{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T04:11:28Z","timestamp":1777003888433,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,12,29]],"date-time":"2023-12-29T00:00:00Z","timestamp":1703808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100002108","name":"FARA","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Anecdotally, patients with facioscapulohumeral muscular dystrophy (FSHD) describe gastrointestinal (GI) and genitourinary (GU) symptoms. We explored the prevalence of GI and GU symptoms and their impact on quality of life (QOL) in people with FSHD compared to healthy household controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this descriptive, cross\u2010sectional study, we emailed a survey exploring GI and GU symptoms to all FSHD Society patient contacts (<jats:italic>n<\/jats:italic>\u2009=\u20093507). We invited those with FSHD and unaffected household controls to respond. Non\u2010parametric statistics were used to compare symptom frequency and impact of symptoms between respondents with FSHD and household controls. Within the FSHD group, symptom frequency was assessed relative to measures of disease progression (need for ambulatory or respiratory support).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Surveys from 701 respondents (652 with FSHD) \u226518\u2009years old were included in analysis. Those with FSHD had symptoms affecting both GI and GU systems more frequently than controls using ordinal rating of symptom frequency. Within the FSHD group, more advanced disease was associated with increased symptom frequency. QOL was negatively impacted by the GI and GU symptoms. There was no difference between groups in use of medications to treat these symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Recognition and treatment of GI and GU symptoms in people with FSHD, particularly those with more advanced disease, could improve QOL. Additional investigation is required to confirm these findings and understand the physiology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.28028","type":"journal-article","created":{"date-parts":[[2023,12,30]],"date-time":"2023-12-30T04:33:54Z","timestamp":1703910834000},"page":"325-333","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact"],"prefix":"10.1002","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5504-9907","authenticated-orcid":false,"given":"Michael R.","family":"Cole","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Iowa Hospitals and Clinics  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher S.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Department of Urology University of Iowa Hospitals and Clinics  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eyad M.","family":"Hanna","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Hospitals and Clinics  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. Bridget","family":"Zimmerman","sequence":"additional","affiliation":[{"name":"Department of Biostatistics University of Iowa College of Public Health  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"June","family":"Kinoshita","sequence":"additional","affiliation":[{"name":"FSHD Society  Randolph Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine D.","family":"Mathews","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Hospitals and Clinics  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-016-0667-0"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001783"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/110.3.631"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2010.03.006"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251269.31442.d9"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a84140"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24218"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000133126.86377.E8"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001213"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/life11080772"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.88.4.347"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.01.008"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81899-2"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004420"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27493"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00455-007-9141-0"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.11.001"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7836-y"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2018-0333G"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00455-021-10392-3"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000892"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v12.i12.1821"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2015.12.046"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2013.01.059"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.07.009"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007013"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000219760.76441.f8"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.28028","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,8]],"date-time":"2024-02-08T10:46:45Z","timestamp":1707389205000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.28028"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,29]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/mus.28028"],"URL":"https:\/\/doi.org\/10.1002\/mus.28028","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,29]]},"assertion":[{"value":"2023-02-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}