Clinical Practice Guideline for Adolescent and Adult Patients with Spinal Muscular Atrophy – Part 1

Yi Dai; Liying Cui

doi:10.37819/hb.3.2040

Clinical Practice Guideline for Adolescent and Adult Patients with Spinal Muscular Atrophy – Part 1

Yi Dai

Liying Cui

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Abstract

In recent years, the field of spinal muscular atrophy (SMA) has made progress in multidisciplinary care and disease-modifying therapies (DMTs). Survival and the quality of life of patients have significantly improved. However, no clinical practice guidelines exist for the management of SMA in adult and adolescent patients. Multidisciplinary experts from a number of tertiary medical centers in China, specializing in the diagnosis and treatment of SMA, came together to remedy this using evidence-based medicine. This guideline serves as an instrumental reference for the standardized care of Chinese SMA patients.

Keywords: Spinal Muscular Atrophy Diagnosis Multidisciplinary Treatment Disease Modifying Therapy

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References

1. Zhang J, Wang Y, Ma D, et al. Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women. J Mol Diagn. 2020;22(6):817-822.
2. Lin Y, Lin C, Yin X, et al. Newborn screening for spinal muscular atrophy in China using DNA mass spectrometry. Front Genet. 2019;10:1255.
3. Werdnig G. Die frühinfantile progressive spinale Amyotrophie. Archiv fur Psychiatrie und Nervenkrankheiten; Berlin. 1894;26:707-744.
4. Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990;344:540-541.
5. Melki J, Abdelhak S, Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 1990;344:767-768.
6. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterisation of a spinal muscular atrophy-determining gene. Cell. 1995;80:155-165.
7. Beijing Medical Association Rare Disease Branch, Beijing Medical Association Medical Genetics Branch, Beijing Medical Association Neurology Branch, et al. Expert Consensus on Multidisciplinary Management of Spinal Muscular Atrophy [in Chinese]. Chin Med J. 2019;99(19):1460-1467.
8. Beijing Medical Association Medical Genetics Branch, Beijing Rare Disease Diagnosis and Treatment and Security Association. Expert Consensus on Genetic Diagnosis of Spinal Muscular Atrophy [in Chinese]. Chin Med J. 2020;100(40):3130-3140.
9. Chinese Medical Association Medical Genetics Branch, Clinical Practice Guidelines Writing Group for Genetic Diseases. Clinical Practice Guidelines for Spinal Muscular Atrophy [in Chinese]. Chin J Med Genet. 2020;37(3):263-268.
10. Expert Consensus Writing Group on Preimplantation Genetic Testing for Spinal Muscular Atrophy. Expert Consensus on Preimplantation Genetic Testing for Spinal Muscular Atrophy [in Chinese]. Chin J Med Genet. 2022;39(2):129-134.
11. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049.
12. Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: Part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103-115.
13. Finkel RS, Mercuri E, Meyer OH, et al. Diagnosis and management of spinal muscular atrophy: Part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018;28(3):197-207.
14. Munsat TL. Workshop report: international SMA collaboration. Neuromuscul Disord. 1991;1:81-83.
15. Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51(2):157-167.
16. Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018;378(7):625-635.
17. Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017;377(18):1723-1732.
18. Hagenacker T, Wurster CD, Günther R, et al. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. Lancet Neurol. 2020;19(4):317-325.
19. Gavriilaki M, Moschou M, Papaliagkas V, et al. Nusinersen in adults with 5q spinal muscular atrophy: a systematic review and meta-analysis. Neurotherapeutics. 2022;19(2):464-475.
20. Mercuri E, Deconinck N, Mazzone ES, et al. 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. Lancet Neurol. 2022;21(1):42-52.
21. Prior TW. Spinal muscular atrophy: a time for screening. Curr Opin Pediatr. 2010;22(6):696-702.
22. Committee on Genetics. Committee opinion No. 691: carrier screening for genetic conditions. Obstet Gynecol. 2017;129(3):e41-e55.
23. Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012;11(5):443-452.
24. Marasco LE, Dujardin G, Sousa-Luís R, et al. Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy. Cell. 2022;185(12):2057-2070.e15.
25. Darras BT, Chiriboga CA, Iannaccone ST, et al. Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies. Neurology. 2019;92(21):e2492-e2506.
26. Jiang Y, Xia Y, Li HB, et al. Pulmonary function analysis in patients with spinal muscular atrophy [in Chinese]. Chin J Appl Clin Pediatr. 2022;37(12):914-919.
27. Ortolan P, Zanato R, Coran A, et al. Role of radiologic imaging in genetic and acquired neuromuscular disorders. Eur J Transl Myol. 2015;25(2):5014.
28. Chan WP, Liu GC. MR imaging of primary skeletal muscle diseases in children. AJR Am J Roentgenol. 2002;179(4):989-997.
29. Mercuri E, Cini C, Counsell S, et al. Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol. 2002;6(6):309-314.
30. Masson R, Brusa C, Scoto M, et al. Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review. Dev Med Child Neurol. 2021;63(5):527-536.
31. Querin G, El Mendili MM, Lenglet T, et al. The spinal and cerebral profile of adult spinal-muscular atrophy: a multimodal imaging study. Neuroimage Clin. 2019;21:101618.
32. de Borba FC, Querin G, França MC Jr, et al. Cerebellar degeneration in adult spinal muscular atrophy patients. J Neurol. 2020;267(9):2625-2631.
33. Stam M, Haakma W, Kuster L, et al. Magnetic resonance imaging of the cervical spinal cord in spinal muscular atrophy. Neuroimage Clin. 2019;24:102002.
34. Laufersweiler-Plass C, Rudnik-Schneborn S, Zerres K, et al. Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings. Dev Med Child Neurol. 2003;45(1):44-49.
35. Stefania LF, Cristina F, Maria S, et al. Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center. Neurol Sci. 2018;39(11):1961-1964.
36. Ropars J, Peudenier S, Genot A, et al. Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA). Arch Pediatr. 2020;27(7S):7S45-7S49.
37. Fischer MJ, Asselman FL, Kruitwagen-Van Reenen ET, et al. Psychological well-being in adults with spinal muscular atrophy: the contribution of participation and psychological needs. Disabil Rehabil. 2020;42(16):2262-2270.

