{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T23:57:29Z","timestamp":1766447849144,"version":"3.48.0"},"reference-count":20,"publisher":"Georg Thieme Verlag KG","issue":"12","license":[{"start":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T00:00:00Z","timestamp":1766361600000},"content-version":"vor","delay-in-days":21,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Fatigue is a frequent and under-recognized symptom in adults with spinal muscular atrophy (SMA). Although motor scales can detect disease progression, they may be insufficiently sensitive over short observation periods, particularly in patients with slower progression.<\/jats:p>\n                  <jats:p>To assess the prevalence and longitudinal course of fatigue in adult SMA patients using validated instruments. General perceived fatigue was assessed using the Fatigue Severity Scale (FSS), while the Modified Fatigue Impact Scale (MFIS) was used to evaluate multidimensional fatigue\u2014comprising the physical, cognitive, and psychosocial domains. Additionally, we explored associations with motor function, neurophysiological parameters, and treatment status.<\/jats:p>\n                  <jats:p>Twenty-five adults with genetically confirmed SMA were evaluated at baseline and after one year using the FSS and MFIS. Motor function was measured by the Hammersmith Functional Motor Scale \u2013 Expanded, Revised Upper Limb Module (RULM), and Motor Function Measurement (MFM); neurophysiological assessment included Compound Muscle Action Potential (CMAP), Motor Unit Number Index (MUNIX) and repetitive nerve stimulation. Patients were stratified by fatigue status and use of disease-modifying therapies.<\/jats:p>\n                  <jats:p>Significant fatigue (FSS\u2009&gt;\u20094) was observed in 60% of patients at baseline and 56% at follow-up. After 1 year, the prevalence of fatigue was significantly lower in treated patients (33.3%) compared to untreated ones (75%; p\u2009=\u20090.04). The MFIS scores remained stable across the physical, cognitive, and psychosocial domains. No associations were found between fatigue severity and age, disease duration, motor scale scores, or neurophysiological parameters.<\/jats:p>\n                  <jats:p>Fatigue is highly prevalent in adults with SMA and does not correlate with disease severity or motor\/neurophysiological measures. Patients receiving disease-modifying therapies showed lower fatigue frequency, reinforcing the relevance of fatigue as a meaningful patient-reported outcome in this population.<\/jats:p>","DOI":"10.1055\/s-0045-1814377","type":"journal-article","created":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T23:54:24Z","timestamp":1766447664000},"page":"001-006","source":"Crossref","is-referenced-by-count":0,"title":["Longitudinal evaluation of fatigue in adult patients with spinal muscular atrophy and the impact of disease-modifying drugs"],"prefix":"10.1055","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8318-9766","authenticated-orcid":false,"given":"Felipe Franco da","family":"Gra\u00e7a","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Neurologia, Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2884-2678","authenticated-orcid":false,"given":"Cristina","family":"Iwabe","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Neurologia, Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0898-2419","authenticated-orcid":false,"given":"Marcondes Cavalcante","family":"Fran\u00e7a Jr","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Neurologia, Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2025,12,22]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens","volume":"20","author":"E A Sugarman","year":"2012","journal-title":"Eur J Hum Genet"},{"issue":"02","key":"ref2","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"E Mercuri","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"01","key":"ref3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1055\/s-0044-1779503","article-title":"Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy","volume":"82","author":"E Zanoteli","year":"2024","journal-title":"Arq Neuropsiquiatr"},{"issue":"10","key":"ref4","doi-asserted-by":"publisher","first-page":"3458","DOI":"10.3390\/jcm12103458","article-title":"Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities","volume":"12","author":"R S Rodriguez-Torres","year":"2023","journal-title":"J Clin Med"},{"issue":"06","key":"ref5","doi-asserted-by":"publisher","first-page":"2161","DOI":"10.1007\/s40120-023-00552-y","article-title":"Evaluating perceived fatigue within an adult spinal muscular atrophy population","volume":"12","author":"L Belter","year":"2023","journal-title":"Neurol Ther"},{"issue":"01","key":"ref6","doi-asserted-by":"publisher","first-page":"109","DOI":"10.3233\/JND-180342","article-title":"Perceived Fatigue in Spinal Muscular Atrophy: A Pilot Study","volume":"6","author":"S Dunaway Young","year":"2019","journal-title":"J