Second Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Eiheiji-cho, Fukui, Japan.
Neuromuscul Disord. 2012 Aug;22(8):755-8. doi: 10.1016/j.nmd.2012.04.010. Epub 2012 Jun 8.
We report two patients with myotonic dystrophy type 1 (DM1) showing winged scapula in a single family. Genomic analysis revealed a marked expansion of CTG repeats in the 3' untranslated region; 1100 in patient 1 and 667 in patient 2. Muscle MRI revealed marked atrophy in the serratus anterior muscle in both patients. Muscle biopsy findings showed central nuclei and variations in fiber size. One of the patients showed ragged red fibers in muscles of the biceps brachii. To our knowledge, this is the first report of typical winged scapula in DM1.
我们报告了一个家族中两名患有 1 型肌强直性营养不良（DM1）的患者出现翼状肩胛。基因组分析显示 3'非翻译区 CTG 重复明显扩增；患者 1 为 1100 个，患者 2 为 667 个。肌肉 MRI 显示两名患者的前锯肌均有明显萎缩。肌肉活检结果显示中央核和纤维大小的变化。其中一名患者肱二头肌的肌肉中出现了破碎红纤维。据我们所知，这是 DM1 中首例典型的翼状肩胛报告。
