Neurol. praxi. 2022;23(1):9-13 | DOI: 10.36290/neu.2022.014

Spinal muscular atrophy in childhood – actual treatment options 

MUDr. Jana Haberlová, Ph.D.1, RNDr. Petra Hedvičáková2, MUDr. Petra Fuchsová1, MUDr. Markéta Jílková1, MUDr. Lucie Holubová1, MUDr. Tereza Doušová3
1 Klinika dětské neurologie 2. LF UK a FN Motol, Praha
2 Ústav biologie a lékařské genetiky 2. LF UK a FN Motol, Praha
3 Pediatrická klinika 2. LF UK a FN Motol, Praha

Spinal muscular atrophy caused by the SMN1 gene is a degenerative disease of alfa motor neurons in the anterior horn of the spinal cord. Clinically, it is characterized by progressive muscular weakness. It is a rare disease with a 1/10,000 incidence. Since 2016 it has been a causally treatable disease. Nowadays there are already three causal drugs based on gene therapy: nusinersen (Spinraza), risdiplam (Evrysdi) and onasemnogene abeparvovec (Zolgensma). The most important factor determining effectiveness is the promptness in starting the therapy, due to this there is an acute need of early diagnosis. Therapy of symptomatic patiens is never able to cure them. In case of an early diagnosis and prompt therapy it can mildly improve motor abilities but it mostly stabilizes the patient. For symptomatic patients the multidisciplinary care provided in neuromuscular centres is therefore still essential.

Keywords: spinal muscular atrophy, nusinersen, risdiplam, onasemnogen abeparvovec, Neuromuscular Centre

Published: March 14, 2022  Show citation

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Haberlová J, Hedvičáková P, Fuchsová P, Jílková M, Holubová L, Doušová T. Spinal muscular atrophy in childhood – actual treatment options . Neurol. praxi. 2022;23(1):9-13. doi: 10.36290/neu.2022.014.
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    References

    1. Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic map­ping of chronic Childhood onset SMA to chromosome 5q11.2-13.3. Nature. 1990;344:540-541. Go to original source... Go to PubMed...
    2. Dangouloff T, Servais L. Clinical evidence supporting early treatment of patients with spinal muscular atrophy: cur­rent perspectives. Therapeutics and Clinical Risk Management. 2019;15:1153-1161. Go to original source... Go to PubMed...
    3. Dangouloff T, Vrščaj E, Servais L, et al. SMA NBS World Study Group. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go. Neuromuscul Disord. 2021;S0960-8966(21)00071-7. Go to original source... Go to PubMed...
    4. Dubowitz V. Ramblings in the history of spinal muscular atrophy. Neuromuscul Disord. 2009;19(1):69-73. Go to original source... Go to PubMed...
    5. Farrar MA, Vucic S, Johnston HM, et al. Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy. J Pediatr. 2013;162(1):155-159. Go to original source... Go to PubMed...
    6. Kariya S, Park GH, Maeno-Hikichi Y, et al. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008;17(16):2552-2569. Go to original source... Go to PubMed...
    7. 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. Go to original source... Go to PubMed...
    8. Kolb SJ, Kissel JT. Spinal Muscular Atrophy A Timely Review. Arch Neurol. 2011;68(8):979-984. Go to original source... Go to PubMed...
    9. Kirschner J, Butoianu N, Goemans N, et al. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. Eur J Paediatr Neurol. 2020; in print. Go to original source... Go to PubMed...
    10. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterisation of a SMA - determining gene. Cell. 1995;13(80):155-165. Go to original source... Go to PubMed...
    11. Mahajan R. Onasemnogene Abeparvovec for Spinal Muscular Atrophy: The Costlier Drug Ever. Int J Appl Basic Med Res. 2019;9(3):127-128. Go to original source... Go to PubMed...
    12. Markowitz JA, Singh P, Darras BT. Spinal Muscular Atrophy: A Clinical and Research Update. Pediatr Neurol. 2012;46(1):1-12. Go to original source... Go to PubMed...
    13. 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. Go to original source... Go to PubMed...
    14. Ogino S, Wilson RB, Gold B. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. European Journal of Human Genetics. 2004;12:1015-1023. Go to original source... Go to PubMed...
    15. Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007;69:1931-1936. Go to original source... Go to PubMed...
    16. Osredkar D, Jílková M, Butenko T, et al. Children and young adults with spinal muscular atrophy treated with nusinersen. Eur J Paediatr Neurol. 2021;30:1-8. Go to original source... Go to PubMed...
    17. Poirier A, Weetall M, Heinig K, et al. Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs. Pharmacol Res Perspect. 2018;29;6(6). Go to original source... Go to PubMed...
    18. Shababi M, Lorson ChL, Rudnik-Schoneborn SS. Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease? J Anat. 2014;224:15-28. Go to original source... Go to PubMed...
    19. Stein CA, Castanotto D. FDA-Approved Oligonucleotide Therapies in 2017. Mol Ther. 2017;25(5):1069-1075. Go to original source... Go to PubMed...
    20. Strenková J, Voháňka S, Haberlová J, et al. REaDY - český registr svalových dystrofií. Cesk Slov Neurol N. 2014;77/110(2): 230-234.

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