Abstract：
Duchenne muscular dystrophy is a progressive muscle wasting disease caused by pathogenic variants in DMD. Gastrointestinal involvement is increasingly recognised in older patients and can manifest as life-threatening bowel dysmotility. We describe a series of adults with Duchenne muscular dystrophy who developed either severe colonic pseudo-obstruction or sigmoid volvulus requiring urgent assessment and intervention. The presentations varied in their clinical picture and outcomes, but together highlight the complexity of managing gastrointestinal complications in this cohort of patients. Key considerations include pre-existing cardiorespiratory compromise and the increased risk associated with surgery and general anaesthesia. We also outline a role for home parenteral nutrition in the long-term management of associated bowel dysmotility.
摘要：
Duchenne型肌营养不良是由DMD中的致病变异引起的进行性肌肉萎缩疾病。老年患者越来越多地认识到胃肠道受累，并可能表现为危及生命的肠动力障碍。我们描述了一系列患有Duchenne型肌营养不良症的成年人，他们发展为严重的结肠假性梗阻或乙状结肠扭转，需要紧急评估和干预。他们的临床表现和结果各不相同，但同时也凸显了这一队列患者胃肠道并发症管理的复杂性.主要考虑因素包括预先存在的心肺功能损害以及与手术和全身麻醉相关的风险增加。我们还概述了家庭肠外营养在相关肠动力障碍的长期管理中的作用。
