{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T04:43:30Z","timestamp":1792298610935,"version":"4.4.0"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,10,5]],"date-time":"2024-10-05T00:00:00Z","timestamp":1728086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction\/Aims<\/jats:title>\n                    <jats:p>Changes in body composition in patients with spinal muscular atrophy (SMA) can cause endocrine abnormalities that are insufficiently studied in adults. We aimed to assess the endocrine profile in a cohort of adults with SMA. Second, we compared body composition and endocrine profiles between nonambulatory and ambulatory patients and between different types of SMA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The cross\u2010sectional study included 29 SMA patients (18 [62.1%] males and 11 [37.9%] females) of median age 44 (IQR 30\u201351.5) years with type 2, 3, or 4. Body composition was measured by bioimpedance. Morning blood samples were drawn for glycated hemoglobin (HbA1c), lipid profile, testosterone, cortisol, and insulin\u2010like growth factor\u20101 (IGF\u20101). Blood glucose, insulin, and beta\u2010hydroxybutyrate (BHB) were measured during a 75\u2009g oral glucose tolerance test. The homeostatic model assessment for insulin resistance index was calculated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In total, 75.9% of patients had increased fat mass (FM), with 51.7% having an increase despite normal body mass index. Ambulation was the most important discriminating factor of body composition. 93.1% of patients had metabolic abnormalities, including hyperglycemia, insulin resistance, and dyslipidemia. Increased BHB, a marker of ketosis, was present in more than a third of patients. Functional hypogonadism was present in half of male patients. Testosterone and IGF\u20101 negatively correlated with FM.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Adult patients with SMA had abnormal body composition and highly prevalent metabolic disturbances that might increase cardiometabolic risk. Because treatments have modified the course of SMA, it is important to investigate whether these observations translate into clinically relevant outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.28275","type":"journal-article","created":{"date-parts":[[2024,10,5]],"date-time":"2024-10-05T03:39:21Z","timestamp":1728099561000},"page":"1230-1239","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The endocrine manifestations of adults with spinal muscular atrophy"],"prefix":"10.1002","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8044-3527","authenticated-orcid":false,"given":"Matej","family":"Rakusa","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolic Disease University Medical Centre Ljubljana  Ljubljana Slovenia"},{"name":"Department of Internal Medicine, Faculty of Medicine University of Ljubljana  Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5083-8261","authenticated-orcid":false,"given":"Bla\u017e","family":"Koritnik","sequence":"additional","affiliation":[{"name":"Institute of Clinical Neurophysiology University Medical Centre Ljubljana  Ljubljana Slovenia"},{"name":"Department of Neurology, Faculty of Medicine University of Ljubljana  Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea","family":"Leonardis","sequence":"additional","affiliation":[{"name":"Institute of Clinical Neurophysiology University Medical Centre Ljubljana  Ljubljana Slovenia"},{"name":"Department of Neurology, Faculty of Medicine University of Ljubljana  Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Goricar","sequence":"additional","affiliation":[{"name":"Pharmacogenetics Laboratory, Institute of Biochemistry, Faculty of Medicine University of Ljubljana  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Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23582"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50855"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.02.002"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2015.09.023"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND\u2010160171"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.02.011"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.09.025"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/dmrr.3389"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0172346"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25430"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinsp.2022.100078"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.2337\/dc23\u2010S002"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018\u201000229"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26823"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clnu.2016.10.020"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clnu.2021.02.026"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild\u20102019\u2010318120"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2011.00112"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.2337\/diab.30.12.1000"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1152\/jappl.1997.83.3.897"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2016.12.022"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.16074"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0911101"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27715"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.02.006"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2018\u20100333F"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgab430"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40618\u2010019\u201001156\u2010w"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010011\u20106277\u20105"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbas.2021.100024"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.3390\/nu13082493"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.1034894"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.03.009"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073810365185"}],"container-title":["Muscle 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