Respiratory assessment in centronuclear myopathies.
Respiratory assessment in centronuclear myopathies.
复制标题
中心核肌病的呼吸评估。
DOI：
10.1002/mus.24249
复制
发表时间：
2014
期刊：
影响因子：
3.4
通讯作者：
Childers,MartinK
中科院分区：
文献类型：
--
作者：
Smith,BarbaraK;Goddard,Melissa;Childers,MartinK
中心核肌病 (CNM) 是一组被归类为先天性肌病的遗传性神经肌肉疾病。虽然已经确定了一些致病基因，但一些患者并不携带任何目前已知的突变。这些不同的疾病具有共同的组织学特征，包括高比例的中央有核肌纤维以及肌无力和呼吸功能不全的临床特征。 CNM 的呼吸问题最初可能在睡眠期间显现，但随着更严重的呼吸肌功能障碍的发展，日间症状、气道清除无效和通气不足成为主要症状。可以使用考虑患者年龄和基线运动功能而选择的各种临床测试来评估呼吸肌能力。类似的呼吸功能临床测试也可以纳入临床前 CNM 犬模型，为临床试验提供见解。由于呼吸问题是患者发病率较高的原因，因此讨论了呼吸肌功能的常规评估。Muscle Nerve50: 315–326, 2014
The centronuclear myopathies (CNMs) are a group of inherited neuromuscular disorders classified as congenital myopathies. While several causative genes have been identified, some patients do not harbor any of the currently known mutations. These diverse disorders have common histological features, which include a high proportion of centrally nucleated muscle fibers, and clinical attributes of muscle weakness and respiratory insufficiency. Respiratory problems in CNMs may manifest initially during sleep, but daytime symptoms, ineffective airway clearance, and hypoventilation predominate as more severe respiratory muscle dysfunction evolves. Respiratory muscle capacity can be evaluated using a variety of clinical tests selected with consideration for the age and baseline motor function of the patient. Similar clinical tests of respiratory function can also be incorporated into preclinical CNM canine models to offer insight for clinical trials. Because respiratory problems account for significant morbidity in patients, routine assessments of respiratory muscle function are discussed.Muscle Nerve50: 315–326, 2014