Department of Neurology and Geriatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu City, Gifu Prefecture, 501-1194, Japan.
J Neurol. 2013 Jun;260(6):1611-6. doi: 10.1007/s00415-013-6842-1. Epub 2013 Jan 24.
Gastrointestinal symptoms are frequent complaints in patients with myotonic dystrophy type 1 (MyD1) and may be associated with reduced gastrointestinal motility caused by smooth muscle dysfunction. Although previous studies have found delayed gastric emptying (GE) in MyD1 patients, the relationship between GE and symptoms has been unclear. We investigated GE in 23 MyD1 patients and 20 healthy volunteers using the 13C-acetate breath test. The MyD1 patients were divided into two groups: those with gastrointestinal symptoms (n = 9) and those without gastrointestinal symptoms (n = 14). The GE function was estimated using the 13C-acetate breath test as half-emptying time (HET) and peak time of the 13C-%-dose-excess curve (T max). GE (HET and T max) was more significantly delayed in patients with MyD1 than in the controls. The GE in MyD1 patients with gastrointestinal symptoms was significantly delayed compared to those without gastrointestinal symptoms. The GE in MyD1 patients with gastrointestinal symptoms was more significantly delayed than in the controls. The GE was significantly delayed in MyD1 patients with gastrointestinal symptoms for >5 years as compared to those with the disease for <5 years, while GE of MyD1 patients without gastrointestinal symptoms did not correlate with the duration of the disease. The GE in MyD1 patients did not correlate with the muscular disability rating scale. These findings suggest that impairment of GE evolves over time and that the progression of delayed GE and skeletal muscle impairment are independent. Smooth muscle impairment may be affected at an earlier stage in MyD1.
胃肠道症状是 1 型肌强直性营养不良(MyD1)患者常见的主诉,可能与平滑肌功能障碍导致的胃肠道蠕动减少有关。尽管之前的研究发现 MyD1 患者存在胃排空延迟(GE),但 GE 与症状之间的关系尚不清楚。我们使用 13C-乙酸呼气试验研究了 23 名 MyD1 患者和 20 名健康志愿者的 GE。将 MyD1 患者分为两组:有胃肠道症状组(n = 9)和无胃肠道症状组(n = 14)。通过 13C-乙酸呼气试验,用半排空时间(HET)和 13C-%-剂量过量曲线的峰值时间(T max)估计 GE 功能。MyD1 患者的 GE(HET 和 T max)明显延迟。与无胃肠道症状的患者相比,有胃肠道症状的 MyD1 患者的 GE 明显延迟。有胃肠道症状的 MyD1 患者的 GE 明显比对照组延迟。与患病 <5 年的患者相比,有胃肠道症状的 MyD1 患者的 GE 超过 5 年显著延迟,而无胃肠道症状的 MyD1 患者的 GE 与疾病持续时间无关。MyD1 患者的 GE 与肌肉残疾评定量表无相关性。这些发现表明,GE 的延迟随时间而演变,并且 GE 延迟和骨骼肌损伤的进展是独立的。平滑肌损伤可能在 MyD1 的早期阶段受到影响。