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“Clinical Practice Guideline for Adolescent and Adult Patients With Spinal Muscular Atrophy – Part 1”. Human Brain, vol. 3, no. 3, Mar. 2025, https://doi.org/10.37819/hb.3.2040.

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“Clinical Practice Guideline for Adolescent and Adult Patients With Spinal Muscular Atrophy – Part 1”. Human Brain, vol. 3, no. 3, Mar. 2025, https://doi.org/10.37819/hb.3.2040.

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[1] 1. Zhang J, Wang Y, Ma D, et al. Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women. J Mol Diagn. 2020;22(6):817-822.

[2] 2. Lin Y, Lin C, Yin X, et al. Newborn screening for spinal muscular atrophy in China using DNA mass spectrometry. Front Genet. 2019;10:1255.

[3] 3. Werdnig G. Die frühinfantile progressive spinale Amyotrophie. Archiv fur Psychiatrie und Nervenkrankheiten; Berlin. 1894;26:707-744.

[4] 4. Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990;344:540-541.

[5] 5. Melki J, Abdelhak S, Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 1990;344:767-768.

[6] 6. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterisation of a spinal muscular atrophy-determining gene. Cell. 1995;80:155-165.

[7] 7. Beijing Medical Association Rare Disease Branch, Beijing Medical Association Medical Genetics Branch, Beijing Medical Association Neurology Branch, et al. Expert Consensus on Multidisciplinary Management of Spinal Muscular Atrophy [in Chinese]. Chin Med J. 2019;99(19):1460-1467.

[8] 8. Beijing Medical Association Medical Genetics Branch, Beijing Rare Disease Diagnosis and Treatment and Security Association. Expert Consensus on Genetic Diagnosis of Spinal Muscular Atrophy [in Chinese]. Chin Med J. 2020;100(40):3130-3140.

[9] 9. Chinese Medical Association Medical Genetics Branch, Clinical Practice Guidelines Writing Group for Genetic Diseases. Clinical Practice Guidelines for Spinal Muscular Atrophy [in Chinese]. Chin J Med Genet. 2020;37(3):263-268.

