MRI-derived 3D lower limb muscle shape: a biomarker for disease severity in Duchenne muscular dystrophy?

MRI-derived 3D lower limb muscle shape: a biomarker for disease severity in Duchenne muscular dystrophy? | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Article MRI-derived 3D lower limb muscle shape: a biomarker for disease severity in Duchenne muscular dystrophy? Nathan Decaux, François Rousseau, Pierre-Henri Conze, Christelle Pons, and 3 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-6791317/v1 This work is licensed under a CC BY 4.0 License Status: Under Revision Version 1 posted 11 You are reading this latest preprint version Abstract Duchenne muscular dystrophy (DMD) is characterized by progressive muscle degeneration leading to loss of gait. Identification of predictive biomarkers of gait loss is crucial, yet analysis of muscle shape remains underexplored. Using MRI data from 17 children with DMD (10 followed by gait loss) and 10 healthy controls, we analyzed the muscle shapes and volumes of the lower limbs. Correlations with functional metrics (gait tests, dynamometric forces) were evaluated, and predictive modeling tasks (classification and regression) were performed via random forests. Compared with those of the controls, the key muscle groups, particularly the soleus and gastrocnemius, of DMD patients presented distinct patterns, including increased thickness and reduced extensibility, without significant volume differences. Compared with traditional biomarkers, predictive models based on shape descriptors achieved 100% accuracy in distinguishing controls from DMD patients and reduced the error in predicting time to gait loss to 110 days. This study highlights the potential of muscle shape analysis as a reproducible and acquisition-independent biomarker. This study provides novel insights into the progression of DMD, highlighting early changes in the superficial muscles of the posterior compartment as robust indicators of functional decline. Despite the small cohort, these findings support the integration of geometric biomarkers into clinical monitoring. Health sciences/Biomarkers/Predictive markers Health sciences/Anatomy/Musculoskeletal system/Muscle Health sciences/Medical research/Paediatric research Physical sciences/Mathematics and computing/Applied mathematics Full Text Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Revision Version 1 posted Editorial decision: Revision requested 18 Sep, 2025 Reviews received at journal 17 Sep, 2025 Reviewers agreed at journal 09 Sep, 2025 Reviews received at journal 09 Sep, 2025 Reviewers agreed at journal 08 Sep, 2025 Reviewers agreed at journal 15 Aug, 2025 Reviewers agreed at journal 12 Aug, 2025 Reviewers invited by journal 11 Aug, 2025 Editor assigned by journal 10 Jul, 2025 Submission checks completed at journal 30 Jun, 2025 First submitted to journal 30 Jun, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-6791317","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":501122333,"identity":"7f17eaa7-e06d-4acc-8e0a-8e37d993e10d","order_by":0,"name":"Nathan Decaux","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA/UlEQVRIiWNgGAWjYHACNhDB2ABmVxwAUwceMMjh0cGMrOXMAQYekJYEBmMitTC2QbQw4NNizn7+2IOfOxhk+9kPP5PmnXdHzl7s8EOgLQb5uLRY9iSzG/aeYTCe2ZNmJjlz2zNjHuk0A5AWywYcWgwOJLNJ8LYxJG64wWAm8XHb4cQe6QSQlj8GuGwxOP+YTfIvUMv+G+zfJBLngLSkfwDZglvLjWQ2abAtEjxAWxpAWnIMCGh5bCYt2yZhPONMTrHljGOHjXlu5xQcSDDAo+V84jPJt202sv3txzfe5qk5LMc+O33zhw8VuLVAgQSGUQQ0jIJRMApGwSjACwAjZlhoHn4CvAAAAABJRU5ErkJggg==","orcid":"","institution":"LaTIM UMR 1101","correspondingAuthor":true,"prefix":"","firstName":"Nathan","middleName":"","lastName":"Decaux","suffix":""},{"id":501122334,"identity":"2a692406-dfa3-4630-aa8e-2be326016a96","order_by":1,"name":"François Rousseau","email":"","orcid":"","institution":"LaTIM UMR 1101","correspondingAuthor":false,"prefix":"","firstName":"François","middleName":"","lastName":"Rousseau","suffix":""},{"id":501122335,"identity":"8e1d6464-211c-45d0-b53e-2137ba3ba957","order_by":2,"name":"Pierre-Henri Conze","email":"","orcid":"","institution":"LaTIM UMR 1101","correspondingAuthor":false,"prefix":"","firstName":"Pierre-Henri","middleName":"","lastName":"Conze","suffix":""},{"id":501122336,"identity":"ac8adf81-df6f-41bc-b2b0-7c8bab869cb2","order_by":3,"name":"Christelle Pons","email":"","orcid":"","institution":"LaTIM UMR 1101","correspondingAuthor":false,"prefix":"","firstName":"Christelle","middleName":"","lastName":"Pons","suffix":""},{"id":501122337,"identity":"bcf62a9d-5cd2-4fd7-93cc-2b63365db792","order_by":4,"name":"Douraied Ben Salem","email":"","orcid":"","institution":"LaTIM UMR 1101","correspondingAuthor":false,"prefix":"","firstName":"Douraied","middleName":"Ben","lastName":"Salem","suffix":""},{"id":501122338,"identity":"ad32cf8a-3f2e-4e6d-bd0a-16544f80aa5e","order_by":5,"name":"Sylvain Brochard","email":"","orcid":"","institution":"LaTIM UMR 1101","correspondingAuthor":false,"prefix":"","firstName":"Sylvain","middleName":"","lastName":"Brochard","suffix":""},{"id":501122341,"identity":"01b95e31-d5f6-4086-9ff9-8a462ade70e3","order_by":6,"name":"Juliette Ropars","email":"","orcid":"","institution":"LaTIM UMR 1101","correspondingAuthor":false,"prefix":"","firstName":"Juliette","middleName":"","lastName":"Ropars","suffix":""}],"badges":[],"createdAt":"2025-05-31 13:53:22","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-6791317/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-6791317/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":89350136,"identity":"6a81dc95-92e6-4f71-9cba-644ae3f0996c","added_by":"auto","created_at":"2025-08-19 05:56:33","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":3872571,"visible":true,"origin":"","legend":"","description":"","filename":"sprznmdsgwhnwhnwqshztbhmtgyrjvnt.pdf","url":"https://assets-eu.researchsquare.com/files/rs-6791317/v1_covered_32103057-2157-4e32-a5ac-684c5e82b5e7.