Bayoumy Ahmed B, Gjertsen Jennifer Suzanne, Tushuizen Maarten E
Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, The Netherlands.
Faculty of Medicine, Amsterdam UMC, Location Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Case Rep Gastroenterol. 2022 Mar 31;16(1):209-215. doi: 10.1159/000522476. eCollection 2022 Jan-Apr.
Myotonic dystrophy (MD) is a progressive multisystem genetic disorder that is characterized by progressive muscle weakness and wasting. MD1 (also known as Steinert disease) is associated with various clinical entities such as skeletal muscle weakness, myotonia, cardiac abnormalities, respiratory dysfunction, gastrointestinal involvement, and cognitive impairment. In this case report, we present a 32-year-old woman with MD1 who presented with a sigmoid volvulus, which was treated with endoscopic decompression.
强直性肌营养不良（MD）是一种进行性多系统遗传性疾病，其特征为进行性肌肉无力和萎缩。MD1（也称为斯坦纳特病）与多种临床病症相关，如骨骼肌无力、肌强直、心脏异常、呼吸功能障碍、胃肠道受累及认知障碍。在本病例报告中，我们介绍了一名32岁患有MD1的女性，她出现了乙状结肠扭转，并接受了内镜减压治疗。