[10] 10. Expert Consensus Writing Group on Preimplantation Genetic Testing for Spinal Muscular Atrophy. Expert Consensus on Preimplantation Genetic Testing for Spinal Muscular Atrophy [in Chinese]. Chin J Med Genet. 2022;39(2):129-134.

[11] 11. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049.

[12] 12. Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: Part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103-115.

[13] 13. Finkel RS, Mercuri E, Meyer OH, et al. Diagnosis and management of spinal muscular atrophy: Part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018;28(3):197-207.

[14] 14. Munsat TL. Workshop report: international SMA collaboration. Neuromuscul Disord. 1991;1:81-83.

[15] 15. Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51(2):157-167.

[16] 16. Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018;378(7):625-635.

[17] 17. Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017;377(18):1723-1732.

[18] 18. Hagenacker T, Wurster CD, Günther R, et al. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. Lancet Neurol. 2020;19(4):317-325.

[19] 19. Gavriilaki M, Moschou M, Papaliagkas V, et al. Nusinersen in adults with 5q spinal muscular atrophy: a systematic review and meta-analysis. Neurotherapeutics. 2022;19(2):464-475.

[20] 20. Mercuri E, Deconinck N, Mazzone ES, et al. 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. Lancet Neurol. 2022;21(1):42-52.

[21] 21. Prior TW. Spinal muscular atrophy: a time for screening. Curr Opin Pediatr. 2010;22(6):696-702.

[22] 22. Committee on Genetics. Committee opinion No. 691: carrier screening for genetic conditions. Obstet Gynecol. 2017;129(3):e41-e55.

[23] 23. Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012;11(5):443-452.

[24] 24. Marasco LE, Dujardin G, Sousa-Luís R, et al. Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy. Cell. 2022;185(12):2057-2070.e15.

[25] 25. Darras BT, Chiriboga CA, Iannaccone ST, et al. Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies. Neurology. 2019;92(21):e2492-e2506.

[26] 26. Jiang Y, Xia Y, Li HB, et al. Pulmonary function analysis in patients with spinal muscular atrophy [in Chinese]. Chin J Appl Clin Pediatr. 2022;37(12):914-919.

[27] 27. Ortolan P, Zanato R, Coran A, et al. Role of radiologic imaging in genetic and acquired neuromuscular disorders. Eur J Transl Myol. 2015;25(2):5014.

[28] 28. Chan WP, Liu GC. MR imaging of primary skeletal muscle diseases in children. AJR Am J Roentgenol. 2002;179(4):989-997.

[29] 29. Mercuri E, Cini C, Counsell S, et al. Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol. 2002;6(6):309-314.

[30] 30. Masson R, Brusa C, Scoto M, et al. Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review. Dev Med Child Neurol. 2021;63(5):527-536.

[31] 31. Querin G, El Mendili MM, Lenglet T, et al. The spinal and cerebral profile of adult spinal-muscular atrophy: a multimodal imaging study. Neuroimage Clin. 2019;21:101618.

[32] 32. de Borba FC, Querin G, França MC Jr, et al. Cerebellar degeneration in adult spinal muscular atrophy patients. J Neurol. 2020;267(9):2625-2631.

[33] 33. Stam M, Haakma W, Kuster L, et al. Magnetic resonance imaging of the cervical spinal cord in spinal muscular atrophy. Neuroimage Clin. 2019;24:102002.

[34] 34. Laufersweiler-Plass C, Rudnik-Schneborn S, Zerres K, et al. Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings. Dev Med Child Neurol. 2003;45(1):44-49.

[35] 35. Stefania LF, Cristina F, Maria S, et al. Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center. Neurol Sci. 2018;39(11):1961-1964.

[36] 36. Ropars J, Peudenier S, Genot A, et al. Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA). Arch Pediatr. 2020;27(7S):7S45-7S49.

[37] 37. Fischer MJ, Asselman FL, Kruitwagen-Van Reenen ET, et al. Psychological well-being in adults with spinal muscular atrophy: the contribution of participation and psychological needs. Disabil Rehabil. 2020;42(16):2262-2270.