Two Adult Siblings With Myotonic Dystrophy Type 1 With Different Phenotypes Presenting With Chronic Respiratory Insufficiency and Sleep Apnea Syndrome
Two Adult Siblings With Myotonic Dystrophy Type 1 With Different Phenotypes Presenting With Chronic Respiratory Insufficiency and Sleep Apnea Syndrome
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DOI：
10.3389/fneur.2019.00681
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发表时间：
2019-07-04
影响因子：
3.4
通讯作者：
Fujishiro, Midori
中科院分区：
文献类型：
--
作者：
Kohno, Genta;Ogawa, Katsuhiko;Fujishiro, Midori
强直性肌营养不良1型（Myotonic dystrophy type 1，DM 1）是一种以进行性肌无力、肌强直沿着多器官系统受累为特征的常染色体显性遗传病。总体而言，DM1患者的预期寿命缩短，主要是由于呼吸或心脏异常。慢性呼吸道损害与DM 1发病率增加相关。DM 1的主要通气功能障碍病因很复杂，包括外周呼吸功能障碍和中枢呼吸驱动功能障碍以及导致阻塞性睡眠呼吸暂停综合征（SAS）和误吸的上气道肌肉功能障碍。DM 1的早期诊断和非侵入性治疗工具的管理进展提高了DM 1患者的预期寿命。我们在此提出两个兄弟姐妹与DM1，一个瘦的哥哥和一个肥胖的妹妹内脏脂肪堆积。虽然两人都没有与呼吸功能障碍相关的自主症状，但他们的呼吸暂停低通气指数显示重度SAS，随后的动脉血气研究显示高碳酸血症和缺氧，表明中枢神经系统参与外周呼吸功能障碍。在肺部评估后开始睡眠期间的无创正压通气。应评估DM 1患者的呼吸功能，即使是那些没有呼吸道症状的患者，因为呼吸肌无力发生在这些患者中的比例很高，并会缩短他们的生命。
Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease characterized by progressive muscle weakness and myotonia along with multiple organ system involvements. Overall, DM1 patients show reduced life expectancy, mainly due to respiratory or cardiac abnormalities. Chronic respiratory impairment is associated with increased morbidity in DM1. The main ventilatory dysfunction etiology in DM1 is complex, consisting of both peripheral respiratory dysfunction and central respiratory drive dysfunction as well as upper airway muscle dysfunction leading to obstructive sleep apnea syndrome (SAS) and aspiration. Advancements in early diagnosis of DM1 and management with non-invasive therapeutic tools have improved life expectancy for DM1 patients. We present herein two siblings with DM1, a thin elder brother and an obese younger sister with visceral fat accumulation. Although neither had voluntary symptoms related to respiratory dysfunction, their apnea-hypopnea indices revealed severe SAS and subsequent arterial blood gases studies showed hypercapnia as well as hypoxia, suggesting central nervous system involvement with peripheral respiratory dysfunction. Non-invasive positive pressure ventilation during sleep was started following pulmonary assessment. Respiratory function should be assessed in DM1 patients, even those free of respiratory symptoms, because respiratory muscle weakness occurs in a high percentage of these patients and will shorten their lives.