Diagnostic Testing for Patients with Spinal Muscular Atrophy

被引:3
作者
Brandsema, John F. [1 ,2 ]
Gross, Brianna N. [1 ]
Matesanz, Susan E. [1 ]
机构
[1] Div Neurol, Colket Translat Res Bldg,10th Floor, Philadelphia, PA 19104 USA
[2] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA
关键词
Spinal muscular atrophy; Survival motor neuron; SMN1; SMN2; Newborn screening; PREIMPLANTATION GENETIC DIAGNOSIS; SMN2 COPY NUMBER; NATURAL-HISTORY; SHAM CONTROL; NUSINERSEN; SMA; GUIDELINES; STANDARDS; PCR; PGD;
D O I
10.1016/j.cll.2020.05.005
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
Diagnostic genetic testing for spinal muscular atrophy is key in establishing early diagnosis for affected individuals. Prenatal carrier testing of parents with subsequent testing of the fetus for homozygous SMN1 gene deletion in those at risk of this autosomal recessive disorder as well as newborn screening can identify the vast majority of affected individuals before the onset of symptoms. Patients presenting symptomatically must be genetically confirmed as soon as possible because targeted treatments are now available that profoundly impact symptoms and improve quality of life.
引用
收藏
页码:357 / +
页数:12
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