Clinical Resources
This page includes resources for clinicians helping to improve quality of care for individuals with spinal muscular atrophy (SMA).
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Educational Opportunities for Healthcare Providers
Visit the Educational Opportunities page to learn about existing educational programs on SMA for healthcare providers.
Quarterly Newsletter
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Standards of Care
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Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment Considerations
Schroth M, Deans J, Bharucha Goebel D, et al. Neurology Clinical Practice. 2024; 15(1). Published online October 8, 2024.
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations
Schroth M, Deans J, Arya K, et al. Neurology Clinical Practice. 2024; 14(4). Published online May 24, 2024.
Diagnosis and management of spinal muscular atrophy: Part 1:
Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Mercuri E, Finkel RS, Muntoni F, et al. Neuromuscul Disord. 2018; 28(2):103-115.
Diagnosis and management of spinal muscular atrophy: Part 2:
Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Finkel RS, Mercuri E, Meyer OH, et al. Neuromuscul Disord. 2018; 28(3):197-207.
General Clinical Care
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Spinal muscular atrophy: A changing phenotype beyond the clinical trials:
Tizzano EF, Finkel RS. Neuromuscul Disord. 2017; 27(10):883-889.
Spinal muscular atrophy: diagnosis and management in a new therapeutic era:
Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015 Feb;51(2):157-67. doi: 10.1002/mus.24497. Epub 2014 Dec 16. PMID: 25346245; PMCID: PMC4293319.
Musculoskeletal
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Best Practices for the Orthopaedic Care of Children with Spinal Muscular Atrophy: A Consensus Statement from the European Neuromuscular Centre Standard of Care Orthopaedic Working Group:
Vitale M., Roye B., Bloom Z, et al. Journal of the Pediatric Orthopaedic Society of North America. 2022; 4(1):1-16. DOI: https://doi.org/10.55275/JPO.NA-2022-0006
Scoliosis Development in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-Modifying Treatments:
Ciftci S, Ulusaloglu AC, Shrader MW, et al. J Pediatr Orthop. 2024; Oct 1;44(9):e789-e794. DOI: https://doi.org/10.1097/BPO.0000000000002759
Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy:
Rodriguez-Torres R. et. al. J Neuromuscul Dis. 2025 Jan-Feb;12(1). DOI: 10.1177/22143602241313326.
Clinical Outcome Measures
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SMA Biomarker Investigators. Natural history of infantile-onset spinal muscular atrophy:
Kolb SJ, Coffey CS, Yankey JW, et al. Ann Neurol. 2017; 82(6):883-891.
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool:
Ramsey D, Scoto M, Mayhew A, et al. 2017; PLoS ONE 12(2): e0172346.
Revised upper limb module for spinal muscular atrophy: Development of a new module:
Mazzone ES, Mayhew A, Montes J, et al. Muscle Nerve. 2017; 55(6):869-874.
A Patient-Centered Evaluation of Meaningful Change on the 32-Item Motor Function Measure in Spinal Muscular Atrophy Using Qualitative and Quantitative Data:
Duong T, Staunton H, Braid J, et al. Front Neurol. 2022; 12:770423.
Respiratory
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Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen:
Menard J, Seferian AM, Fleurence E, et al. Pediatr Pulmonol. 2022; 57(6):1505-1512.
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study:
Trucco F, Ridout D, Scoto M, et al. Neurology. 2021; 96(4):e587-e599.
Respiratory management of children with spinal muscular atrophy (SMA):
Fauroux B, Griffon L, Amaddeo A, et al. Arch Pediatr. 2020; 27(7S):7S29-7S34.
Changing respiratory expectations with the new disease trajectory of nusinersen treated spinal muscular atrophy [SMA] type 1:
Fitzgerald DA, Doumit M, Abel F. Paediatr Respir Rev. 2018; 28:11-17.
Cardiovascular
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Cardiac pathology in spinal muscular atrophy: A systematic review:
Wijngaarde, C.A., Blank, A.C., Stam, M. et al. Cardiac pathology in spinal muscular atrophy: a systematic review. Orphanet J Rare Dis 12, 67 (2017). https://doi.org/10.1186/s13023-017-0613-5c
Newborn Screening
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Newborn Screening and Birth Prevalence for Spinal Muscular Atrophy in the US:
Belter L, Taylor J, Jorgensen E et al. JAMA Pediatr. 2024. 178(9):946-949. doi: 10.1001/jamapediatrics.2024.1911. Published online July 15, 2024
Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with SMA in the United States:
Zaidman CM, Crockett CD, Wedge E et al. Int J Neonatal Screen. 2024. 10(3):58. doi: 10.3390/ijns10030058.
Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021:
Hale K, Ojodu J, Singh S. International Journal of Neonatal Screening. 2021; 7(3):33.
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go:
Dangouloff T, Vrščaj E, Servais L, Osredkar D; SMA NBS World Study Group. Neuromuscul Disord. 2021 Jun;31(6):574-582.
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments:
Dangouloff T, Botty C, Beaudart C, Servais L, Hiligsmann M. Orphanet J Rare Dis. 2021 Jan 23;16(1):47.
