HEREDITARY MYOPATHIES WITH EARLY RESPIRATORY INSUFFICIENCY IN ADULTS
HEREDITARY MYOPATHIES WITH EARLY RESPIRATORY INSUFFICIENCY IN ADULTS
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DOI：
10.1002/mus.25602
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发表时间：
2017-11-01
期刊：
影响因子：
3.4
通讯作者：
Milone, Margherita
中科院分区：
文献类型：
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作者：
Naddaf, Elie;Milone, Margherita
简介：以早期呼吸功能不全为主要临床表型特征的遗传性肌病在成人中并不常见，且被低估。研究方法：我们回顾了遗传性肌病患者的临床和实验室数据，这些患者在需要门诊辅助之前就表现出早期呼吸功能不全。仅包括具有致病突变或特定组织病理学诊断的患者。排除心肌病患者。结果：我们确定了22例患者，其中一半在发病时有孤立的呼吸道症状。肌病的诊断往往被延迟，导致延迟的辅助治疗。最常见的肌病是成人型庞贝氏症、肌原纤维肌病、多微核心疾病和1型强直性肌营养不良。确定了核纤层蛋白病、MELAS（线粒体脑肌病伴乳酸酸中毒和卒中样事件）、中枢性肌病和胞浆体肌病的单个病例。结论：我们强调了最常见的遗传性肌病与早期呼吸功能不全作为主要的临床特征，并强调了及时诊断的重要性，为病人的护理。
Introduction: Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults. Methods: We reviewed the clinical and laboratory data of patients with hereditary myopathies who demonstrated early respiratory insufficiency before the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded. Results: We identified 22 patients; half had isolated respiratory symptoms at onset. The diagnosis of the myopathy was often delayed, resulting in delayed ventilatory support. The most common myopathies were adult-onset Pompe disease, myofibrillar myopathy, multi-minicore disease, and myotonic dystrophy type 1. Single cases of laminopathy, MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike events), centronuclear myopathy, and cytoplasmic body myopathy were identified. Conclusion: We highlighted the most common hereditary myopathies associated with early respiratory insufficiency as the predominant clinical feature, and underscored the importance of a timely diagnosis for patient care.