Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome

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dc.authoridOzyilmaz, Berk/0000-0003-2654-3698
dc.authoridTekin, Hande/0000-0002-4407-164X
dc.authorwosidOzyilmaz, Berk/U-5685-2019
dc.authorwosidTekin, Hande/AAA-8892-2021
dc.contributor.authorTekin, Hande Gazeteci
dc.contributor.authorEdem, Pinar
dc.contributor.authorOzyilmaz, Berk
dc.date.accessioned2024-03-09T18:48:18Z
dc.date.available2024-03-09T18:48:18Z
dc.date.issued2022
dc.departmentİzmir Bakırçay Üniversitesien_US
dc.description.abstractBackground: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atrophy with predominant lower extremity involvement (SMA-LED), Charcot-Marie-Tooth 2O (CMT2O) disease, cortical migration anomalies, and autosomal dominant mental retardation13. SMA-LED phenotype-related mutation was found in the DYNC1H1 gene in the patient who applied with the complaint of gait disturbance.Methods: Pathogenic heterozygous c.1678G > A (p.Val560Met) mutation was detected in the DYNC1H1 gene by next generation targeted gene analysis in the patient who had no phenotypic findings except delayed motor milestones, lumbar lordosis, and lower extremity muscle weakness. The patient's creatinine phosphokinase enzyme level and brain magnetic resonance imaging (MRI) were normal. Electromyography (EMG) had pure motor findings.Conclusion: It should be kept in mind that DYNC1H1 mutation, which we are accustomed to seeing with accompanying findings such as orthopedic and ocular dysmorphic findings, sensorineural EMG findings, and intellectual disability, can also observe with pure motor findings such as muscular dystrophy examination findings. (c) 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.en_US
dc.identifier.doi10.1016/j.braindev.2021.12.001
dc.identifier.endpage298en_US
dc.identifier.issn0387-7604
dc.identifier.issn1872-7131
dc.identifier.issue4en_US
dc.identifier.pmid34974950en_US
dc.identifier.scopus2-s2.0-85122000972en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage294en_US
dc.identifier.urihttps://doi.org/10.1016/j.braindev.2021.12.001
dc.identifier.urihttps://hdl.handle.net/20.500.14034/1287
dc.identifier.volume44en_US
dc.identifier.wosWOS:000777775900005en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofBrain & Developmenten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDync1h1; Gowers Sign; Lordosis; Sma-Leden_US
dc.titleSpinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndromeen_US
dc.typeArticleen_US

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