{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:33:47Z","timestamp":1772120027620,"version":"3.50.1"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2024,8,31]],"date-time":"2024-08-31T00:00:00Z","timestamp":1725062400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,8,31]],"date-time":"2024-08-31T00:00:00Z","timestamp":1725062400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100006752","name":"Universidade do Porto","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006752","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    This study describes the experiences with the stigma attached to Machado-Joseph disease (MJD) in S\u00e3o Miguel Island, the Azores (Portugal). We draw on semi-structured interviews with persons with MJD, family members, healthcare professionals, and direct care providers recruited through the local patient\u2019s association (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200928). Qualitative thematic analysis revealed three main themes: (i) the intense stigma associated with MJD in the past; (ii) the current tendency towards increased openness; and (iii) increased availability of information about MJD and support. The findings suggest that stigmatization was more frequent and intense in the past. Still, there is currently a decrease in the intensity of perceived stigma, accompanied by an increasing awareness about MJD within the community. The local patient\u2019s association is noted for playing a pivotal role in raising awareness about MJD in the community and fostering the confidence of individuals with MJD and their families to engage socially, which may help to reduce or mitigate feelings of stigma. This raises questions about whether the diminished stigma towards MJD in S\u00e3o Miguel results from heightened awareness about the condition, a decrease in the social acceptability of stigma, or a gradual internalization and normalization of stigma among individuals with MJD as a coping mechanism.\n                  <\/jats:p>","DOI":"10.1007\/s12687-024-00731-w","type":"journal-article","created":{"date-parts":[[2024,8,31]],"date-time":"2024-08-31T06:02:22Z","timestamp":1725084142000},"page":"853-859","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["From stigma to increased social acceptance? Living with Machado-Joseph disease in S\u00e3o Miguel, Azores, Portugal"],"prefix":"10.1007","volume":"16","author":[{"given":"Daniela","family":"Couto","sequence":"first","affiliation":[]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[]},{"given":"Manuela","family":"Lima","sequence":"additional","affiliation":[]},{"given":"Liliana","family":"Sousa","sequence":"additional","affiliation":[]},{"given":"\u00c1lvaro","family":"Mendes","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2024,8,31]]},"reference":[{"key":"731_CR1","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1186\/1750-1172-6-35","volume":"6","author":"C Bettencourt","year":"2011","unstructured":"Bettencourt C, Lima M (2011) Machado-Joseph Disease: from first descriptions to new perspectives. 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The study received ethics approval from i3S\u2019s Committee for Ethical and Responsible Conduct of Research (CECRI-22\/2021). Informed consent was obtained from all participants included in the study. No non-human animal studies were carried out by the authors for this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}