{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T03:28:37Z","timestamp":1792985317156,"version":"4.5.0"},"reference-count":34,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T00:00:00Z","timestamp":1759363200000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000691","name":"Academy of Medical Sciences","doi-asserted-by":"publisher","award":["APR8\\1017"],"award-info":[{"award-number":["APR8\\1017"]}],"id":[{"id":"10.13039\/501100000691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Objectives<\/jats:title>\n                    <jats:p>Camptocormia, a pathological forward flexion of the spine, is a relatively common but often unexplained postural abnormality. Facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent adult myopathies, is caused by a contraction of D4Z4 repeats on chromosome 4 and typically presents with facial, scapular, and lower limb weakness. However, atypical phenotypes are increasingly recognized. We investigated camptocormia as a presenting feature of FSHD in a large neuromuscular cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This cross\u2010sectional study assessed clinical, genetic, and muscle imaging features in patients with FSHD presenting with camptocormia and compared them to patients with typical FSHD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 87 patients with genetically confirmed FSHD, 8 (9.1%) had camptocormia as the predominant and initial manifestation. FSHD also accounted for 47% (8\/17) of all cases of camptocormia due to axial myopathy. Compared to classical FSHD, camptocormic patients exhibited later disease onset, moderately contracted D4Z4 repeats, and marked axial involvement, with predominant spinal extensor weakness and relatively preserved abdominal strength. Muscle MRI revealed more severe paravertebral involvement and milder serratus anterior involvement than typically observed in FSHD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Camptocormia represents a relatively frequent and distinct phenotypic variant of FSHD, particularly in older adults. Conversely, FSHD is a common cause of camptocormia due to axial myopathy. These findings expand the clinical spectrum of FSHD and underscore the importance of considering FSHD in the differential diagnosis of camptocormia, even in the absence of typical clinical signs of FSHD. Muscle imaging may assist in identifying FSHD\u2010associated camptocormia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.70332","type":"journal-article","created":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T18:08:58Z","timestamp":1759428538000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features"],"prefix":"10.1111","volume":"32","author":[{"given":"Eleonora","family":"Torchia","sequence":"first","affiliation":[{"name":"Department of Neuroscience Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Vandeputte","sequence":"additional","affiliation":[{"name":"Neurology Department CHU d'Angers  Angers France"},{"name":"Neuromuscular Reference Center, Department of Neurology CHU d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Monforte","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"},{"name":"UOC di Neurologia Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charl\u00e8ne","family":"Gillet","sequence":"additional","affiliation":[{"name":"Neurology Department CHU d'Angers  Angers France"},{"name":"Neuromuscular Reference Center, Department of Neurology CHU d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Verny","sequence":"additional","affiliation":[{"name":"Neurology Department CHU d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafaelle","family":"Bernard","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory CHU La Timone  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Tasca","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre Newcastle University and Newcastle Hospitals NHS Foundation Trusts  Newcastle Upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Spinazzi","sequence":"additional","affiliation":[{"name":"Neurology Department CHU d'Angers  Angers France"},{"name":"Neuromuscular Reference Center, Department of Neurology CHU d'Angers  Angers France"},{"name":"MITOLAB INSERM U1083  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,2]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Pathological and Surgical Observations on the Diseases of the Joints","author":"Brodie B.","year":"1818"},{"issue":"3","key":"e_1_2_8_3_1","first-page":"169","article-title":"Camptocormia in the Elderly. 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