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Supplementary Material for: Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease)

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DataCite Commons2025-05-01 更新2024-07-29 收录
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https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Sigmoid_Volvulus_in_Myotonic_Dystrophy_Type_I_Steinert_Disease_/19477484/1
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资源简介:
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(Myotonic Dystrophy, MD)是一类以进行性肌无力和肌萎缩为特征的进行性多系统遗传性疾病。MD1(亦称斯坦因特病(Steinert disease))可伴随多种临床病症,包括骨骼肌无力、肌强直、心脏异常、呼吸功能障碍、胃肠道受累以及认知功能损害。本病例报告报道1例32岁MD1女性患者,其因乙状结肠扭转就诊,最终接受内镜减压术治疗。
提供机构:
Karger Publishers
创建时间:
2022-03-31
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