Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study

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dc.contributor.authorAkinci, Gulcin
dc.contributor.authorTopaloglu, Haluk
dc.contributor.authorDemir, Tevfik
dc.contributor.authorDanyeli, Ayca Ersen
dc.contributor.authorTalim, Beril
dc.contributor.authorKeskin, Fatma Ela
dc.contributor.authorKadioglu, Pinar
dc.contributor.authorTalip, Enez
dc.contributor.authorAltay, Canan
dc.contributor.authorYaylali, Guzin Fidan
dc.contributor.authorBilen, Habib
dc.contributor.authorNur, Banu
dc.contributor.authorDemir, Leyla
dc.contributor.authorOnay, Huseyin
dc.contributor.authorAkinci, Baris
dc.date.accessioned2019-10-27T11:05:09Z
dc.date.available2019-10-27T11:05:09Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractLipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Peripheral sensorimotor neuropathy was a con-non finding (67.4%) in lipodystrophic patients with diabetes. Neuropathic foot ulcers were observed in 4 patients. Drop foot developed in 1 patient with congenital generalized lipodystrophy type 1. Muscle symptoms and hypertrophy were consistent findings in congenital generalized lipodystrophy (21/21) and familial partial lipodystrophy (25/34); on the other hand, overt myopathy with elevated creatine kinase activity was a distinctive characteristic of congenital generalized lipodystrophy type 4. Muscle biopsies revealed myopathic changes at different levels. Accumulation of triglycerides was observed which contributes to insulin resistance. All patients with congenital generalized lipodystrophy suffered from tight Achilles tendons at various levels. Scoliosis was observed in congenital generalized lipodystrophy type 4 (2/2) and familial partial lipodystrophy type 2 (2/17). Atlantoaxial instability was unique to congenital generalized lipodystrophy type 4 (2/2). Bone cysts were detected in congenital generalized lipodystrophy type 1 (7/10) and congenital generalized lipodystrophy type 2 (2/8). Our study suggests that lipodystrophies are associated with a wide spectrum of neuromuscular abnormalities. (C) 2017 Elsevier B.V. All rights reserved.en_US
dc.identifier.doi10.1016/j.nmd.2017.05.015en_US
dc.identifier.endpage930en_US
dc.identifier.issn0960-8966
dc.identifier.issn1873-2364
dc.identifier.issue10en_US
dc.identifier.pmid28754454en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage923en_US
dc.identifier.urihttps://doi.org/10.1016/j.nmd.2017.05.015
dc.identifier.urihttps://hdl.handle.net/11454/31614
dc.identifier.volume27en_US
dc.identifier.wosWOS:000414506500009en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherPergamon-Elsevier Science Ltden_US
dc.relation.ispartofNeuromuscular Disordersen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectInsulin resistanceen_US
dc.subjectLipodystrophyen_US
dc.subjectMyopathyen_US
dc.subjectNeuropathyen_US
dc.titleClinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter studyen_US
dc.typeArticleen_US

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