Neuromuscul Dis"},{"issue":"03","key":"ref7","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.nmd.2020.12.004","article-title":"Multidimensional fatigue assessment and its relation to motor and cognitive function in adult spinal muscular atrophy patients","volume":"31","author":"C Binz","year":"2021","journal-title":"Neuromuscul Disord"},{"issue":"03","key":"ref8","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1007\/s00415-020-10227-5","article-title":"An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment","volume":"268","author":"C Binz","year":"2021","journal-title":"J Neurol"},{"issue":"02","key":"ref9","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/j.nmd.2015.10.006","article-title":"Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials","volume":"26","author":"E Mercuri","year":"2016","journal-title":"Neuromuscul Disord"},{"issue":"07","key":"ref10","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1590\/S0004-282X2012000700005","article-title":"Valida\u00e7\u00e3o e reprodutibilidade da vers\u00e3o brasileira da escala de gravidade de fadiga em pacientes com doen\u00e7a de Parkinson","volume":"70","author":"S Valderramas","year":"2012","journal-title":"Arq Neuropsiquiatr"},{"issue":"10","key":"ref11","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1001\/archneur.1989.00520460115022","article-title":"The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus","volume":"46","author":"L B Krupp","year":"1989","journal-title":"Arch Neurol"},{"issue":"08","key":"ref12","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1590\/0004-282X20200033","article-title":"Fatigue in Parkinson's disease: Brazilian validation of the modified fatigue impact scale","volume":"78","author":"J Lopes","year":"2020","journal-title":"Arq Neuropsiquiatr"},{"issue":"03","key":"ref13","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1055\/s-0045-1805072","article-title":"Brazilian Portuguese version of the revised upper-limb module: cross-cultural adaptation and validation","volume":"83","author":"M C Artilheiro","year":"2025","journal-title":"Arq Neuropsiquiatr"},{"issue":"07","key":"ref14","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1055\/s-0044-1788587","article-title":"Brazilian version of the Hammersmith Functional Motor Scale Expanded: cross-cultural adaptation and validation","volume":"82","author":"A CML Moura","year":"2024","journal-title":"Arq Neuropsiquiatr"},{"issue":"05","key":"ref15","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1590\/S1413-35552008000500012","article-title":"Motor function measure scale: Portuguese version and reliability analysis","volume":"12","author":"C Iwabe","year":"2008","journal-title":"Braz J Phys Ther"},{"issue":"11","key":"ref16","doi-asserted-by":"publisher","first-page":"1956","DOI":"10.1212\/wnl.45.11.1956","article-title":"Fatigue therapy in multiple sclerosis: results of a double-blind, randomized, parallel trial of amantadine, pemoline, and placebo","volume":"45","author":"L B Krupp","year":"1995","journal-title":"Neurology"},{"issue":"04","key":"ref17","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1016\/j.neurop.2022.06.008","article-title":"Physical fatigue and perceived fatigability in adolescents and adults with spinal muscular atrophy: A pilot study","volume":"2","author":"M C Domine","year":"2022","journal-title":"Neurol Perspect"},{"issue":"03","key":"ref18","doi-asserted-by":"publisher","first-page":"800","DOI":"10.1016\/j.clinph.2020.11.044","article-title":"Motor unit reserve capacity in spinal muscular atrophy during fatiguing endurance performance","volume":"132","author":"L E Habets","year":"2021","journal-title":"Clin Neurophysiol"},{"issue":"01","key":"ref19","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1002\/mus.24081","article-title":"Leg muscle function and fatigue during walking in spinal muscular atrophy type 3","volume":"50","author":"J Montes","year":"2014","journal-title":"Muscle Nerve"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.clinph.2023.06.024","article-title":"Enhanced low-threshold motor unit capacity during endurance tasks in patients with spinal muscular atrophy using pyridostigmine","volume":"154","author":"L E Habets","year":"2023","journal-title":"Clin Neurophysiol"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0045-1814377.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T23:54:25Z","timestamp":1766447665000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0045-1814377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":20,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2025,7,15]]},"published-print":{"date-parts":[[2025,12]]}},"alternative-id":["s00451814377"],"URL":"https:\/\/doi.org\/10.1055\/s-0045-1814377","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0004-282X","1678-4227"],"issn-type":[{"value":"0004-282X","type":"print"},{"value":"1678-4227","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]}}}