Spinal Muscular Atropy (SMA) in Children and Current Therapies

D’Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis [Internet]. 2011;6:71. Available from: https://www.ncbi.nlm.nih.gov/pubmed/22047105

Ben-Shachar S, Orr-Urtreger A, Bardugo E, Shomrat R, Yaron Y. Large-scale population screening for spinal muscular atrophy: clinical implications. Genet Med [Internet]. 2011;13(2):110–4. Available from: https://www.ncbi.nlm.nih.gov/pubmed/21233719

Canpolat M. Bahadır O. , Per H. , Gümüş H. , Dundar M. , Kumandaş S. KBA. Spinal Musküler Atrofi Olgularının Klinik Özellikleri. Güncel Pediatr. 2016;14(1):18–22.

Saracaloğlu A. DAT. Spinal Musküler Atrofi (SMA) Tedavisinde YeniYaklaşımlar ve Onaylı İlaçlar. J Curr Pediatr. 2021;19:248–58.

Sel S. K. Koç F. , Güzel A. İ. KH, SEL SK, KASAP H, Filiz KOÇ, GÜZEL Aİ. Spinal müsküler atrofi ve moleküler genetiği. Arşiv Kaynak Tarama Derg. 2012;21(1):1–26.

Bach JR, Saltstein K, Sinquee D, Weaver B, Komaroff E. Long-term survival in Werdnig-Hoffmann disease. Am J Phys Med Rehabil [Internet]. 2007;86(5):338-339,379. Available from: https://www.ncbi.nlm.nih.gov/pubmed/17449977

Leon-Astudillo C, Wagner M, Salabarria SM, Lammers J, Berthy J, Zingariello CD, et al. Polysomnography findings in children with spinal muscular atrophy after onasemnogene-abeparvovec. Sleep Med [Internet]. 2023;101:234–7. Available from: https://www.ncbi.nlm.nih.gov/pubmed/36442421

Oh SI, Oh J, Park D, Son K, Park JS. Reliability and Validity of the Korean Version of the Spinal and Bulbar Muscular Atrophy Functional Rating Scale. J Clin Neurol [Internet]. 2020;16(4):586–91. Available from: https://www.ncbi.nlm.nih.gov/pubmed/33029964

Sadjadi R, Kelly K, Glanzman AM, Montes J, Linsenmayer M, Tellez M, et al. Psychometric evaluation of modified spinal muscular atrophy functional rating scale (SMAFRS) in adult patients using Rasch analysis. Muscle Nerve [Internet]. 2023; Available from: https://www.ncbi.nlm.nih.gov/pubmed/36605016

International Human Genome Sequencing C. Finishing the euchromatic sequence of the human genome. Nature [Internet]. 2004;431(7011):931–45. Available from: https://www.ncbi.nlm.nih.gov/pubmed/15496913

Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, et al. The DNA sequence and comparative analysis of human chromosome 5. Nature [Internet]. 2004;431(7006):268–74. Available from: https://www.ncbi.nlm.nih.gov/pubmed/15372022

Arikan Y, Berker Karauzum S, Uysal H, Mihci E, Nur B, Duman O, et al. Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA. Gene [Internet]. 2022;823:146322. Available from: https://www.ncbi.nlm.nih.gov/pubmed/35219815

Boido M, Gesmundo I, Caretto A, Pedrolli F, Schellino R, Leone S, et al. Agonist of growth hormone-releasing hormone improves the disease features of spinal muscular atrophy mice. Proc Natl Acad Sci U S A [Internet]. 2023;120(2):e2216814120. Available from: https://www.ncbi.nlm.nih.gov/pubmed/36603028

Carre A, Empey C. Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors. J Genet Couns [Internet]. 2016;25(1):32–43. Available from: https://www.ncbi.nlm.nih.gov/pubmed/26250347

Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet [Internet]. 2002;111(6):477–500. Available from: https://www.ncbi.nlm.nih.gov/pubmed/12436240

Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, et al. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Hum Genet [Internet]. 2019 Mar 20;138(3):241–56. Available from: https://www.ncbi.nlm.nih.gov/pubmed/30788592

Zettler B, Estrella E, Liaquat K, Lichten L. Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era. J Genet Couns [Internet]. 2022;31(3):803–14. Available from: https://www.ncbi.nlm.nih.gov/pubmed/35037741

Rouzier C, Chaussenot A, Paquis-Flucklinger V. Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA). Arch Pediatr [Internet]. 2020;27(7S):7S9–14. Available from: https://www.ncbi.nlm.nih.gov/pubmed/33357600

Farrar MA, Kiernan MC. The Genetics of Spinal Muscular Atrophy: Progress and Challenges. Neurotherapeutics [Internet]. 2015;12(2):290–302. Available from: https://www.ncbi.nlm.nih.gov/pubmed/25413156

Küçük A Aydoğan H, Altay N, Karahan M YH. Anesthetic management of pediatric patient with spinal muscular atrophy. Pamukkale Med J. 2016;9(1):57–61.

