dc.contributor.author | Kunc, Lukáš | |
dc.contributor.author | Havránková, Petra | |
dc.contributor.author | Skorvanek, Matej | |
dc.contributor.author | Příhodová, Iva | |
dc.contributor.author | Poláková, Kamila | |
dc.contributor.author | Nosková, Lenka | |
dc.contributor.author | Tesařová, Markéta | |
dc.contributor.author | Honzík, Tomáš | |
dc.contributor.author | Zech, Michael | |
dc.contributor.author | Jech, Robert | |
dc.date.accessioned | 2024-12-04T11:40:54Z | |
dc.date.available | 2024-12-04T11:40:54Z | |
dc.date.issued | 2024 | |
dc.identifier.uri | https://hdl.handle.net/20.500.14178/2737 | |
dc.description.abstract | The 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.iso | en | |
dc.relation.url | https://doi.org/10.1016/j.prdoa.2024.100267 | |
dc.rights | Creative Commons Uveďte původ 4.0 International | cs |
dc.rights | Creative Commons Attribution 4.0 International | en |
dc.title | Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report | en |
dcterms.accessRights | openAccess | |
dcterms.license | https://creativecommons.org/licenses/by/4.0/legalcode | |
dc.date.updated | 2024-12-04T11:40:54Z | |
dc.subject.keyword | Dystonia | en |
dc.subject.keyword | Smith-Magenis syndrome | en |
dc.subject.keyword | Case report | en |
dc.subject.keyword | Genetic disorder | en |
dc.identifier.eissn | 2590-1125 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/MSM//LX22NPO5107 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/UK/COOP/COOP | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/FN/I-FN/RVO-VFN64165 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/MZ0/NU/NU23-07-00281 | |
dc.date.embargoStartDate | 2024-12-04 | |
dc.type.obd | 73 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | |
dc.identifier.doi | 10.1016/j.prdoa.2024.100267 | |
dc.identifier.utWos | 001295095000001 | |
dc.identifier.eidScopus | 2-s2.0-85200822564 | |
dc.identifier.obd | 651555 | |
dc.identifier.pubmed | 39224875 | |
dc.subject.rivPrimary | 30000::30100::30103 | |
dcterms.isPartOf.name | Clinical Parkinsonism & Related Disorders | |
dcterms.isPartOf.issn | 2590-1125 | |
dcterms.isPartOf.journalYear | 2024 | |
dcterms.isPartOf.journalVolume | 11 | |
dcterms.isPartOf.journalIssue | August | |
uk.faculty.primaryId | 108 | |
uk.faculty.primaryName | 1. lékařská fakulta | cs |
uk.faculty.primaryName | First Faculty of Medicine | en |
uk.faculty.secondaryId | 53 | |
uk.faculty.secondaryName | Všeobecná fakultní nemocnice v Praze | cs |
uk.faculty.secondaryName | Všeobecná fakultní nemocnice v Praze | en |
uk.department.primaryId | 1527 | |
uk.department.primaryName | Neurologická klinika 1. LF UK a VFN | cs |
uk.department.primaryName | Department of Neurology | en |
uk.department.secondaryId | 5000002609 | |
uk.department.secondaryId | 1522 | |
uk.department.secondaryId | 5000002603 | |
uk.department.secondaryName | Neurologická klinika 1.LF a VFN | cs |
uk.department.secondaryName | Neurologická klinika 1.LF a VFN | en |
uk.department.secondaryName | Klinika pediatrie a dědičných poruch metabolismu 1. LF a VFN | cs |
uk.department.secondaryName | Department of Paediatrics and Inherited Metabolic Disorders 1. LF UK a VFN | en |
uk.department.secondaryName | Klinika pediatrie a dědičných poruch metabolismu 1.LF a VFN | cs |
uk.department.secondaryName | Klinika pediatrie a dědičných poruch metabolismu 1.LF a VFN | en |
dc.type.obdHierarchyCs | ČLÁNEK V ČASOPISU::článek v časopisu::kazuistika | cs |
dc.type.obdHierarchyEn | JOURNAL ARTICLE::journal article::casuistics | en |
dc.type.obdHierarchyCode | 73::152::202 | en |
uk.displayTitle | Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report | en |