Spinal Muscular Atrophy
Awareness Month – August 2025
Spinal Muscular Atrophy (SMA) Awareness Month takes place every year in August to raise awareness of SMA, to support individuals and families and to advocate for access to timely diagnosis and treatment. This year, the aim is to highlight the importance of adding SMA to the Newborn Screening blood spot test in the UK.
RELATED LIBRARY RESOURCES
The Health Libraries, both at the Royal Stoke and County Hospitals, offer resources related to this topic. In the lists below you’ll find a small selection of items from our collection. To locate these items, simply go to our online catalogue or ask at the counter. This document covers the following resources – books, journals, journal articles and patient information.
BOOKS
Pediatric neurology; Holmes, Gregory L; Bingham, Peter M; 2016 (Oxford University Press); 2nd edition - [only available as an e-book – available for Keele & NHS users]
Examination of the newborn: an evidence-based guide; Lomax, Anne; 2021 (Wiley-Blackwell); 3rd edition – [also available as a Keele e-book]
Molecular Diagnosis of Genetic Diseases; Elles, Rob; 2004 (Springer) – [only available as a Keele e-book]
Merritt's neurology; Louis, Elan D; Mayer, Stephan A; Rowland, Lewis P; 2016 (Lippincott Williams & Wilkins); 13th edition
Oxford textbook of neuromuscular disorders; Hilton-Jones, David; Turner, Martin R; 2014 (Oxford University Press) – [only available as an e-book – available for Keele & NHS users]
Fenichel’s Clinical Pediatric Neurology; James, Kaitlin; 2025 (Elsevier); 9th edition – [only available as an NHS e-book through ClinicalKey with an NHS Open Athens login]
Swaiman’s Pediatric Neurology; Ashwal, Stephen; 2026 (Elsevier); 7th edition - [only available as an NHS e-book through ClinicalKey with an NHS Open Athens login]
JOURNALS
European journal of paediatric neurology (Online); European Paediatric Neurology Society (Elsevier) – available as a Keele e-journal from 1997 onwards and for UHNM via Clinical Key 2007 onwards.
Annals of neurology (Online); American Neurological Association & Child Neurology Society (Wiley) – available as a Keele e-journal from 1999 onwards.
Annals of the Child Neurology Society; Child Neurology Society (Wiley) – available as an Open Access e-journal from 2023 onwards.
Child neurology open; (Sage Publications) – available as an Open Access e-journal from 2014 onwards.
Neurology. Genetics; American Academy of Neurology (Lippincott Williams) – available as an Open Access e-journal from 2015 onwards.
BMJ neurology open; British Medical Association, issuing body; (British Medical Association) – available as an Open Access e-journal from 2019 onwards.
Journal of Rare Diseases; (Springer) - available as an Open Access e-journal from 2022 onwards.
Orphanet Journal of Rare Diseases; (BioMed Central) - available as an Open Access e-journal from 2006 onwards.
N.B. NHS members can obtain temporary Keele IT logins to view Keele e-journals from the Keele IT suite in the Health Library at Royal Stoke. NHS ejournals will require login with an NHS Open Athens account.
Access more journals via our Journals webpage: http://www.keele.ac.uk/healthlibrary/find/journals/
OPEN ACCESS JOURNAL ARTICLES
“Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy”; Cooper, Katy; Nalbant, Gamze; et al; International journal of neonatal screening, 2024-09, Vol.10 (3), p.49. doi: 10.3390/ijns10030049.
“Outcomes of early‐treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study”; Goedeker, Natalie L; Rogers, Amanda; Fisher, Market al; Muscle & nerve, 2024-12, Vol.70 (6), p.1247-1256. doi: 10.1002/mus.28267
“Early Treatment in Preterm Twins With Spinal Muscular Atrophy”; Bistritzer, Jacob; Avital, Dekel; olan-Tripto, Inbal; Abramsky, Ramy; Noyman, Iris; Journal of child neurology, 2025-05, Vol.40 (5), p.371-373. doi: doi.org/10.1177/08830738251322224
“Treatment Options in Spinal Muscular Atrophy: A Pragmatic Approach for Clinicians”; Ramdas, Sithara; Oskoui, Maryam; Servais, Laurent; Drugs (New York, N.Y.), 2024-07, Vol.84 (7), p.747-762. doi: 10.1007/s40265-024-02051-2
“Outcomes of early‐treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study”; Goedeker, Natalie L; Rogers, Amanda; Fisher, Mark; Arya, Kapil; et al; Muscle & nerve, 2024-12, Vol.70 (6), p.1247-1256. doi: 10.1002/mus.28267
“The Critical Importance of Early and Combination Treatment for Spinal Muscular Atrophy Type”; Sweat, Marie; Skalsky, Andrew; Muscle & nerve, 2025-03, Vol.71 (3), p.290-292. doi: 10.1002/mus.28345.
“Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.”; Nishio, Hisahide et al; International Journal of Molecular Sciences, 2023, Vol. 24 (15):11939. doi: 10.3390/ijms241511939.
“Challenges and opportunities in spinal muscular atrophy therapeutics.”; Yeo, Crystal JJ; Tizzano, Eduardo F.; Darras, Basil T.; Lancet Neurology. 2024 Feb;23(2):205-218. doi: 10.1016/S1474-4422(23)00419-2.
"Getting ready for the adult world": how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being.”; Wan, Hamish W. Y.; et al.; Orphanet Journal of Rare Diseases, 2019, Vol. 14 (1) : article.74. doi: 10.1186/s13023-019-1052-2.
“Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review.”; Wan, Hamish W. Y.; et al.; Orphanet Journal of Rare Diseases; 2020; Vol. 15 (1) : article 70. doi: 10.1186/s13023-020-1339-3.
PATIENT INFORMATION / PATIENT ADVICE:
NHS website:
Spinal muscular atrophy (SMA) - https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/
Newborn blood spot test - https://www.nhs.uk/baby/newborn-screening/blood-spot-test/
Charities / Further information:
Spinal Muscular Atrophy UK - https://smauk.org.uk/
SMA Care UK - https://smauk.org.uk/
Muscular Dystrophy UK - https://www.musculardystrophyuk.org/
KnowledgeShare CURRENT AWARENESS:
KnowledgeShare Evidence Updates is a personalised current awareness service which sends, straight to your email inbox, new evidence on topics tailored to your requirements and collated by Health Librarians. For more information, or to register for KnowledgeShare please go to https://www.keele.ac.uk/healthlibrary/find/currentawareness/.