Gastrointestinal and urological symptoms are frequently reported by people with myotonic dystrophy type 1 (DM1) but have remained understudied. In a cross-sectional study, frequency, nature, treatment and impact of gastrointestinal and urological symptoms in children with DM1 aged 5–18 years were assessed. We included 58 children (30 males, 28 females) with a mean age of 13 years; 74.1 % reported at least one gastrointestinal symptom. Abdominal pain was the most frequently reported symptom (51.7 %), followed by dysphagia (41.8 %), diarrhoea (36.2 %), encopresis (36.0 %), constipation (32.7 %), bloating and flatulence (both 25.9 %). The most frequently reported urological symptoms were difficulty with toilet training (59.3 %), urinary incontinence (22.0 %), enuresis nocturna (10.3 %) and voiding (23.5 % hesitancy, 4.8 % intermittency and 13.8 % dysuria). The majority considered urological and gastrointestinal symptoms to have a negative influence on their daily life; 22.4 % of parents reported severe influence on daily family life (shame, social restrictions, school absence and concerns for their children's future). Considering the high prevalence of urological and gastrointestinal symptoms in children with DM1 and their influence on daily life it is key to correctly recognize, diagnose and treat these symptoms. We recommend screening for gastrointestinal and urological symptoms in the standard of care for children with DM1.

1 型强直性肌营养不良 (DM1) 患者经常报告胃肠道和泌尿系统症状，但尚未得到充分研究。在一项横断面研究中，评估了 5-18 岁 DM1 儿童胃肠道和泌尿系统症状的频率、性质、治疗和影响。我们纳入了 58 名儿童（30 名男性，28 名女性），平均年龄为 13 岁；74.1% 的人报告至少一种胃肠道症状。腹痛是最常见的症状（51.7%），其次是吞咽困难（41.8%）、腹泻（36.2%）、大便（36.0%）、便秘（32.7%）、腹胀和肠胃气胀（均为25.9%）。最常见的泌尿系统症状是如厕训练困难（59.3%）、尿失禁（22.0%）、夜间遗尿（10.3%）和排尿（23.5% 犹豫、4.8% 间歇性和 13.8% 排尿困难）。大多数人认为泌尿系统和胃肠道症状对他们的日常生活产生负面影响；22.4% 的家长表示，日常生活受到了严重影响（羞耻、社会限制、缺课和对孩子未来的担忧）。考虑到 DM1 儿童泌尿系统和胃肠道症状的高发病率及其对日常生活的影响，正确识别、诊断和治疗这些症状至关重要。我们建议在 DM1 儿童的标准护理中筛查胃肠道和泌尿系统症状。