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.
Standards of Care
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
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
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.2022. 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: Original Research. Journal of the Pediatric Orthopaedic Society of North America. 4, 1 (Feb. 2022). DOI:https://doi.org/10.55275/JPO.NA-2022-0006.
Clinical Outcome Measures
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
An Evaluation of a Continuing Education Program for Family Caregivers of Ventilator-Dependent Children with Spinal Muscular Atrophy (SMA)
Boroughs D. MDIP. Children (Basel. 2017 May; 4(5): 33. doi:10.3390/children4050033.
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
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
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
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
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
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.