{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T02:03:15Z","timestamp":1776996195891,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T00:00:00Z","timestamp":1758758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006823","name":"Boston Children's Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006823","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":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction\/Aims<\/jats:title>\n                    <jats:p>\n                      Adenylosuccinate synthase\u2010like 1 (ADSS1) myopathy is an ultra\u2010rare disorder caused by biallelic pathogenic variants in the\n                      <jats:italic>ADSS1<\/jats:italic>\n                      gene. This results in progressive muscle weakness, fatigue, dysphagia, and, in severe cases, cardiomyopathy and respiratory failure. The aim of the study was to evaluate how ADSS1 myopathy impacts patients' lives and to comprehensively assess their quality of life.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted individual interviews in 31 participants with ADSS1 myopathy from six countries. Participants engaged in structured interviews, which included both open\u2010ended questions and the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. Thematic analysis was employed to identify the primary concerns, symptoms, and quality\u2010of\u2010life challenges faced by patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>From individual interviews, the decline in mobility and motor skills (54.8%) and muscle weakness (48.3%) primarily impacting the lower extremities emerged as the most frequently reported bothersome symptoms. The most reported concerns were decline in mobility, motor skills, and gait disturbance (58.0%). Only 5% of the patients reported no impact of ADSS1 myopathy on their work or social life. The INQoL questionnaire identified 20 patients (64.5%) with pain, with the most common location being the lower extremities, while fatigue was reported by all patients except one. The most identified treatment priorities were improving motor function (51.6%) and halting disease progression (48.3%).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This study highlights the significant physical and psychosocial burden of ADSS1 myopathy, with progressive muscle weakness and multisystem involvement affecting daily life. The findings underscore the need for early diagnosis and multidisciplinary care approaches.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.70033","type":"journal-article","created":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T08:44:56Z","timestamp":1758789896000},"page":"1265-1272","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Multinational Study of Patient and Caregiver\u2010Reported Insights Into\n                    <scp>ADSS1<\/scp>\n                    Myopathy"],"prefix":"10.1002","volume":"72","author":[{"given":"Merve Ko\u00e7","family":"Yeked\u00fcz","sequence":"first","affiliation":[{"name":"Department of Anesthesiology Critical Care, and Pain Medicine, Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"},{"name":"Faculty of Medicine, Department of Pediatric Metabolism, Ankara University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunjung","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Neurology Yonsei University College of Medicine, Gangnam Severance Hospital  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo\u2010Hyun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology Yonsei University College of Medicine, Gangnam Severance Hospital  Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raquel","family":"van Gool","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology Critical Care, and Pain Medicine, Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanne","family":"van der Heijden","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology Critical Care, and Pain Medicine, Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lise","family":"Vrolix","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology Critical Care, and Pain Medicine, Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Buket Sonbas","family":"Cobb","sequence":"additional","affiliation":[{"name":"Department of Neurology Beth Israel Deaconess Medical Center, Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Electrical and Electronic Engineering Harran University  Sanliurfa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6375-3312","authenticated-orcid":false,"given":"Seward","family":"Rutkowe","sequence":"additional","affiliation":[{"name":"Department of Neurology Beth Israel Deaconess Medical Center, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Shulman","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy and Occupational Therapy Mayo Family Pediatric Pain Rehabilitation Center, Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Beggs","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atchayaram","family":"Nalini","sequence":"additional","affiliation":[{"name":"Department of Neurology National Institute of Mental Health and Neurosciences (NIMHANS)  Bengaluru 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