{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T17:55:40Z","timestamp":1757613340834,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2020,7,29]]},"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:p>Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults, is an autosomal dominant disorder with a wide phenotypic spectrum ranging from oligosymptomatic forms to a life-threatening, multisystem disease. People with DM1 overall have a reduced life expectancy, mainly due to respiratory or cardiac causes. There is no cure but prompt, appropriate symptom management is essential to limit disease-related complications. We present a case of DM1, unrecognised when the patient presented with recurrent type 2 respiratory failure, and initially misdiagnosed as Guillain-Barr\u00e9 syndrome. This misdiagnosis subsequently led to unnecessary investigation and treatment before further detailed neurological examination and collateral family history gave the diagnosis. This case highlights the importance of considering a chronic neuromuscular disorder in patients presenting with acute respiratory failure and an unusual pattern of weakness.<\/jats:p>","DOI":"10.1136\/practneurol-2020-002573","type":"journal-article","created":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T17:22:22Z","timestamp":1600968142000},"page":"48-52","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Myotonic dystrophy: a cause of acute breathlessness not to be missed"],"prefix":"10.1136","volume":"21","author":[{"given":"Caroline","family":"Kramarz","sequence":"first","affiliation":[{"name":"Neurology, Queen\u2019s Medical Centre, Nottingham University Hospital NHS Trust, Nottingham, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abigail","family":"Turner","sequence":"additional","affiliation":[{"name":"Neurology, Royal Cornwall Hospitals NHS Trust, Truro, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vafa","family":"Alakbarzade","sequence":"additional","affiliation":[{"name":"Neurology, Royal Cornwall Hospitals NHS Trust, Truro, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1419-8540","authenticated-orcid":false,"given":"Brendan","family":"Mclean","sequence":"additional","affiliation":[{"name":"Neurology, Royal Cornwall Hospitals NHS Trust, Truro, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,9,24]]},"reference":[{"key":"2025090412090264000_21.1.48.1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.8.1658"},{"key":"2025090412090264000_21.1.48.2","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.nmd.2018.12.002","article-title":"Respiratory dysfunction in myotonic dystrophy type 1: a systematic review","volume":"29","author":"Hawkins","year":"2019","journal-title":"Neuromuscul Disord"},{"key":"2025090412090264000_21.1.48.3","unstructured":"Bird TD . Myotonic dystrophy type 1. In: Adam MP , Ardinger HH , Pagon RA , et al., eds. GeneReviews((R)) . Seattle: University of Washington, 1993: 1993\u201317."},{"key":"2025090412090264000_21.1.48.4","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1093\/sleep\/34.2.165","article-title":"Daytime sleepiness and REM sleep characteristics in myotonic dystrophy: a case-control study","volume":"34","author":"Yu","year":"2011","journal-title":"Sleep"},{"key":"2025090412090264000_21.1.48.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.smrv.2012.01.001"},{"key":"2025090412090264000_21.1.48.6","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/S0272-5231(21)00967-9","article-title":"Assessment of ventilatory function in patients with neuromuscular disease","volume":"15","author":"Rochester","year":"1994","journal-title":"Clin Chest Med"},{"key":"2025090412090264000_21.1.48.7","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.jns.2019.02.012","article-title":"Prevalence and predictor factors of respiratory impairment in a large cohort of patients with myotonic dystrophy type 1 (DM1): a retrospective, cross sectional study","volume":"399","author":"Rossi","year":"2019","journal-title":"J Neurol Sci"},{"key":"2025090412090264000_21.1.48.8","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21907"},{"key":"2025090412090264000_21.1.48.9","doi-asserted-by":"publisher","DOI":"10.1136\/pn.2008.152611"},{"key":"2025090412090264000_21.1.48.10","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2014-000878"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/practneurol-2020-002573","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T19:09:10Z","timestamp":1757012950000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/practneurol-2020-002573"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,24]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,1,19]]},"published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1136\/practneurol-2020-002573"],"URL":"https:\/\/doi.org\/10.1136\/practneurol-2020-002573","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"type":"print","value":"1474-7758"},{"type":"electronic","value":"1474-7766"}],"subject":[],"published":{"date-parts":[[2020,9,24]]}}}