Abstract：
Congenital myopathy is an uncommon neonatal disorder that can manifest in the neonatal period with severe features. Presentation with signs of global hypotonia and respiratory insufficiency are among the classic findings. Rapid diagnosis is essential for medical management and family support. This case study reviews the presentation of hypotonia in the newborn, followed by a path to a diagnosis of nemaline myopathy in the form of an ACTA-1 mutation. This review can aid the clinician in the diagnosis of patients in whom hypotonia is present at birth. Included is a discussion of the incidence, pathophysiology, diagnosis, and management of this devastating disease.
摘要：
先天性肌病是一种罕见的新生儿疾病，可在新生儿期表现为严重特征。具有整体张力减退和呼吸功能不全迹象的表现是经典发现之一。快速诊断对于医疗管理和家庭支持至关重要。这个案例研究回顾了新生儿张力减退的表现，随后以ACTA-1突变的形式诊断线虫肌病。这篇评论可以帮助临床医生诊断出生时存在张力减退的患者。包括对发病率的讨论，病理生理学,诊断,以及这种毁灭性疾病的管理。
