PDF(Pubmed)
Abstract：
Nemaline myopathy is a skeletal muscle disorder characterized by a wide range of severity and variable presentation. While most cases present in the neonatal period with symptoms, such as hypotonia, muscle weakness, and respiratory insufficiency, delayed onset in childhood or adulthood is also observed. The pathogenesis of nemaline myopathy involves at least 12 genes, and the condition can arise from de novo mutations or be inherited in a dominant or recessive manner. In this study, we present two cases of neonates admitted to a neonatal intensive care unit (NICU) exhibiting hypotonia, muscle weakness, and respiratory insufficiency. Both cases were diagnosed with congenital nemaline myopathy, with each patient displaying distinct mutations. This report highlights the clinical and genetic heterogeneity of this condition, emphasizing the importance of early recognition and genetic evaluation for accurate diagnosis and appropriate management of affected individuals.
摘要：
神经肌病是一种骨骼肌疾病，其特征是严重程度和表现各异。虽然大多数病例在新生儿期出现症状，如张力减退,肌肉无力,和呼吸功能不全，还观察到儿童期或成年期的延迟发作。线虫肌病的发病机制涉及至少12个基因，并且这种情况可以由从头突变引起，或者以显性或隐性方式遗传。在这项研究中,我们介绍了2例新生儿重症监护病房（NICU）的新生儿表现出张力减退，肌肉无力,和呼吸功能不全。两例均诊断为先天性线虫性肌病，每个患者都表现出不同的突变。本报告强调了这种情况的临床和遗传异质性，强调早期识别和遗传评估对于准确诊断和适当管理受影响个体的重要性。
