Spinal Muscular Atrophy:
Newborn Screening, Treatment and Referral
Spinal muscular atrophy (SMA) is a rare, life-threatening disorder that may not be detected until irreversible symptoms occur. Newborns in Texas are screened for the disorder to detect those who need additional testing and evaluation to promote the best health outcomes.
Choose any section below to learn more.
Resources
- Resources for Health-Care Providers
Cure SMA, a national nonprofit that advocates on behalf of SMA research and provides resources for patients, their families and health-care providers.
Texas Health and Human Services Commission, Early Childhood Intervention (ECI) Services.
Texas Department of State Health Services, Case Management for Children and Pregnant Women program.
Texas Department of State Health Services Newborn Screening Program SMA web page with links to the SMA Fact Sheet for parents, SMA ACT Sheet for providers and a downloadable SMA brochure in English and Spanish.
Texas Department of State Health Services Newborn Screening Benefits Program forms.
Texas Department of State Health Services Newborn Screening Remote Data System.
Texas Health Steps Comprehensive Care Program.
Texas Health Steps Periodicity Schedule.
U.S. Department of Human Services, National Institutes of Health, National Library of Medicine. Clinicaltrials.gov.
U.S. Department of Human Services, National Institutes of Health, National Library of Medicine.; Genetic Conditions.
- Resources for Families
Cure SMA, a national nonprofit advocating for patients who have SMA and their families.
Muscular Dystrophy Association offers fact sheets and other information.
Texas Parent to Parent, a nonprofit for families of children and adults with disabilities, chronic health conditions and other special health-care needs.
U.S. Department of Human Services, National Institutes of Health, National Library of Medicine. Clinicaltrials.gov
U.S. Department of Human Services, National Institutes of Health, National Library of Medicine. Genetic Conditions.
- References Featured in Course
American College of Obstetricians and Gynecologists. (2021). Carrier Screening for Spinal Muscular Atrophy (SMA).
American Journal of Managed Care. (2020). Newsletter: FDA Approves At-Home Oral Treatment for Spinal Muscular Atrophy.
Cleveland Clinic. (2015). Spinal Muscular Atrophy (SMA).
Cure SMA. (2023).
Finkel, R. S., Mercuri, E., Meyer, O. H.; Simonds, A. K., Schroth, M. K, Graham, R. J.,... Sejersen, T. (2018). Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders, 28(3), 97-207.
Halanski, M. A., Patterson, K. G., Sund, S. A., Makholm, L. M., & Schroth, M. K. (2014). Assessing the Needs of the SMA Population: Survey Results of Health Care Providers and Families. SAGE Open, October-December 2014: 1-5.
Johns Hopkins Medicine. (2020). Spinal Muscular Atrophy (SMA).
Kolb, S. J., & Kissel, J. T. (2011). Spinal muscular atrophy: a timely review. Archives of Neurology, 68(8), 979–984.
Lager, C., & Kroksmark, A-K. (2015). Pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy. European Journal of Paediatric Neurology, 19(5): 537-546. [Abstract].
Mercuri, E., Finkel, R. S., Muntoni, F., Wirth, B., Montes, J., Main, M.,... Szlagatys-Sidorkiewicz, A. (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders, 28(2): 103-115.
Murrell, D. V., Lotze, T. E., Farber, H. J., Crawford, C. A. & Wiemann, C. M. (2017). The Experience of Families With Children With Spinal Muscular Atrophy Type I Across Health Care Systems. Journal of Child Neurology, 32(11): 917-923.
National Organization for Rare Disorders. (2020). Rare Disease Database: Spinal Muscular Atrophy.
Prior T.W., Leach M.E., Finanger E. (2000, updated 2020). Spinal Muscular Atrophy. GeneReviews®. University of Washington, Seattle; 1993-2023.
Qian, Y., McGraw, S., Henne, J., Jarecki, J., Hobby, K., & Yeh, W. S. (2015). Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study. BMC neurology, 15, 217.
Roche. (2020). FDA approves Roche’s Evrysdi (risdiplam) for treatment of spinal muscular atrophy (SMA) in adults and children 2 months and older.
Schorling, D. C., Pechmann, A., & Kirschner, J. (2020). Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care. Journal of Neuromuscular Diseases, 7(1), 1–13.
Texas Department of State Health Services Newborn Screening Videos
U.S. Department of Health and Human Services. National Institute of Neurological Disorders and Stroke. (2019). Spinal Muscular Atrophy Fact Sheet.
U.S. Department of Health and Human Services, Health and Resources and Services Administration, Federal Advisory Committees. (2018). Recommended Uniform Screening Panel.
U.S. Department of Health and Human Services, Health and Resources and Services Administration, Maternal and Child Health Bureau. (2018). Newborn Screening for Spinal Muscular Atrophy: A Summary of the Evidence and Advisory Committee Decision.
U.S. Food and Drug Administration. (2016). News release: FDA approves first drug for spinal muscular atrophy.