AkoğLu SY, Bedriye Tuğba K, Gözde. Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı ve Yaşam Kalitesi. 7 [Internet]. 2023; Available from: https://dergipark.org.tr/tr/pub/ikcusbfd/issue/72902/1137872

Werdnig G. Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber anf neurotischer Grundlage. Arch Psychiatr Nervenkr. 1891;22(2):437–80.

Audic F, Barnerias C. Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease). Arch Pediatr [Internet]. 2020;27(7S):7S15–7. Available from: https://www.ncbi.nlm.nih.gov/pubmed/33357591

Al-Zaidy SA, Mendell JR. From Clinical Trials to Clinical Practice: Practical Considerations for Gene Replacement Therapy in SMA Type 1. Pediatr Neurol [Internet]. 2019;100:3–11. Available from: https://www.ncbi.nlm.nih.gov/pubmed/31371124

Jones CC, Cook SF, Jarecki J, Belter L, Reyna SP, Staropoli J, et al. Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort. J Neuromuscul Dis [Internet]. 2020;7(1):33–40. Available from: https://www.ncbi.nlm.nih.gov/pubmed/31707372

Bono R, Inverno M, Botteon G, Iotti E, Estienne M, Berardinelli A, et al. Prospective study of gross motor development in children with SMA Type II. Ital J Neurol Sci [Internet]. 1995 Apr;16(3):223–30. Available from: https://www.ncbi.nlm.nih.gov/pubmed/7591674

Salort-Campana E, Quijano-Roy S. Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease). Arch Pediatr [Internet]. 2020;27(7S):7S23–8. Available from: https://www.ncbi.nlm.nih.gov/pubmed/33357593

Lin CW, Kalb SJ, Yeh WS. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Pediatr Neurol [Internet]. 2015;53(4):293–300. Available from: https://www.ncbi.nlm.nih.gov/pubmed/26260993

Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve [Internet]. 2015;51(2):157–67. Available from: https://www.ncbi.nlm.nih.gov/pubmed/25346245

Tufan Ç. Spinal Musküler Atrofi İçin Prenatal Tanı. Dokuz Eylül Üniversitesi Tıp Fakültesi Derg. 2010;24(2):65–8.

Blair HA. Onasemnogene Abeparvovec: A Review in Spinal Muscular Atrophy. CNS Drugs [Internet]. 2022;36(9):995–1005. Available from: https://www.ncbi.nlm.nih.gov/pubmed/35960489

Mahajan R. Onasemnogene Abeparvovec for Spinal Muscular Atrophy: The Costlier Drug Ever. Int J Appl Basic Med Res [Internet]. 2019;9(3):127–8. Available from: https://www.ncbi.nlm.nih.gov/pubmed/31392173

Thomsen G, Burghes AHM, Hsieh C, Do J, Chu BTT, Perry S, et al. Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue. Nat Med [Internet]. 2021;27(10):1701–11. Available from: https://www.ncbi.nlm.nih.gov/pubmed/34608334

Hoy SM. Nusinersen: First Global Approval. Drugs [Internet]. 2017;77(4):473–9. Available from: https://www.ncbi.nlm.nih.gov/pubmed/28229309

Chiriboga CA. Nusinersen for the treatment of spinal muscular atrophy. Expert Rev Neurother [Internet]. 2017;17(10):955–62. Available from: https://www.ncbi.nlm.nih.gov/pubmed/28884620

Gidaro T, Servais L. Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. Dev Med Child Neurol [Internet]. 2019;61(1):19–24. Available from: https://www.ncbi.nlm.nih.gov/pubmed/30221755

Acsadi G, Crawford TO, Muller-Felber W, Shieh PB, Richardson R, Natarajan N, et al. Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study. Muscle Nerve [Internet]. 2021;63(5):668–77. Available from: https://www.ncbi.nlm.nih.gov/pubmed/33501671

Dhillon S. Risdiplam: First Approval. Drugs [Internet]. 2020 Nov 12;80(17):1853–8. Available from: https://www.ncbi.nlm.nih.gov/pubmed/33044711

Baranello G, Darras BT, Day JW, Deconinck N, Klein A, Masson R, et al. Risdiplam in Type 1 Spinal Muscular Atrophy. N Engl J Med [Internet]. 2021;384(10):915–23. Available from: https://www.ncbi.nlm.nih.gov/pubmed/33626251

Yates N, Hinkel J. The economics of moonshots: Value in rare disease drug development. Clin Transl Sci [Internet]. 2022;15(4):809–12. Available from: https://www.ncbi.nlm.nih.gov/pubmed/35334152