{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T01:35:45Z","timestamp":1792460145798,"version":"4.5.0"},"reference-count":67,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T00:00:00Z","timestamp":1655942400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2022,7,12]]},"abstract":"<jats:p>Pompe disease is a rare, metabolic, autosomal recessive disorder. Early diagnosis is critical for progressive Pompe disease as delays can significantly alter the clinical course of the disease. Diagnostic modalities, including dried blood spot testing and genetic testing, are available and are effective for diagnosing patients with late-onset Pompe disease (LOPD). However, clinicians face numerous clinical challenges related to the diagnosis of the disease. Two expert group committee meetings, involving 11 experts from the United Arab Emirates, Kuwait, the Kingdom of Saudi Arabia, and Oman, were convened in October 2019 and November 2020 respectively to develop a uniform diagnostic algorithm for the diagnosis of pediatric and adult LOPD in the Arabian Peninsula region. During the first meeting, the specialty-specific clinical presentation of LOPD was defined. During the second meeting, a diagnostic algorithm was developed after a thorough validation of clinical presentation or symptoms, which was performed with the aid of existing literature and expert judgement. A consensus was reached on the diagnostic algorithm for field specialists, such as neurologists, rheumatologists, general practitioners\/internal medicine specialists, orthopedic specialists, and pulmonologists. This specialty-specific diagnostic referral algorithm for pediatric and adult LOPD will guide clinicians in the differential diagnosis of LOPD.<\/jats:p>","DOI":"10.3233\/jnd-220819","type":"journal-article","created":{"date-parts":[[2022,6,24]],"date-time":"2022-06-24T11:43:41Z","timestamp":1656071021000},"page":"661-673","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting"],"prefix":"10.1177","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6144-8819","authenticated-orcid":false,"given":"Ali","family":"Al Shehri","sequence":"first","affiliation":[{"name":"Neuromuscular Integrated Practice Unit, Neuroscience Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Al-Asmi","sequence":"additional","affiliation":[{"name":"Neurology Unit, Medicine Department, College of Medicine and Health Sciences and Sultan Qabos University Hospital, Sultan Qaboos University, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah Mohammed","family":"Al Salti","sequence":"additional","affiliation":[{"name":"Head of Department Neurology, Khoula Hospital, Neuroscience, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abubaker","family":"Almadani","sequence":"additional","affiliation":[{"name":"Head of Neurology Department, Rashid Hospital, Dubai, UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Hassan","sequence":"additional","affiliation":[{"name":"Head of Neurology Department, Tawam Hospital, AlAin, Abu Dhabi, UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed K.","family":"Bamaga","sequence":"additional","affiliation":[{"name":"Pediatric Department, Neuromuscular Medicine Unit, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"Pediatric Department, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward J.","family":"Cupler","sequence":"additional","affiliation":[{"name":"King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasem","family":"Al-Hashel","sequence":"additional","affiliation":[{"name":"Consultant Neurologist, Ibn Sina Hospital, Kuwait"},{"name":"Associate Professor, Faculty of Medicine, Kuwait University, Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majed M.","family":"Alabdali","sequence":"additional","affiliation":[{"name":"Department of Neurology, College of Medicine, Imam Abdulrahman bin Faisal University, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed H.","family":"Alanazy","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzan","family":"Noori","sequence":"additional","affiliation":[{"name":"Head of Department Neurology, University Hospital of Sharjah (UHS), Maliha, UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2022,6,23]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1540\/jsmr.54.100"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.18632\/aging.103794"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.3390\/biom10091339"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1186\/2051-5960-2-2"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2019.07.24"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200367"},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.11.053"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(11)61266-X"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-015-0412-3"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318217477f"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.8.623"},{"key":"ref012","doi-asserted-by":"publisher","DOI":"10.19082\/4886"},{"key":"ref013","unstructured":"Signs and Symptoms Checklist\u2013Late-onset Pompe Disease. 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