Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, et al., editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle Copyright © 1993–2022, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993.

Martinez-Carrera LA, Wirth B. Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein. Front Neurosci. 2015;9:401.

Article  PubMed  PubMed Central  Google Scholar 

Prior TW. Carrier screening for spinal muscular atrophy. Genet Med. 2008;10(11):840–2.

Article  PubMed  PubMed Central  Google Scholar 

Karimzadeh P, Najmabadi H, Lochmuller H, Babaee M, Dehdahsi S, Miryounesi M, et al. Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature. Neuromuscul Disord. 2022;32:806–10.

Article  PubMed  Google Scholar 

Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33(4):831–46.

Article  PubMed  PubMed Central  Google Scholar 

Verhaart IE, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, et al. Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy–a literature review. Orphanet J Rare Dis. 2017;12(1):1–15.

Article  Google Scholar 

Wirth B, Karakaya M, Kye MJ, Mendoza-Ferreira N. Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next. Annu Rev Genomics Hum Genet. 2020;21:231–61.

Article  CAS  PubMed  Google Scholar 

Wu X, Wang S-H, Sun J, Krainer AR, Hua Y, Prior TW. A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. Hum Mol Genet. 2017;26(14):2768–80.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lin C-W, Kalb SJ, Yeh W-S. Delay in diagnosis of spinal muscular atrophy: a systematic literature review. Pediatr Neurol. 2015;53(4):293–300.

Article  PubMed  Google Scholar 

CADTH. CADTH Common Drug Reviews. Clinical Review Report: Nusinersen (Spinraza): (Biogen Canada Inc.): Indication: Treatment of patients with 5q SMA. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health Copyright © 2018 Canadian Agency for Drugs and Technologies in Health; 2018.

Zerres K, Rudnik-Schöneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997;146(1):67–72.

Article  CAS  PubMed  Google Scholar 

Jablonka S, Hennlein L, Sendtner M. Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders. Neurol Res Pract. 2022;4(1):1–32.

Article  Google Scholar 

Farrar MA, Kiernan MC. The genetics of spinal muscular atrophy: progress and challenges. Neurotherapeutics. 2015;12(2):290–302.

Article  CAS  PubMed  Google Scholar 

Farrar MA, Carey KA, Paguinto S-G, Chambers G, Kasparian NA. Financial, opportunity and psychosocial costs of spinal muscular atrophy: an exploratory qualitative analysis of Australian career perspectives. BMJ Open. 2018;8(5): e020907.

Article  PubMed  PubMed Central  Google Scholar 

Dangouloff T, Botty C, Beaudart C, Servais L, Hiligsmann M. Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments. Orphanet J Rare Dis. 2021;16(1):47.

Article  PubMed  PubMed Central  Google Scholar 

Jędrzejowska M. Advances in newborn screening and presymptomatic diagnosis of spinal muscular atrophy. Degener Neurol Neuromuscul Dis. 2020;10:39–47.

PubMed  PubMed Central  Google Scholar 

Born AP, Werlauff U. Early diagnosis of spinal muscular atrophy. Ugeskr Laeger. 2021;183(51):V05210462.

PubMed  Google Scholar 

Hopkins MK, Dugoff L, Kuller JA. Spinal muscular atrophy: inheritance, screening, and counseling for the obstetric provider. Obstet Gynecol Surv. 2021;76(3):166–9.

Article  PubMed  Google Scholar 

Statistics; NCoVaH. Frequently asked questions about medical and public health registries. https://ncvhs.hhs.gov/wp-content/uploads/2022/11/FAQ-on-Public-Health-Registries.pdf.

Gliklich RE, Dreyer NA, Leavy MB. Registries for evaluating patient outcomes. A User’s Guide. 2010;5:19–29.

Google Scholar 

Ali SR, Bryce J, Kodra Y, Taruscio D, Persani L, Ahmed SF. The quality evaluation of rare disease registries—an assessment of the essential features of a disease registry. Int J Environ Res Public Health. 2021;18(22):11968.

Article  PubMed  PubMed Central  Google Scholar 

Pechmann A, König K, Bernert G, Schachtrup K, Schara U, Schorling D, et al. SMArtCARE-A platform to collect real-life outcome data of patients with spinal muscular atrophy. Orphanet J Rare Dis. 2019;14:1–6.