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"MRI-derived 3D lower limb muscle shape: a biomarker for disease severity in Duchenne muscular dystrophy?","fulltext":[],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":false,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":true,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":true,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"scientific-reports","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"scirep","sideBox":"Learn more about [Scientific Reports](http://www.nature.com/srep/)","snPcode":"","submissionUrl":"","title":"Scientific Reports","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Scientific Reports","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"","lastPublishedDoi":"10.21203/rs.3.rs-6791317/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-6791317/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"Duchenne muscular dystrophy (DMD) is characterized by progressive muscle degeneration leading to loss of gait. Identification of predictive biomarkers of gait loss is crucial, yet analysis of muscle shape remains underexplored. Using MRI data from 17 children with DMD (10 followed by gait loss) and 10 healthy controls, we analyzed the muscle shapes and volumes of the lower limbs. Correlations with functional metrics (gait tests, dynamometric forces) were evaluated, and predictive modeling tasks (classification and regression) were performed via random forests. Compared with those of the controls, the key muscle groups, particularly the soleus and gastrocnemius, of DMD patients presented distinct patterns, including increased thickness and reduced extensibility, without significant volume differences. Compared with traditional biomarkers, predictive models based on shape descriptors achieved 100\\% accuracy in distinguishing controls from DMD patients and reduced the error in predicting time to gait loss to 110 days. This study highlights the potential of muscle shape analysis as a reproducible and acquisition-independent biomarker. This study provides novel insights into the progression of DMD, highlighting early changes in the superficial muscles of the posterior compartment as robust indicators of functional decline. Despite the small cohort, these findings support the integration of geometric biomarkers into clinical monitoring.","manuscriptTitle":"MRI-derived 3D lower limb muscle shape: a biomarker for disease severity in Duchenne muscular dystrophy?","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-08-19 05:48:23","doi":"10.21203/rs.3.rs-6791317/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2025-09-18T20:20:39+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-09-17T23:30:35+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"47820428549458724320994552717539563969","date":"2025-09-09T19:13:10+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-09-09T14:11:41+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"35428033843948133857930758649937209507","date":"2025-09-08T17:00:10+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"158730962203879515758892540472123651889","date":"2025-08-15T17:46:11+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"139751530294231951351696842341206435254","date":"2025-08-12T06:14:45+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2025-08-11T22:12:20+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-07-10T10:58:00+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-06-30T08:54:49+00:00","index":"","fulltext":""},{"type":"submitted","content":"Scientific Reports","date":"2025-06-30T08:49:07+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"scientific-reports","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"scirep","sideBox":"Learn more about [Scientific Reports](http://www.nature.com/srep/)","snPcode":"","submissionUrl":"","title":"Scientific Reports","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Scientific Reports","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"9d7ee1e8-7e5e-4601-8d00-6e18a71e6b04","owner":[],"postedDate":"August 19th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"in-revision","subjectAreas":[{"id":53235267,"name":"Health sciences/Biomarkers/Predictive markers"},{"id":53235268,"name":"Health sciences/Anatomy/Musculoskeletal system/Muscle"},{"id":53235269,"name":"Health sciences/Medical research/Paediatric research"},{"id":53235270,"name":"Physical sciences/Mathematics and computing/Applied mathematics"}],"tags":[],"updatedAt":"2026-05-05T21:39:01+00:00","versionOfRecord":[],"versionCreatedAt":"2025-08-19 05:48:23","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-6791317","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-6791317","identity":"rs-6791317","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}