Hypotonia at Birth: A Case Study of ACTA-1 Mutation, a Congenital Myopathy

被引：2
|
作者：
Gelardi, Laurie [1 ,2 ]
机构：
[1] Calif State Univ Northridge, Nursing, Northridge, CA 91330 USA
[2] Olive View UCLA Med Ctr, Los Angeles, CA USA
来源：
NEONATAL NETWORK | 2018年 / 37卷 / 04期
关键词：
ACTA-1; congenital myopathy; floppy infant; genetics; neonatal hypotonia; weakness;
D O I：
10.1891/0730-0832.37.4.212
中图分类号：
R47 [护理学];
学科分类号：
1011 ;
摘要：
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.
引用
收藏
页码：212 / 217
页数：6
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