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2: Glascock J, Sampson J, Connolly AM, et al. J Neuromuscul Dis. 2020;7 2:97-100; doi: 10.3233/jnd-190468.
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening:
Glascock J, Sampson J, Haidet-Phillips A, et al. J Neuromuscul Dis. 2018;5 2:145-58; doi: 10.3233/JND-180304
American College of Obstetricians and Gynecologists:.Carrier Screening for Genetic Conditions:
Committee Opinion No. 691. Obstet Gynecol 2017;129(3):e41–e55.
Nutrition
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Metabolic Dysfunction in Spinal Muscular Atrophy: Deguise MO, Chehade L, Kothary R. Int J Mol Sci. 2021; 22(11):5913.
Nutritional Status and Nutrient Intake Challenges in Children With Spinal Muscular Atrophy:
Mehta NM, Newman H, Tarrant S, Graham RJ. Pediatr Neurol. 2016 ;57:80-3. doi: 10.1016/j.pediatrneurol.2015.12.015. Epub 2015 Dec 24. PMID: 26803333
Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II: Davis RH, Miller EA, Zhang RZ, Swoboda KJ. J Pediatr. 2015 Oct 7. pii: S0022-3476(15)01027-6.
Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future:
McGrattan KE, Graham RJ, DiDonato CJ, Darras BT. Am J Speech Lang Pathol. 2021 May 18;30(3):1008-1022.
Clinical Trials
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Novel Treatments
Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy:
Finkel RS, Hughes SH, Parker JA, et al. N Engl J Med. 2025. DOI: https://doi.org/10.1056/NEJMc2300802
First-in-human study of epidural spinal cord stimulation in individuals with spinal muscular atrophy:
Prat-Ortega G, Ensel , Donadio S, et al. Nat Med. 2025. DOI: https://doi.org/10.1038/s41591-024-03484-8.
Pivotal Trials
ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy: Finkel RS, Mercuri E, Darras BT,et al. N Engl J Med. 2017; 377(18):1723-1732.
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy:
Mercuri E, Darras BT, Chiriboga CA, et al. N Engl J Med. 2018; 378(7):625-635.
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study:
De Vivo DC, Bertini E, Swoboda KJ, et al. Neuromuscul Disord. 2019; 29(11):842-856.
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy:
Mendell JR, Al-Zaidy S, Shell R, et al. N Engl J Med. 2017; 377(18):1713-1722.
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial: Day JW, Finkel RS, Chiriboga CA, et al. Lancet Neurol. 2021 Apr;20(4):284-293.
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial: Strauss KA, Farrar MA, Muntoni F, et al. Nat Med. 2022; 28(7):1381-1389.
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial:
Strauss KA, Farrar MA, Muntoni F, et al. Nat Med. 2022;28(7):1390-1397.
Risdiplam in Type 1 Spinal Muscular Atrophy: Baranello G, Darras BT, Day JW, et al. N Engl J Med. 2021; 384(10):915-923.
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls:
Darras BT, Masson R, Mazurkiewicz-Bełdzińska M,et al. N Engl J Med. 2021; 385(5):427-435.
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial:
Masson R, Mazurkiewicz-Bełdzińska M, Rose K, et al. Lancet Neurol. 2022; 21(12):1110-1119.
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial:
Mercuri E, Deconinck N, Mazzone ES, et al. Lancet Neurol. 2022; 21(1):42-52.
Real World Data and Treatment
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study:
Hagenacker T, Wurster CD, Günther R, et al. Lancet Neurol. 2020; 19(4):317-325.
Safety, Tolerability, and Effect of Nusinersen in Non-ambulatory Adults With Spinal Muscular Atrophy: Elsheikh B, Severyn S, Zhao S, et al. Front Neurol. 2021 Apr 16;12:650532.
Patient and Family Perspective
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What Matters Most: A Perspective From Adult Spinal Muscular Atrophy Patients:
Hunter M, Heatwole C, Luebbe E, Johnson NE. J Neuromuscul Dis. 2016 Aug 30;3(3):425-429.
The Experience of Families with Children with Spinal Muscular Atrophy Type I Across Healthcare Systems: Crawford CA, Farber HJ, Lotze TE, Murrell DV, Weimann CM. J Child Neurology. 2017 Jul.
Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study:
Qian Y, McGraw S, Henne J, Jarecki J, Hobby K, Yeh WS. BMC Neurol. 2015 Oct 24;15(1):217.
"The Whole Game is Changing and You've Got Hope": Australian Perspectives on Treatment Decision Making in Spinal Muscular Atrophy:
Farrar MA, Carey KA, Paguinto SG, Kasparian NA, De Abreu Lourenço R. Patient. 2020 Aug;13(4):389-400.
Decisions for Long-Term Ventilation for Children. Perspectives of Family Members:
Edwards JD, Panitch HB, Nelson JE, Miller RL, Morris MC. Ann Am Thorac Soc. 2020 Jan;17(1):72-80.
A Decision for Life - Treatment decisions in newly diagnosed families with spinal muscular atrophy (SMA):
Gusset N, Erbas Y, Germanenko O, et al. Eur J Paediatr Neurol. 2021; 30:105-107.