관련근거
●Neurologic assessment & neurodiagnostics, 27th 2025
●Clinical Neurology & Neuroanatomy 2e 2022
●Diagnosis and management of spinal muscular atrophy: Part 1 : Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Nueromuscular (2018)
●Diagnosis and management of spinal muscular atrophy: Part 2 : Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. (2018)
●Finkel, R. S., et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. New England Journal of Medicine, 2018;377(18), 1723-1732.
●Finkel, R. S.,et al..Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. The Lancet, 2016;388(10063), 3017-3026.
●O’Hagen, J. M., ,et al..An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscular Disorders, 2007; 17(9-10), 693-697.
●van der Woude, D. R., ,et al.. Exploring functional strength changes during nusinersen treatment in symptomatic children with SMA types 2 and 3. Neuromuscular Disorders, 2023; 41, 1-7.
●Yoon, J. A., et al.. Improvement in functional motor scores in patients with non-ambulatory spinal muscle atrophy during Nusinersen treatment in South Korea: a single center study. BMC neurology, 2024;24(1), 210.
●Pierzchlewicz, K., et al.. Spinal muscular atrophy: the use of functional motor scales in the era of disease-modifying treatment. Child neurology open, 2021;8, 2329048X211008725.
●Nelson Textbook of Pediatrics, 22nd, 2025 > Chapter 652
●Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
●Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
●Spinal Muscular Atrophy Update in Best Practices Recommendations for Treatment Considerations
●MERCURI, Eugenio, et al. Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials. Neuromuscular Disorders, 2016, 26.2: 126-131.
●WIJNGAARDE, Camiel A., et al. Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy. Neurology, 2019, 93.2: e149-e158
●APONTE RIBERO, Valerie, et al. Systematic literature review of the natural history of spinal muscular atrophy: motor function, scoliosis, and contractures. Neurology, 2023, 101.21: e2103-e2113.
●GNAZZO, Martina, et al. Scoliosis in spinal muscular atrophy in the era of disease-modifying therapy: a scoping review. Neurological Sciences, 2025, 1-12.
●FARBER, Harold J., et al. Impact of scoliosis surgery on pulmonary function in patients with muscular dystrophies and spinal muscular atrophy. Pediatric Pulmonology, 2020, 55.4: 1037-1042.
●DUNAWAY YOUNG, Sally, et al. Scoliosis surgery significantly impacts motor abilities in higher-functioning individuals with spinal muscular atrophy. Journal of neuromuscular diseases, 2020, 7.2: 183-192.
●CHIRIBOGA, Claudia A., et al. JEWELFISH: 24-month results from an open-label study in non-treatment-naive patients with SMA receiving treatment with risdiplam. Journal of Neurology, 2024, 271.8: 4871-4884.
●BEKIRCANKURT, Can Ebru, et al. Transitioning from Nusinersen to Risdiplam for spinal muscular atrophy in clinical practice: a singlecenter experience. Muscle & Nerve, 2025, 71.3: 414-421.
●FGRIMALDI, Lamiae, et al. REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France. Journal of Neuromuscular Diseases, 2025, 22143602251353446.
●SAITO, Kayoko, et al. Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12？Month Interim Analysis of a Postmarketing Surveillance Study. Neurology and Therapy, 2025, 14.5: 2083-2094.
●SIGNORIA, Ilaria, et al. Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts. Molecular Therapy Methods & Clinical Development, 2024, 32.4.
●Bioequivalence and food effect assessment for a room-temperature stable risdiplam tablet formulation in healthy volunteers (Abstract Mar.14.)
●RAMOS-PLATT, Leigh; ELMAN, Lauren; SHIEH, Perry B. Experience and perspectives in the US on the evolving treatment landscape in spinal muscular atrophy. International Journal of General Medicine, 2022, 15: 7341.
●ZHANG, Dingding, et al. Disease characteristics and treatment status of genetically confirmed spinal muscular atrophy patients: a cross-sectional survey in China. BMC neurology, 2025, 25.1: 411.
●NICE/ NICE Questions and answers on the managed access agreement for risdiplam (January 2022)
●CADTH/ CADTH Drugs for Adults With Spinal Muscular Atrophy: A Focused Review and Critical Appraisal of Recent Evidence (2021 to 2025) on Nusinersen and Risdiplam (June 2025)
●PBAC
●SMC
●AETNA
●BCBS(BlueCrossBlueShield) Texas, Minnesota
●HSE
●NHI