuating muscle weakness with positive acetylcholine receptor and titin antibodies. After the patient was administrated cholinergic drugs and immunosuppression, the muscle weakness of the patient had mildly been alleviated. Electromyography showed a progressive decrement in the amplitude of muscle action potential at low frequency. Muscle biopsy showed numerous nemalines in the muscle fibers. This is the first reported case of nemalines present in the muscle fibers of adult patient with MG. The pathogenesis of nemaline may be related to titin antibody in adult-onset nemaline myopathy with MG.

摘要

重症肌无力(MG)是一种自身免疫性神经肌肉接头疾病,其特征为肌肉疲劳波动。然而,MG与杆状体肌病的关联鲜有报道。在此,我们报告一例MG与成人起病的杆状体肌病共存的病例。一名55岁男性患有肌肉无力波动,乙酰胆碱受体和肌联蛋白抗体呈阳性。在患者接受胆碱能药物和免疫抑制治疗后,其肌肉无力稍有缓解。肌电图显示低频时肌肉动作电位幅度逐渐降低。肌肉活检显示肌纤维中有大量杆状体。这是首例报道的成年MG患者肌纤维中存在杆状体的病例。杆状体的发病机制可能与成人起病的MG合并杆状体肌病中的肌联蛋白抗体有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f501/5291559/b6d0d6071685/medi-95-e2527-g001.jpg

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