Article  Google Scholar 

Schroth M, Shish J, Stewart T, Paras A, Segura A. Cure SMA care center network and SMA clinical data registry with electronic health record integration (2477). AAN Enterprises; 2020.

Oskoui M, Hodgkinson V, Brais B, Campbell C, Lounsberry J, MacKenzie A, et al. The Canadian neuromuscular disease registry: a national spinal muscular atrophy (SMA) registry for real world evidence (4420). AAN Enterprises; 2021.

Mercuri E, Finkel R, Scoto M, Hall S, Eaton S, Rashid A, et al. Development of an academic disease registry for spinal muscular atrophy. Neuromuscul Disord. 2019;29(10):794–9.

Article  PubMed  Google Scholar 

Finkel RS, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, et al. Restore: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy-rationale and study design. J Neuromuscul Dis. 2020;7(2):145–52.

Article  PubMed  PubMed Central  Google Scholar 

Hodgkinson VL, Oskoui M, Lounsberry J, M’Dahoma S, Butler E, Campbell C, et al. A national spinal muscular atrophy registry for real-world evidence. Can J Neurol Sci. 2020;47(6):810–5.

Article  PubMed  PubMed Central  Google Scholar 

Leary R, Oyewole AO, Bushby K, Aartsma-Rus A. Translational research in Europe for the assessment and treatment for Neuromuscular Disorders (TREAT-NMD). Neuropediatrics. 2017;48(04):211–20.

Article  PubMed  Google Scholar 

Roy AJ, Van den Bergh P, Van Damme P, Doggen K, Van Casteren V, Committee BS. Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR). Acta Neurol Belg. 2015;115:97–104.

Article  PubMed  Google Scholar 

TREAT-NMD neuromuscular network. TREAT-NMD. http://www.treat-nmd.eu.

Das J, Hodgkinson V, Rodrigues M, Bullivant J, Walker H, Straub V, et al. SMA–OUTCOME MEASURES AND REGISTRIES: EP 263 TREAT-NMD core dataset for SMA-an important tool for post marketing surveillance. Neuromuscul Disord. 2021;3(1):S129–30.

Article  Google Scholar 

TREAT-NMD. TREAT-NMD SMA Patient Registry Dataset (Version 2). In: TREAT-NMD, editor; 2019.

Pierzchlewicz K, Kępa I, Podogrodzki J, Kotulska K. Spinal muscular atrophy: the use of functional motor scales in the era of disease-modifying treatment. Child Neurol Open. 2021. https://doi.org/10.1177/2329048X211008725.

Article  PubMed  PubMed Central  Google Scholar 

Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, et al. Diagnosis and management of spinal muscular atrophy: Part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103–15.

Article  PubMed  Google Scholar 

Kichula E, Duong T, Glanzman A, Pasternak A, Darras B, Finkel R, et al. Children’s hospital of philadelphia infant test of neuromuscular disorders (CHOP INTEND) feasibility for individuals with severe spinal muscular atrophy II (S46. 004). AAN Enterprises; 2018.

Glanzman AM, Mazzone E, Main M, Pelliccioni M, Wood J, Swoboda KJ, et al. The children’s hospital of Philadelphia infant test of neuromuscular disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord. 2010;20(3):155–61.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Main M, Kairon H, Mercuri E, Muntoni F. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol. 2003;7(4):155–9.

Article  PubMed  Google Scholar 

O’Hagen JM, Glanzman AM, McDermott MP, Ryan PA, Flickinger J, Quigley J, et al. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord. 2007;17(9–10):693–7.

Article  PubMed  Google Scholar 

Glanzman AM, O’Hagen JM, McDermott MP, Martens WB, Flickinger J, Riley S, et al. Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol. 2011;26(12):1499–507.

Article  PubMed  Google Scholar 

Mercuri E, Lucibello S, Pera MC, Carnicella S, Coratti G, De Sanctis R, et al. Long-term progression in type II spinal muscular atrophy: a retrospective observational study. Neurology. 2019;93(13):e1241–7.

Article