{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T23:10:23Z","timestamp":1771888223253,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,11,30]],"date-time":"2016-11-30T00:00:00Z","timestamp":1480464000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Late\u2010onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available. <jats:italic>Methods<\/jats:italic>: Having diagnosed a case of LOPD presenting with bent spine syndrome, we conducted a brief survey in the French centers involved in management of Pompe disease, from which we collected data on 3 other cases. <jats:italic>Results<\/jats:italic>: The patients (3 women and 1 man) had a mean age of 64 years (range 51\u201377 years) and a delay in diagnosis of approximately 10 years (range 8\u201342 years). At diagnosis, 3 patients already had respiratory symptoms. All had normal or very mildly raised creatine kinase levels and magnetic resonance imaging abnormalities in the paraspinal muscles. They exhibited the most frequent mutation in Pompe disease (c.\u201032\u201013\u2009T&gt;G). <jats:italic>Conclusion<\/jats:italic>: Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>56<\/jats:bold>: 167\u2013170, 2017<\/jats:p>","DOI":"10.1002\/mus.25478","type":"journal-article","created":{"date-parts":[[2016,11,16]],"date-time":"2016-11-16T19:22:33Z","timestamp":1479324153000},"page":"167-170","source":"Crossref","is-referenced-by-count":11,"title":["Bent spine syndrome as the initial symptom of late\u2010onset Pompe disease"],"prefix":"10.1002","volume":"56","author":[{"given":"Nicolas","family":"Taisne","sequence":"first","affiliation":[{"name":"Rhumatologie, H\u00f4pital Roger Salengro, Universit\u00e9 de Lille 2, Centre Hospitalier R\u00e9gional Universitaire de Lille Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"Desnuelle","sequence":"additional","affiliation":[{"name":"Syst'me nerveux p\u00e9riph\u00e9rique, muscle et SLA, Hopital Pasteur 2, CHU de Nice Nice France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raul","family":"Juntas Morales","sequence":"additional","affiliation":[{"name":"H\u00f4pital Gui\u2010de\u2010Chauliac, service de neurologie, clinique du motoneurone, Inserm 1051 34925 Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Ferrer Monasterio","sequence":"additional","affiliation":[{"name":"Neurologie, H\u00f4pital Pellegrin, CHU Bordeaux Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Sacconi","sequence":"additional","affiliation":[{"name":"Syst'me nerveux p\u00e9riph\u00e9rique, muscle et SLA, Hopital Pasteur 2, CHU de Nice Nice France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanny","family":"Duval","sequence":"additional","affiliation":[{"name":"Neurologie, H\u00f4pital Pellegrin, CHU Bordeaux Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guilhem","family":"Sole","sequence":"additional","affiliation":[{"name":"Neurologie, H\u00f4pital Pellegrin, CHU Bordeaux Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9 Marc","family":"Flipo","sequence":"additional","affiliation":[{"name":"Rhumatologie, H\u00f4pital Roger Salengro, Universit\u00e9 de Lille 2, Centre Hospitalier R\u00e9gional Universitaire de Lille Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnaud","family":"Lacour","sequence":"additional","affiliation":[{"name":"Universitaire Lille, CHU Lille, Clinique Neurologique, Centre de r\u00e9f\u00e9rence maladies rares d'origine neuro\u2010musculaire Lille 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