Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Laboratory of Medical Immunology, Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
Neuromuscul Disord. 2018 Oct;28(10):878-880. doi: 10.1016/j.nmd.2018.07.003. Epub 2018 Jul 20.
We report a patient with progressive proximal muscle weakness in her legs, early-onset cataract and perceptive hearing loss, who was recently diagnosed with myotonic dystrophy type 2 (DM2). She also had two autoimmune disorders in her history, namely Graves' disease and celiac disease. Previous studies have shown a high frequency of autoimmune diseases (21%) in patients with DM2. This is the first report of a patient with DM2 and two autoimmune diseases which both have not yet been described in DM2. The cause of this association might be explained at DNA, mRNA and protein levels, including genetic mutation in flanking genes and the toxic effect of the DM2 mutation on proteins involved in inflammation. This case report widens the spectrum of autoimmune diseases in DM2 and has implications both for clinical practice and for research.
我们报告了一例以进行性近端肌无力为特征、起病早的白内障和知觉性听力损失的患者，该患者最近被诊断为 2 型肌强直性营养不良（DM2）。她的病史中还有两种自身免疫性疾病，即格雷夫斯病和乳糜泻。先前的研究表明，DM2 患者的自身免疫性疾病发生率较高（21%）。这是首例 DM2 合并两种尚未在 DM2 中描述的自身免疫性疾病的患者报告。这种关联的原因可能可以在 DNA、mRNA 和蛋白质水平上得到解释，包括侧翼基因的基因突变和 DM2 突变对参与炎症的蛋白质的毒性作用。本病例报告拓宽了 DM2 中自身免疫性疾病的范围，对临床实践和研究均具有重要意义。
