{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T07:32:55Z","timestamp":1790839975742,"version":"4.1.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T00:00:00Z","timestamp":1644537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T00:00:00Z","timestamp":1644537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["W.OR12-22"],"award-info":[{"award-number":["W.OR12-22"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["W.OR18-07"],"award-info":[{"award-number":["W.OR18-07"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Objective<\/jats:title>\n                <jats:p>To evaluate the 5-year change in respiratory function in patients with facioscapulohumeral muscular dystrophy (FSHD).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Genetically confirmed patients with FSHD aged\u2009\u2265\u200918\u00a0years were examined twice over five years. Forced vital capacity (FVC) and forced expiratory volume in 1\u00a0s (FEV1) were measured using hand-held spirometry with a face mask. Several clinical outcome measures were correlated to respiratory function.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Ninety-two patients were included (57% male, age 18\u201375\u00a0years). At baseline, the spirometry outcomes of 41 patients showed a restrictive ventilatory pattern (FVC\u2009&lt;\u200980% and FEV1\/FVC\u2009\u2265\u200970% of predicted) and of 48 patients at follow-up. The mean FVC decreased from baseline to follow-up from 79.0 to 76.7% predicted (<jats:italic>p<\/jats:italic>\u2009=\u20090.021). This decrease was driven by a subgroup of 15 patients who had a deterioration of FVC of\u2009&gt;\u200910% predicted. The subgroup of 15 patients was more severely affected at baseline (<jats:italic>p<\/jats:italic>\u2009=\u20090.002 for FSHD clinical score and 0.007 for Ricci score). They developed more frequently spinal and thorax deformities (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001 for kyphoscoliosis and 0.012 for pectus excavatum) and had a larger decline in axial muscle function (<jats:italic>p<\/jats:italic>\u2009=\u20090.020). Only weak correlations were found between the change in FVC% predicted and the change in clinical scores between baseline and follow-up<jats:bold>.<\/jats:bold><\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Interpretation<\/jats:title>\n                <jats:p>Respiratory function remained stable in most patients with FSHD, but a subgroup of patients showed a pronounced deterioration. They showed more severe muscle weakness including the leg muscles at baseline (Ricci score\u2009\u2265\u20096), had spinal and thorax deformities and a relatively fast decline in axial muscle function at follow-up.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-022-10990-7","type":"journal-article","created":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T07:02:42Z","timestamp":1644562962000},"page":"3682-3689","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy"],"prefix":"10.1007","volume":"269","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1023-2182","authenticated-orcid":false,"given":"Sjan","family":"Teeselink","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0412-0670","authenticated-orcid":false,"given":"Sanne C. C.","family":"Vincenten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5837-7295","authenticated-orcid":false,"given":"Nicol C.","family":"Voermans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3436-2475","authenticated-orcid":false,"given":"Jan T.","family":"Groothuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4157-1649","authenticated-orcid":false,"given":"Jonne","family":"Doorduin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3809-5725","authenticated-orcid":false,"given":"Peter J.","family":"Wijkstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2440-9180","authenticated-orcid":false,"given":"Corinne G. C.","family":"Horlings","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9867-9047","authenticated-orcid":false,"given":"Baziel G. M.","family":"van Engelen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8487-9478","authenticated-orcid":false,"given":"Karlien","family":"Mul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,2,11]]},"reference":[{"issue":"12","key":"10990_CR1","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1212\/WNL.0000000000000797","volume":"83","author":"JC Deenen","year":"2014","unstructured":"Deenen JC, Arnts H, van der Maarel SM et al (2014) Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 83(12):1056\u20131059. https:\/\/doi.org\/10.1212\/WNL.0000000000000797","journal-title":"Neurology"},{"issue":"3","key":"10990_CR2","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1136\/practneurol-2015-001353","volume":"16","author":"K