期刊
OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA
卷 37, 期 1, 页码 23-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.ogc.2010.03.001
关键词
Spinal muscular atrophy; Carrier testing; Newborn screening; SMN1; SMN2
Spinal muscular atrophy (SMA) is a common autosomal-recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The disease is characterized by progressive symmetric muscle weakness resulting from the degeneration and loss of anterior horn cells in the spinal cord and brainstem nuclei. The management of SMA involves supportive and preventive strategies. New treatments based on increasing the expression of full-length SMN protein levels from the SMN2 gene are being investigated and may be dependent on early detection of the disorder, before the irreversible loss of motor neurons. This article focuses on the prevention of SMA through population carrier screening and newborn screening as a means of ensuring early intervention for SMA.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据