{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:06:44Z","timestamp":1753891604229,"version":"3.41.2"},"reference-count":36,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T00:00:00Z","timestamp":1733270400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Fatigue and gait speed are established determinants of fall risk in patients with neurological disorders. However, data on adults with spinal muscular atrophy (SMA) is limited. The aim of this pilot study was to investigate falls and risk factors in adults with SMA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective chart review of ambulatory adults with genetically confirmed 5q-SMA included: age, sex, age of symptom onset, SMN2 copy number, BMI, and 6MWT distance and speed at minutes 1, 2, and 6.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fourteen ambulatory patients were included in the analysis with an average follow-up of 36 months (range of 12\u201366 months). 10 patients were classified as fallers (F<jats:sub>all<\/jats:sub>) and four as non-fallers (NF<jats:sub>all<\/jats:sub>). One faller received Risdiplam, while the remaining fallers and non-fallers received Nusinersen for the duration of the follow-up period. In the F<jats:sub>all<\/jats:sub> cohort, the median speed at 1, 2, and 6 min were 0.92 m\/s, 0.89 m\/s, and 0.77 m\/s, respectively, with a heterogeneous range including one faller at 1.25 m\/s. In the NF<jats:sub>all<\/jats:sub> cohort, the slowest collected median recorded speeds were 1.18 m\/s, 1.11 m\/s, and 1.09 m\/s respectively, with one non-faller at 0.56 m\/s. There was no significant statistical difference between 6-min gait speeds and individuals experiencing falls. However, we found a three-fold greater decline in speed between the 6MWT first and last minute in the F<jats:sub>all<\/jats:sub> (13.01%) compared to the NF<jats:sub>all<\/jats:sub> (5.16%). 7 of 10 patients had multiple falls (70%) with two individuals consequently losing ambulation (20%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>These findings underscore the need for larger studies on fatigability and the importance of considering factors beyond gait speed alone.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2024.1491466","type":"journal-article","created":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T05:10:52Z","timestamp":1733289052000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["The association between gait speed and falls in ambulatory adults with spinal muscular atrophy: a retrospective pilot study"],"prefix":"10.3389","volume":"15","author":[{"given":"Kathryn","family":"Jira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Jaworek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matti","family":"Allen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Songzhu","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. David","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bakri","family":"Elsheikh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,12,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1001\/archneurol.2011.74","article-title":"Spinal muscular atrophy","volume":"68","author":"Kolb","year":"2011","journal-title":"Arch Neurol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"7896","DOI":"10.3390\/ijms22157896","article-title":"Genomic variability in the survival motor neuron genes (SMN1 and SMN2): implications for spinal muscular atrophy phenotype and therapeutics development","volume":"22","author":"Butchbach","year":"2021","journal-title":"Int J Mol Sci"},{"key":"ref3","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":"Sugarman","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"847","DOI":"10.3233\/JND-230011","article-title":"Sex difference in spinal muscular atrophy patients \u2013 are males more vulnerable?","volume":"10","author":"Sun","year":"2023","journal-title":"J Neuromuscul Dis"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"e530","DOI":"10.1212\/NXG.0000000000000530","article-title":"Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy","volume":"6","author":"Cusc\u00f3","year":"2020","journal-title":"Neurol Genet"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"1308296","DOI":"10.3389\/fneur.2024.1308296","article-title":"The impact of three SMN2 gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review. 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