{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:44:31Z","timestamp":1753883071948,"version":"3.41.2"},"reference-count":74,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,3,29]],"date-time":"2025-03-29T00:00:00Z","timestamp":1743206400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"abstract":"<jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>\n              It has been known for long that females carrying pathogenic variants in the\n              <jats:italic>DMD<\/jats:italic>\n              gene often report symptoms and\/or exhibit signs of the disease. However, a notable knowledge gap exists concerning the signs and symptoms of female carriers of other X-linked neuromuscular diseases (XLNMDs).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Objective:<\/jats:title>\n            <jats:p>\n              This scoping review aims to provide a comprehensive outline of existing literature regarding the signs and symptoms of carriers of non-\n              <jats:italic>DMD<\/jats:italic>\n              XLNMDs to raise awareness among both researchers and clinicians.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>\n              Three electronic databases were used for the literature search (PubMed, Embase, Web of Science). Studies on the signs and symptoms of carriers of non-\n              <jats:italic>DMD<\/jats:italic>\n              XLNMDs were included.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>\n              We included 44 articles for this review with a total of 354 carriers of non-\n              <jats:italic>DMD<\/jats:italic>\n              XLNMDs (mean age 43.9 years, std. deviation 17.4). Muscular signs and symptoms were reported for 125 carriers (X-linked myotubular myopathy (XLMTM): n\u2009=\u200996 (65%); Kennedy's disease (KD): n\u2009=\u200925 (32%); X-linked recessive Charcot-Marie-Tooth disease (CMTXR): n\u2009=\u20092 (15%); Uruguay faciocardiomusculoskeletal syndrome (FCMSU): n\u2009=\u20091 (33%); Barth syndrome (BS): n\u2009=\u20091 (100%)). In terms of ancillary investigations, abnormalities in histopathology and imaging were the most frequent with 44 carriers having abnormalities found by these testing (XLMTM: n\u2009=\u200936 (24%); Emery-Dreifuss muscular dystrophy 1 (EDMD1): n\u2009=\u20094 (5%); KD: n\u2009=\u20094 (5%) \/ XLMTM: n\u2009=\u200918 (12%); EDMD1: n\u2009=\u20091 (1%); KD: n\u2009=\u20095 (6%); X-linked myopathy with postural muscle atrophy (XMPMA): n\u2009=\u200919 (83%); BS: n\u2009=\u20091 (100%)). A difference between the number of EDMD1 carriers with cardiovascular signs and symptoms (n\u2009=\u20092 (1%)) and the number of carriers with abnormal electrocardiography tests (n\u2009=\u200920 (23%)) was also noted.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion:<\/jats:title>\n            <jats:p>\n              Carriers of non-\n              <jats:italic>DMD<\/jats:italic>\n              XLNMDs exhibit a variety of signs and symptoms that could impact quality of life, making it vital for clinicians to be aware of these patients.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1177\/22143602251330441","type":"journal-article","created":{"date-parts":[[2025,3,29]],"date-time":"2025-03-29T21:26:45Z","timestamp":1743283605000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Signs and symptoms of carriers of non-\n            <i>DMD<\/i>\n            X-linked neuromuscular diseases: A scoping review"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5670-729X","authenticated-orcid":false,"given":"Job","family":"Simons","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"},{"name":"Department of Rehabilitation, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-6793-2906","authenticated-orcid":false,"given":"Amanda","family":"Dekker","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"},{"name":"Department of Rehabilitation, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4550-3977","authenticated-orcid":false,"given":"Rosanne","family":"Govaarts","sequence":"additional","affiliation":[{"name":"Department of Radiology, C.J. 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