{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:46:18Z","timestamp":1791251178078,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,6,18]],"date-time":"2015-06-18T00:00:00Z","timestamp":1434585600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Late\u2010onset Pompe disease (LOPD) is a rare autosomal recessive disorder which usually presents as a limb\u2010girdle myopathy with early respiratory involvement. <jats:italic>Methods<\/jats:italic>: We report 2 sisters with an uncommon presentation of LOPD characterized by fibromyalgia\u2010like pain associated with irritable bowel syndrome. <jats:italic>Results<\/jats:italic>: In both sisters, clinical examination was normal and had remained stable for 10 years. The serum creatine kinase level was mildly elevated. Several muscle biopsies showed slight nonspecific myopathic abnormalities. A dried blood spot test indicated acid maltase deficiency. The diagnosis of LOPD was confirmed genetically. Both sisters subsequently developed proximal muscle weakness after pregnancy and started enzyme replacement therapy. Under treatment, gastrointestinal symptoms improved, but pain persisted. <jats:italic>Conclusions<\/jats:italic>: Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>52<\/jats:bold>: 300\u2013304, 2015<\/jats:p>","DOI":"10.1002\/mus.24618","type":"journal-article","created":{"date-parts":[[2015,2,20]],"date-time":"2015-02-20T21:36:03Z","timestamp":1424468163000},"page":"300-304","source":"Crossref","is-referenced-by-count":20,"title":["Fibromyalgia\u2010like symptoms associated with irritable bowel syndrome: A challenging diagnosis of late\u2010onset Pompe disease"],"prefix":"10.1002","volume":"52","author":[{"given":"Aude","family":"Gesqui\u00e8re\u2010Dando","sequence":"first","affiliation":[{"name":"Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital Aix\u2010Marseille University Boulevard Jean Moulin Marseille, Cedex 05 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Attarian","sequence":"additional","affiliation":[{"name":"Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital Aix\u2010Marseille University Boulevard Jean Moulin Marseille, Cedex 05 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Maues De Paula","sequence":"additional","affiliation":[{"name":"Department of Pathology and Neuropathology, Timone University Hospital Aix\u2010Marseille University Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Pouget","sequence":"additional","affiliation":[{"name":"Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital Aix\u2010Marseille University Boulevard Jean Moulin Marseille, Cedex 05 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Salort\u2010Campana","sequence":"additional","affiliation":[{"name":"Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital Aix\u2010Marseille University Boulevard Jean Moulin Marseille, Cedex 05 France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh384"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.06.002"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21393"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23643"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1122"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9201-8"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31322"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-88"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.04.009"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.11.006"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2008.12.009"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22329"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2007.00839.x"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0922-9"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-7137-2"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/CND.0b013e318176dbe4"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/2013.jamaneurol.486"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-35"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.02.003"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.05.021"},{"key":"e_1_2_5_22_1","first-page":"130","article-title":"Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy","volume":"101","author":"Bernstein DL1","year":"2010","journal-title":"A report of three later\u2010onset patients. 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