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The mean age at last neuromuscular assessment was 33.2\u00a0years (range 1.4\u201386.3). Large deletions in the <jats:italic>DMD<\/jats:italic> gene were the most common variants (78% of cases), followed by large duplications and small variants, each accounting for 11% of cases. BMD diagnosis was prompted by skeletal muscle symptoms in 52.2% of cases, a positive family history in 27.6%, neuropsychiatric issues or diagnoses in 9.7%, incidental findings in 6.7%, and cardiomyopathy in 3.8%. Twenty-three percent of patients were non-ambulant at last evaluation, with a mean age at loss of ambulation (LoA) of 42.2\u00a0years (range 11.2\u201377.6\u00a0years). Disease duration correlated with the severity of motor impairment (expressed as fully ambulant, ambulant with limitation, ambulant with aids, non-ambulant) at last assessment. Cardiac involvement was observed in 52.3% of patients. Severe respiratory impairment was rare and more prevalent in non-ambulant patients. Neuropsychiatric issues were common (44.2%), but only 18.4% of patients had a formal diagnosis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Retrospective analyses of clinical case records contribute to improved understanding of the variability of phenotypes of BMD. Combined with data from other large cohorts, these findings can contribute to the development of standard of care guidelines for BMD and inform the design of clinical trials of novel therapies.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s00415-025-13126-9","type":"journal-article","created":{"date-parts":[[2025,6,7]],"date-time":"2025-06-07T12:17:30Z","timestamp":1749298650000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines"],"prefix":"10.1007","volume":"272","author":[{"given":"Pietro","family":"Riguzzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly","family":"Borland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meredith K.","family":"James","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Bourke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara Marini","family":"Bettolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert Muni","family":"Lofra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Diaz-Manera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Tasca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianela","family":"Schiava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"ElSeed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Harris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Grover","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe","family":"Geagan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla Bolano","family":"Diaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariele Barreto","family":"Haagsma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doaa","family":"Salman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Reeves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goknur S.","family":"Kocak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Waldock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"McCallum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jassi","family":"Michell-Sodhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dionne","family":"Moat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Topf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Bello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8455-0637","authenticated-orcid":false,"given":"Michela","family":"Guglieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,7]]},"reference":[{"issue":"3","key":"13126_CR1","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.ncl.2014.05.002","volume":"32","author":"KM Flanigan","year":"2014","unstructured":"Flanigan KM (2014) Duchenne and Becker muscular dystrophies. 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Meredith K. James provides consultancy services for the following companies: ATOM International. MKJ has participated on Advisory Boards for F. Hoffman La Roche AG, Sarepta Therapeutics and consultancies with Sarepta Therapeutics, Amicus, Edgewise, Genethon and Sanofi with fees paid to Newcastle University, and received fee support for PhD studies from the Jain Foundation. John Bourke serves on the Data Monitoring Committee for Sarepta Therapeutics DMD gene therapy trials, occasionally serves on the BMD trial design committee for Sarepta Therapeutics, and is an occasional external expert for AstraZeneca; JB also occasionally serves on the Pfizer stem cell therapy DMD trials advisory board, the EspeRare advisory panel, and the TREAT-NMD submission evaluation panel. Chiara Marini Bettolo has received a grant by Duchenne UK through Newcastle University. Robert Muni-Lofra has been participating in advisory boards for Biogen, Roche and Novartis and has delivered consultancy work for Pfizer, Italfarmaco, Sarepta, Summit and NS Pharma. Marianela Schiava has received a grant by UK Duchenne through Newcastle University. Luca Bello acknowledges research support from PTC Therapeutics; payments or honoraria for lectures, presentations, speakers\u2019 bureaus, manuscript writing or educational events from PTC Therapeutics and Pfizer; payments for expert testimony from PTC Therapeutics; payments for participation on a Data Safety Monitoring Board or Advisory Board from PTC Therapeutics, Edgewise Therapeutics, and Roche. Elena Pegoraro acknowledges payments or honoraria for lectures, presentations, speakers\u2019 bureaus, manuscript writing or educational events from Biogen, Alexion and Roche; support for attending meetings and\/or travels from Roche, Biogen, Argenx and Alexion; payments for participation on a Data Safety Monitoring Board or Advisory Board from Alexion, UCB Biopharma, Santhera and Sanofi. Michela Guglieri is a member of the advisory boards for Pfizer, NS Pharma, Dyne, and Roche (through Newcastle University); a member of the DSMB for Antisense Therapeutic (through Newcastle University); has received speaker honoraria (personal) from Sarepta, Italfarmaco, and Biogen; has had research collaborations (through Newcastle University) with PTC Therapeutics, ReveraGen, Roche, and Edgewise; and has been Principal Investigator for clinical trials sponsored by Pfizer, Edgewise, Dyne, Roche, Italfarmaco, and ReveraGen. The rest of the authors report no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"The study was approved as a service review under the Newcastle upon Tyne Trust Hospital because the project was to evaluate the current natural history data to inform decision-making process on care management for patients with BMD.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"448"}}