Mul","year":"2016","unstructured":"Mul K, Lassche S, Voermans NC, Padberg GW, Horlings CG, van Engelen BG (2016) What\u2019s in a name? The clinical features of facioscapulohumeral muscular dystrophy. Pract Neurol 16(3):201\u2013207. https:\/\/doi.org\/10.1136\/practneurol-2015-001353","journal-title":"Pract Neurol"},{"issue":"1","key":"10990_CR3","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1212\/01.wnl.0000133126.86377.e8","volume":"63","author":"M Wohlgemuth","year":"2004","unstructured":"Wohlgemuth M, van der Kooi EL, van Kesteren RG, van der Maarel SM, Padberg GW (2004) Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology 63(1):176\u2013178. https:\/\/doi.org\/10.1212\/01.wnl.0000133126.86377.e8","journal-title":"Neurology"},{"issue":"5","key":"10990_CR4","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1002\/mus.24218","volume":"50","author":"MA Scully","year":"2014","unstructured":"Scully MA, Eichinger KJ, Donlin-Smith CM, Tawil R, Statland JM (2014) Restrictive lung involvement in facioscapulohumeral muscular dystrophy. Muscle Nerve 50(5):739\u2013743. https:\/\/doi.org\/10.1002\/mus.24218","journal-title":"Muscle Nerve"},{"issue":"6","key":"10990_CR5","doi-asserted-by":"publisher","first-page":"1271","DOI":"10.1007\/s00415-017-8525-9","volume":"264","author":"S Moreira","year":"2017","unstructured":"Moreira S, Wood L, Smith D et al (2017) Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy. J Neurol 264(6):1271\u20131280. https:\/\/doi.org\/10.1007\/s00415-017-8525-9","journal-title":"J Neurol"},{"issue":"1\u20132","key":"10990_CR6","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/j.jns.2011.03.045","volume":"306","author":"MG D'Angelo","year":"2011","unstructured":"D\u2019Angelo MG, Romei M, Lo Mauro A et al (2011) Respiratory pattern in an adult population of dystrophic patients. J Neurol Sci 306(1\u20132):54\u201361. https:\/\/doi.org\/10.1016\/j.jns.2011.03.045","journal-title":"J Neurol Sci"},{"issue":"4","key":"10990_CR7","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1212\/WNL.0000000000001783","volume":"85","author":"R Tawil","year":"2015","unstructured":"Tawil R, Kissel JT, Heatwole C et al (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology 85(4):357\u2013364. https:\/\/doi.org\/10.1212\/WNL.0000000000001783","journal-title":"Neurology"},{"issue":"6","key":"10990_CR8","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1002\/mus.26717","volume":"60","author":"C Henke","year":"2019","unstructured":"Henke C, Spiesshoefer J, Kabitz HJ et al (2019) Respiratory muscle weakness in facioscapulohumeral muscular dystrophy. Muscle Nerve 60(6):679\u2013686. https:\/\/doi.org\/10.1002\/mus.26717","journal-title":"Muscle Nerve"},{"issue":"6","key":"10990_CR9","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1016\/j.nmd.2017.03.008","volume":"27","author":"M Wohlgemuth","year":"2017","unstructured":"Wohlgemuth M, Horlings CGC, van der Kooi EL et al (2017) Respiratory function in facioscapulohumeral muscular dystrophy 1. Neuromuscul Disord 27(6):526\u2013530. https:\/\/doi.org\/10.1016\/j.nmd.2017.03.008","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10990_CR10","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1002\/mus.10487","volume":"29","author":"C Perrin","year":"2004","unstructured":"Perrin C, Unterborn JN, D\u2019Ambrosio C, Hill NS (2004) Pulmonary complications of chronic neuromuscular diseases and their management. Muscle Nerve 29(1):5\u201327. https:\/\/doi.org\/10.1002\/mus.10487","journal-title":"Muscle Nerve"},{"issue":"6","key":"10990_CR11","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1111\/cge.13446","volume":"94","author":"K Mul","year":"2018","unstructured":"Mul K, Voermans NC, Lemmers R et al (2018) Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1. Clin Genet 94(6):521\u2013527. https:\/\/doi.org\/10.1111\/cge.13446","journal-title":"Clin Genet"},{"issue":"6","key":"10990_CR12","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1183\/09031936.03.00028103","volume":"22","author":"M Wohlgemuth","year":"2003","unstructured":"Wohlgemuth M, van der Kooi EL, Hendriks JC, Padberg GW, Folgering HT (2003) Face mask spirometry and respiratory pressures in normal subjects. Eur Respir J 22(6):1001\u20131006. https:\/\/doi.org\/10.1183\/09031936.03.00028103","journal-title":"Eur Respir J"},{"issue":"7","key":"10990_CR13","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1016\/j.nmd.2005.03.004","volume":"15","author":"C B\u00e9rard","year":"2005","unstructured":"B\u00e9rard C, Payan C, Hodgkinson I, Fermanian J (2005) A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord 