{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:10:06Z","timestamp":1756321806179,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,5,18]]},"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:p>Facio-scapulo-humeral dystrophy (FSHD) is a common muscular dystrophy featuring progressive weakness, mostly involving facial muscles and the scapular cingulum. FSHD is an autosomal-dominant inherited disease driven by the contraction of the D4Z4 region of chromosome 4. Patients with FSHD have a high life expectancy, about 20% of FSHD subjects need wheelchairs in their 50s, and extramuscular involvement is rare, however, no epidemiological studies have been carried out on this data.<\/jats:p>\n               <jats:p>Our case describes a man affected by FSHD who, in his 60s, developed atypical Parkinsonism diagnosed as progressive supranuclear palsy (PSP).<\/jats:p>\n               <jats:p>FSHD symptoms can hide other neuromuscular diseases developed on ageing. This case highlights the importance of considering possible overlaps with other neurodegenerative diseases.<\/jats:p>","DOI":"10.1136\/bcr-2022-253820","type":"journal-article","created":{"date-parts":[[2023,5,29]],"date-time":"2023-05-29T10:05:36Z","timestamp":1685354736000},"page":"e253820","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Atypical progression of motor symptoms in facio-scapulo-humeral dystrophy: clinical worsening or overlap?"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0584-7812","authenticated-orcid":false,"given":"Dario","family":"Calisi","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Imaging and Clinical Sciences, Gabriele d'Annunzio University of Chieti and Pescara, Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo A","family":"De Rosa","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Imaging and Clinical Sciences, Gabriele d'Annunzio University of Chieti and Pescara, Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9937-5923","authenticated-orcid":false,"given":"Mirella","family":"Russo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Imaging and Clinical Sciences, Gabriele d'Annunzio University of Chieti and Pescara, Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano L","family":"Sensi","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Imaging and Clinical Sciences, Gabriele d'Annunzio University of Chieti and Pescara, Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,5,29]]},"reference":[{"key":"2025082711353665000_16.5.e253820.1","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.nmd.2016.03.007","article-title":"Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney","volume":"26","author":"Tawil","year":"2016","journal-title":"Neuromuscular Disorders"},{"key":"2025082711353665000_16.5.e253820.2","doi-asserted-by":"crossref","first-page":"1916","DOI":"10.1212\/CON.0000000000000399","article-title":"Facioscapulohumeral muscular dystrophy","volume":"22","author":"Statland","year":"2016","journal-title":"CONTINUUM: Lifelong Learning in Neurology"},{"key":"2025082711353665000_16.5.e253820.3","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23949"},{"key":"2025082711353665000_16.5.e253820.4","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1002\/mds.23516","article-title":"Cervical dystonia associated with facioscapulohumeral dystrophy: expanding the clinical spectrum?","volume":"26","author":"Pare\u00e9s","year":"2011","journal-title":"Mov. Disord."},{"key":"2025082711353665000_16.5.e253820.5","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/mdc3.12247","article-title":"Concomitant Facioscapulohumeral muscular dystrophy and parkinsonism mimicking multiple system atrophy","volume":"3","author":"Paucar","year":"2016","journal-title":"Mov Disord Clin Pract"},{"key":"2025082711353665000_16.5.e253820.6","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26987"},{"key":"2025082711353665000_16.5.e253820.7","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/bs.irn.2019.10.013","article-title":"Progressive supranuclear palsy","volume":"149","author":"Giagkou","year":"2019","journal-title":"Int Rev Neurobiol"},{"key":"2025082711353665000_16.5.e253820.8","doi-asserted-by":"crossref","first-page":"93","DOI":"10.3233\/JPD-202302","article-title":"Genetics of progressive supranuclear palsy: A review","volume":"11","author":"Wen","year":"2021","journal-title":"J Parkinsons Dis"},{"key":"2025082711353665000_16.5.e253820.9","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2021.694872","article-title":"Best practices in the clinical management of progressive supranuclear palsy and Corticobasal syndrome: A consensus statement of the Curepsp centers of care","volume":"12","author":"Bluett","year":"2021","journal-title":"Front Neurol"},{"key":"2025082711353665000_16.5.e253820.10","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2011.246561"},{"key":"2025082711353665000_16.5.e253820.11","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22340"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-253820","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:35:42Z","timestamp":1756319742000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-253820"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":11,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,5,29]]},"published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1136\/bcr-2022-253820"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-253820","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2023,5]]}}}