Spinal Muscular Atrophies

被引：124

作者：

Darras, Basil T. ^{[1
]}

机构：

[1] Boston Childrens Hosp, Dept Neurol, Div Clin Neurol, Boston, MA 02115 USA

来源：

PEDIATRIC CLINICS OF NORTH AMERICA | 2015年 / 62卷 / 03期

关键词：

Spinal muscular atrophy; 5q SMA; Non-5q SMAs; Survival of motor neuron protein; Werdnig-Hoffmann disease; Dubowitz disease; Kugelberg-Welander disease; PLACEBO-CONTROLLED TRIAL; SMN MESSENGER-RNA; NATURAL-HISTORY; MOUSE MODEL; CLINICAL-TRIALS; PROTEIN-LEVELS; DOUBLE-BLIND; STEM-CELLS; PHENOTYPE; CLASSIFICATION;

D O I：

10.1016/j.pcl.2015.03.010

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is caused by decreased levels of the survival of motor neuron (SMN) protein and is the most common genetic cause of infant mortality. Its inheritance pattern is autosomal recessive, resulting from mutations involving the SMN1 gene on chromosome 5q13. Unlike other autosomal recessive diseases, the SMN gene has a unique structure (an inverted duplication) that presents potential therapeutic targets. Although there is currently no effective treatment of SMA, the field of translational research in this disorder is active and clinical trials are ongoing. Advances in the multidisciplinary supportive care of children with SMA also offer hope for improved life expectancy and quality of life.

引用

页码：743 / +

页数：26

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