{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T22:33:26Z","timestamp":1773441206865,"version":"3.50.1"},"reference-count":13,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2025,2,19]]},"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:p>Pompe disease is a genetic condition that results in glycogen accumulation in tissues, presenting from early infancy to late adulthood with various neurological and non-neurological features. We describe a woman in her late 70s with a slowly progressive onset (over years) of ptosis, oropharyngeal dysphagia and dysarthria, who was found to have late-onset Pompe disease. This case illustrates an atypical phenotype of late-onset Pompe disease that closely mimicked oculopharyngeal muscular dystrophy. Pompe disease is relatively easily identified using dried blood spot testing as a screening test. Enzyme replacement therapy for Pompe disease has increased the importance of its timely diagnosis, and recognising the variability in its presentation.<\/jats:p>","DOI":"10.1136\/pn-2024-004506","type":"journal-article","created":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T13:20:40Z","timestamp":1741008040000},"page":"466-469","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Late-onset Pompe disease mimicking oculopharyngeal muscular dystrophy"],"prefix":"10.1136","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9294-0547","authenticated-orcid":false,"given":"Moiz","family":"Mikail","sequence":"first","affiliation":[{"name":"Neurology, McMaster University Division of Neurology, Hamilton, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Gladman","sequence":"additional","affiliation":[{"name":"Neurology, McMaster University Division of Neurology, Hamilton, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,3,3]]},"reference":[{"key":"2025091212001198000_25.5.466.1","doi-asserted-by":"publisher","DOI":"10.1042\/bj0860011"},{"key":"2025091212001198000_25.5.466.2","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"2025091212001198000_25.5.466.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.12.004"},{"key":"2025091212001198000_25.5.466.4","first-page":"e1475","article-title":"Longitudinal Assessment of Strength, Functional Capacity, Oropharyngeal Function, and Quality of Life in Oculopharyngeal Muscular Dystrophy","volume":"97","author":"Kroon","year":"2021","journal-title":"Neurology (ECronicon)"},{"key":"2025091212001198000_25.5.466.5","doi-asserted-by":"publisher","DOI":"10.1136\/pn-2024-004148"},{"key":"2025091212001198000_25.5.466.6","doi-asserted-by":"publisher","DOI":"10.1212\/con.0000000000001184"},{"key":"2025091212001198000_25.5.466.7","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2017-001708"},{"key":"2025091212001198000_25.5.466.8","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1002\/mus.24620","article-title":"Electromyographic findings in 37 patients with adult-onset acid maltase deficiency","volume":"51","author":"Kassardjian","year":"2015","journal-title":"Muscle Nerve"},{"key":"2025091212001198000_25.5.466.9","doi-asserted-by":"crossref","first-page":"1732","DOI":"10.1212\/CON.0000000000000805","article-title":"Mitochondrial and Metabolic Myopathies","volume":"25","author":"Cohen","year":"2019","journal-title":"Continuum (Minneap Minn)"},{"key":"2025091212001198000_25.5.466.10","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.mito.2017.12.006","article-title":"Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort","volume":"44","author":"Heighton","year":"2019","journal-title":"Mitochondrion"},{"key":"2025091212001198000_25.5.466.11","doi-asserted-by":"publisher","DOI":"10.1136\/pn-2022-003589"},{"key":"2025091212001198000_25.5.466.12","doi-asserted-by":"crossref","DOI":"10.3390\/jcm10214828","article-title":"A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease","volume":"10","author":"Dornelles","year":"2021","journal-title":"J Clin Med"},{"key":"2025091212001198000_25.5.466.13","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1212\/WNL.0000000000002758","article-title":"Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness","volume":"87","author":"Lukacs","year":"2016","journal-title":"Neurology (ECronicon)"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2024-004506","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T19:00:17Z","timestamp":1757703617000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2024-004506"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,3]]},"references-count":13,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,9,12]]},"published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1136\/pn-2024-004506"],"URL":"https:\/\/doi.org\/10.1136\/pn-2024-004506","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,3]]}}}