{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:57:56Z","timestamp":1792065476540,"version":"4.4.0"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T00:00:00Z","timestamp":1792022400000},"content-version":"vor","delay-in-days":287,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Rheumatology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>Late\u2010onset Pompe disease (LOPD) is a rare glycogen storage disorder caused by deficiency of the enzyme lysosomal acid alpha\u2010glucosidase (GAA). It can mimic inflammatory myopathies, leading to diagnostic delays. We present a case of LOPD in a 52\u2010year\u2010old man who came to us with a diagnosis of dermatomyositis for which he had been undergoing treatment for over a decade. Although he was on seemingly adequate immunosuppression, the patient continued to have progressive proximal muscular weakness during the first 4\u2009years of our care. It was not until his sister was diagnosed with LOPD that we pursued biochemical and genetic testing that established the diagnosis by demonstrating reduced lysosomal acid alpha\u2010glucosidase activity and pathogenic variants in the GAA gene. The diagnosis of LOPD can be a clinical challenge given its rarity, as well as its similarities to other more common neuromuscular mimics. However, treatment is very different than myositis and is accomplished through enzyme replacement therapy, with the goal of preventing progression of the disease.<\/jats:p>","DOI":"10.1155\/crrh\/8684758","type":"journal-article","created":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:41:04Z","timestamp":1792064464000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Of Pompe and Circumstance: A Case Review of Late Onset Pompe Disease in a 52\u2010Year\u2010Old Male"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-0536-9876","authenticated-orcid":false,"given":"Jace","family":"Lehnhof","sequence":"first","affiliation":[{"name":"Scripps Mercy Internal Medicine Residency Program  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Lin","sequence":"additional","affiliation":[{"name":"Southern California Permanente Medical Group  Fontana California USA  kaiserpermanente.org"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0309-1112","authenticated-orcid":false,"given":"Miten","family":"Vasa","sequence":"additional","affiliation":[{"name":"Southern California Permanente Medical Group  Fontana California USA  kaiserpermanente.org"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,15]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605789"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31318"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000204462.42910.b8"},{"key":"e_1_2_9_4_2","first-page":"e73","article-title":"Pearls & Oy-sters: Clues to the Diagnosis of Adult-Onset Acid Maltase Deficiency","volume":"82","author":"Beltran P. 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