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- John F Brandsema, Brianna N Gross, and Susan E Matesanz.
- Division of Neurology, Colket Translational Research Building, 10th Floor, 3501 Civic Center Boulevard, Philadelphia, PA 19104, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: brandsemaj@email.chop.edu.
- Clin. Lab. Med. 2020 Sep 1; 40 (3): 357-367.
AbstractDiagnostic 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.Copyright © 2020 Elsevier Inc. All rights reserved.
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