15(7):463\u2013470. https:\/\/doi.org\/10.1016\/j.nmd.2005.03.004","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"10990_CR14","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1002\/1531-8249(199906)45:6<751::Aid-Ana9>3.0.Co;2-M","volume":"45","author":"E Ricci","year":"1999","unstructured":"Ricci E, Galluzzi G, Deidda G et al (1999) Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol 45(6):751\u2013757. https:\/\/doi.org\/10.1002\/1531-8249(199906)45:6%3c751::Aid-Ana9%3e3.0.Co;2-M","journal-title":"Ann Neurol"},{"issue":"2","key":"10990_CR15","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1002\/mus.21671","volume":"42","author":"C Lamperti","year":"2010","unstructured":"Lamperti C, Fabbri G, Vercelli L et al (2010) A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score. Muscle Nerve 42(2):213\u2013217. https:\/\/doi.org\/10.1002\/mus.21671","journal-title":"Muscle Nerve"},{"issue":"8","key":"10990_CR16","doi-asserted-by":"publisher","first-page":"632","DOI":"10.1016\/j.nmd.2015.04.011","volume":"25","author":"DB Santos","year":"2015","unstructured":"Santos DB, Boussaid G, Stojkovic T et al (2015) Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 25(8):632\u2013639. https:\/\/doi.org\/10.1016\/j.nmd.2015.04.011","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"10990_CR17","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1002\/mus.21261","volume":"39","author":"JP Stubgen","year":"2009","unstructured":"Stubgen JP, Schultz C (2009) Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy. Muscle Nerve 39(6):729\u2013734. https:\/\/doi.org\/10.1002\/mus.21261","journal-title":"Muscle Nerve"},{"issue":"17","key":"10990_CR18","doi-asserted-by":"publisher","first-page":"1548","DOI":"10.1212\/WNL.0b013e3181f96175","volume":"75","author":"JC de Greef","year":"2010","unstructured":"de Greef JC, Lemmers RJLF, Camano P et al (2010) Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 75(17):1548\u20131554. https:\/\/doi.org\/10.1212\/WNL.0b013e3181f96175","journal-title":"Neurology"},{"key":"10990_CR19","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.rmed.2018.01.012","volume":"136","author":"M Chatwin","year":"2018","unstructured":"Chatwin M, Toussaint M, Goncalves MR et al (2018) Airway clearance techniques in neuromuscular disorders: a state of the art review. Respir Med 136:98\u2013110. https:\/\/doi.org\/10.1016\/j.rmed.2018.01.012","journal-title":"Respir Med"},{"issue":"5","key":"10990_CR20","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1136\/thorax.58.5.460-a","volume":"58","author":"PJ Wijkstra","year":"2003","unstructured":"Wijkstra PJ, Meijer PM, Meinesz AF (2003) Diaphragm plication following phrenic nerve injury. Thorax 58(5):460. https:\/\/doi.org\/10.1136\/thorax.58.5.460-a","journal-title":"Thorax"},{"key":"10990_CR21","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.rmcr.2014.12.006","volume":"14","author":"A Hazenberg","year":"2015","unstructured":"Hazenberg A, van Alfen N, Voet NB, Kerstjens HA, Wijkstra PJ (2015) Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm? Respir Med Case Rep 14:37\u201339. https:\/\/doi.org\/10.1016\/j.rmcr.2014.12.006","journal-title":"Respir Med Case Rep"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-022-10990-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-022-10990-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-022-10990-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T04:35:32Z","timestamp":1655872532000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-022-10990-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,11]]},"references-count":21,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10990"],"URL":"https:\/\/doi.org\/10.1007\/s00415-022-10990-7","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,11]]},"assertion":[{"value":"15 December 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 January 2022","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 February 2022","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"ST, SV, CH, JD, PW, KM and NV have no relevant financial or non-financial interests to disclose. JG reports grants from Prinses Beatrix Spierfonds and Fulcrum Therapeutics. BvE reports grants from Prinses Beatrix Spierfonds, Dutch FSHD Foundation and charitable foundation Spieren voor Spieren and consultancy for Fulcrum Therapeutics, Facio Therapies and Arrowhead Pharmaceuticals.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"This study was performed in accordance with the Medical Research Involving Human Subjects Act (WMO) and with the 1964 Helsinki Declaration and its later amendments. The protocol was approved by the Regional Medical Ethics Committee (CMO region Arnhem-Nijmegen). All patients signed informed consent.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical standard statement"}}]}}