PDF(Pubmed)
Abstract：
Congenital myopathies (CMs) are a clinically and genetically heterogeneous group of disorders characterized by early onset weakness, hypotonia and characteristic structural abnormalities in muscle fibres. Hypotonia and weakness can be present at birth or appear in infancy, and a static or slowly progressive clinical course may present with muscle weakness, loss of spontaneous movement, involuntary muscle activity, and muscle atrophy. Often patients develop a restrictive syndrome and respiratory failure and require respiratory support In our case, we described lung improvement and respiratory muscle training due to singing in a young patient, affected by CMs with a poor adherence to non-invasive mechanical ventilation.
摘要：
先天性肌病（CMs）是一组临床和遗传异质性疾病，其特征是早发性虚弱，肌张力减退和肌纤维特征性结构异常。张力减退和虚弱可以在出生时出现或在婴儿期出现，静态或缓慢进展的临床过程可能会出现肌肉无力，丧失自发运动，不自主的肌肉活动，肌肉萎缩.通常患者会出现限制性综合征和呼吸衰竭，需要呼吸支持。我们描述了一名年轻患者由于唱歌而导致的肺部改善和呼吸肌训练，受无创机械通气依从性差的CMs影响。
