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Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report

dc.contributor.authorKunc, Lukáš
dc.contributor.authorHavránková, Petra
dc.contributor.authorSkorvanek, Matej
dc.contributor.authorPříhodová, Iva
dc.contributor.authorPoláková, Kamila
dc.contributor.authorNosková, Lenka
dc.contributor.authorTesařová, Markéta
dc.contributor.authorHonzík, Tomáš
dc.contributor.authorZech, Michael
dc.contributor.authorJech, Robert
dc.date.accessioned2024-12-04T11:40:54Z
dc.date.available2024-12-04T11:40:54Z
dc.date.issued2024
dc.identifier.urihttps://hdl.handle.net/20.500.14178/2737
dc.description.abstractThe Smith-Magenis syndrome (SMS) is a rare genetic disorder caused by a microdeletion in the 17p11.2. region or a pathogenic variant of the RAI1 (retinoic acid-induced), which is located in the 17p11.2 area. In most cases, SMS is caused by a heterozygous de novo deletion. Sometimes inherited mutations of the RAI1 are described, suggesting an autosomal dominant inheritance. There is a broad spectrum of symptoms, including distinctive facial features, skeletal malformations, varying intellectual disability, speech, motor skills delay, sleep disturbances, and self-injurious or attention-seeking behaviors. Despite an extensive literature review, the manifestation of dystonia remains absent from documented cases. Dystonia represents a notable clinical symptom, the recognition of which may prompt the initiation of genetic testing and facilitate precise diagnostic assessment.en
dc.language.isoen
dc.relation.urlhttps://doi.org/10.1016/j.prdoa.2024.100267
dc.rightsCreative Commons Uveďte původ 4.0 Internationalcs
dc.rightsCreative Commons Attribution 4.0 Internationalen
dc.titleDystonia: A novel sign of the Smith-Magenis syndrome – A three-case reporten
dcterms.accessRightsopenAccess
dcterms.licensehttps://creativecommons.org/licenses/by/4.0/legalcode
dc.date.updated2024-12-04T11:40:54Z
dc.subject.keywordDystoniaen
dc.subject.keywordSmith-Magenis syndromeen
dc.subject.keywordCase reporten
dc.subject.keywordGenetic disorderen
dc.identifier.eissn2590-1125
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/MSM//LX22NPO5107
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/UK/COOP/COOP
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/FN/I-FN/RVO-VFN64165
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/MZ0/NU/NU23-07-00281
dc.date.embargoStartDate2024-12-04
dc.type.obd73
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.identifier.doi10.1016/j.prdoa.2024.100267
dc.identifier.utWos001295095000001
dc.identifier.eidScopus2-s2.0-85200822564
dc.identifier.obd651555
dc.identifier.pubmed39224875
dc.subject.rivPrimary30000::30100::30103
dcterms.isPartOf.nameClinical Parkinsonism & Related Disorders
dcterms.isPartOf.issn2590-1125
dcterms.isPartOf.journalYear2024
dcterms.isPartOf.journalVolume11
dcterms.isPartOf.journalIssueAugust
uk.faculty.primaryId108
uk.faculty.primaryName1. lékařská fakultacs
uk.faculty.primaryNameFirst Faculty of Medicineen
uk.faculty.secondaryId53
uk.faculty.secondaryNameVšeobecná fakultní nemocnice v Prazecs
uk.faculty.secondaryNameVšeobecná fakultní nemocnice v Prazeen
uk.department.primaryId1527
uk.department.primaryNameNeurologická klinika 1. LF UK a VFNcs
uk.department.primaryNameDepartment of Neurologyen
uk.department.secondaryId5000002609
uk.department.secondaryId1522
uk.department.secondaryId5000002603
uk.department.secondaryNameNeurologická klinika 1.LF a VFNcs
uk.department.secondaryNameNeurologická klinika 1.LF a VFNen
uk.department.secondaryNameKlinika pediatrie a dědičných poruch metabolismu 1. LF a VFNcs
uk.department.secondaryNameDepartment of Paediatrics and Inherited Metabolic Disorders 1. LF UK a VFNen
uk.department.secondaryNameKlinika pediatrie a dědičných poruch metabolismu 1.LF a VFNcs
uk.department.secondaryNameKlinika pediatrie a dědičných poruch metabolismu 1.LF a VFNen
dc.type.obdHierarchyCsČLÁNEK V ČASOPISU::článek v časopisu::kazuistikacs
dc.type.obdHierarchyEnJOURNAL ARTICLE::journal article::casuisticsen
dc.type.obdHierarchyCode73::152::202en
uk.displayTitleDystonia: A novel sign of the Smith-Magenis syndrome – A three-case reporten


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