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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Phan, Han C. Taylor, Jennifer L. Hannon, Harry Howell, Rodney |
| Description | Author Affiliation: Phan HC ( Department of Pediatrics, Emory University, Atlanta, GA. Electronic address: Han.phan@emory.edu.); Taylor JL ( Research Scientist, Atlanta, GA.); Hannon H ( Newborn Screening Consensus Committee, Clinical and Laboratory Standards Institute (CLSI), Wayne, PA.); Howell R ( Miller School of Medicine, University of Miami, Miami, FL.) |
| Abstract | Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality. Children with type I SMA typically die by the age of 2 years. Recent progress in gene modification and other innovative therapies suggest that improved outcomes may soon be forthcoming. In animal models, therapeutic intervention initiated before the loss of motor neurons alters SMA phenotype and increases lifespan. Presently, supportive care including respiratory, nutritional, physiatry, and orthopedic management can ameliorate clinical symptoms and improve survival rates if SMA is diagnosed early in life. Newborn screening could help optimize these potential benefits. A recent report demonstrated that SMA detection can be multiplexed at minimal additional cost with the assay for severe combined immunodeficiency, already implemented by many newborn screening programs. The public health community should remain alert to the rapidly changing developments in early detection and treatment of SMA. |
| File Format | HTM / HTML |
| ISSN | 01460005 |
| Issue Number | 3 |
| Volume Number | 39 |
| e-ISSN | 1558075X |
| Journal | Seminars in Perinatology |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2015-04-01 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Perinatology Dried Blood Spot Testing Methods Genetic Testing Molecular Targeted Therapy Trends Muscular Atrophy, Spinal Diagnosis Neonatal Screening Health Services Needs And Demand Heterozygote Detection Humans Infant, Newborn Organization & Administration Prognosis Survival Of Motor Neuron 1 Protein Blood Genetics Journal Article Review |
| Content Type | Text |
| Resource Type | Article |
| Subject | Pediatrics, Perinatology and Child Health Obstetrics and Gynecology |
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