{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T22:22:39Z","timestamp":1788819759824,"version":"build-2803163510"},"reference-count":48,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T00:00:00Z","timestamp":1747958400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NIH Clinical Center"},{"name":"National Institute of Neurological Disorders and Stroke"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology International"],"abstract":"<jats:p>Introduction: Spinal and bulbar muscular atrophy (SBMA) is an adult-onset, X-linked, progressive neuromuscular disease caused by abnormal CAG trinucleotide expansion in the androgen receptor gene. Patients with SBMA report difficulty with falls on self-reported activities of daily living scales. To our knowledge, no study has examined the relationship between falls and common clinical measures of strength, balance, mobility, and disease biomarkers. We performed a cross-sectional analysis of an SBMA cohort. Objectives: The objectives of this study are as follows: (1) compare demographics, clinical measures, and biomarkers between patients who did and did not fall; (2) determine which measures best discriminate fallers from non-fallers; and (3) identify cutoff scores to detect patients with a higher fall risk. Design: Cross-sectional analysis was used. Outcome Measures: Disease biomarkers included blood serum creatinine, and clinical measures included the Timed Up and Go (TUG), the Adult Myopathy Assessment Tool (AMAT), and posturography, including the Modified Clinical Test of Sensory Interaction on Balance and the Motor Control Test. The Maximal Voluntary Isometric Contractions (MVICs) of four lower extremity muscles were captured via fixed-frame dynamometry. Results: We identified three clinical measures that help detect fall risk in people with SBMA. A post hoc receiver operating characteristic curve analysis helped identify cut scores for each test. Impairments of mobility (TUG &gt; 8 s), muscle endurance (AMAT endurance subscale &lt; 14), and muscle strength (ankle plantar flexion MVIC &lt; 45% of predicted) were different between fallers and non-fallers, via independent t-tests. Conclusions: These three clinical tests can help detect fall risk that may help clinicians implement gait aid use or other fall prevention strategies before catastrophic falls occur.<\/jats:p>","DOI":"10.3390\/neurolint17060080","type":"journal-article","created":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T06:35:09Z","timestamp":1747982109000},"page":"80","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identifying Clinical Measures Related to Falls in Ambulatory Patients with Spinal and Bulbar Muscular Atrophy"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8174-0745","authenticated-orcid":false,"given":"Joseph A.","family":"Shrader","sequence":"first","affiliation":[{"name":"Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison C.","family":"Niemic","sequence":"additional","affiliation":[{"name":"Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Jim\u00e9nez-Silva","sequence":"additional","affiliation":[{"name":"Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua G.","family":"Woolstenhulme","sequence":"additional","affiliation":[{"name":"Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galen O.","family":"Joe","sequence":"additional","affiliation":[{"name":"Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-7542-2646","authenticated-orcid":false,"given":"Uma","family":"Jacobs","sequence":"additional","affiliation":[{"name":"Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwini","family":"Sansare","sequence":"additional","affiliation":[{"name":"Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Kokkinis","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth","family":"Fischbeck","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Grunseich","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4632-7941","authenticated-orcid":false,"given":"Cris","family":"Zampieri","sequence":"additional","affiliation":[{"name":"Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1212\/WNL.18.7.671","article-title":"Progressive proximal spinal and bulbar muscular atrophy of late onset: A sex-linked recessive trait","volume":"18","author":"Kennedy","year":"1968","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/352077a0","article-title":"Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy","volume":"352","author":"Wilson","year":"1991","journal-title":"Nature"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1093\/brain\/112.1.209","article-title":"X-linked recessive bulbospinal neuronopathy","volume":"112","author":"Sobue","year":"1989","journal-title":"Brain"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.jns.2007.08.012","article-title":"Spinal and bulbar muscular atrophy: Skeletal muscle pathology in male patients and heterozygous females","volume":"264","author":"Polo","year":"2008","journal-title":"J. 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