Cervical dystonia in monozygotic twins: Case report and review of the literature
Identifieur interne : 004848 ( Main/Exploration ); précédent : 004847; suivant : 004849Cervical dystonia in monozygotic twins: Case report and review of the literature
Auteurs : Silke Wunderlich [Allemagne] ; Karlheinz Reiners [Allemagne] ; Thomas Gasser [Allemagne] ; Markus Naumann [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2001-07.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Age of onset, Bibliographic survey, Case study, DYT1, Diseases in Twins (genetics), Dystonic Disorders (genetics), Early, Human, Humans, Male, Monozygotic twin, Pathogenesis, Pedigree, Spasmodic torticollis, Symptomatology, Torticollis (genetics), Twins, Monozygotic (genetics), dystonia, inheritance, monozygotic twins, torticollis spasmodicus.
- MESH :
- genetics : Diseases in Twins, Dystonic Disorders, Torticollis, Twins, Monozygotic.
- Adult, Humans, Male, Pedigree.
Abstract
We report on monozygotic male twins of German origin with early onset cervical dystonia. No other family members were affected. Although identical in age of onset and clinical course, there were phenotypic variations. While the second‐born, more affected twin suffered from a symmetric retrocollis, the twin brother mainly presented with a spasmodic torticollis to the left. Dystonia remained focal in both siblings. A DYT1 gene deletion was excluded. Including our patients, hitherto only four twin pairs with idiopathic dystonia have been reported. Although dystonia in twins can be remarkably uniform in some cases, major differences in terms of disease progression, remissions, and disability may be found. These observations underline the role of inheritance in the pathogenesis of idiopathic dystonia but also indicate that some other factors contribute to the clinical presentation of dystonia. © 2001 Movement Disorder Society.
Url:
DOI: 10.1002/mds.1128
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2001-07">2001-07</date><biblScope unit="vol">16</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="714">714</biblScope><biblScope unit="page" to="718">718</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">3E1E8A2099BF85D4AFE17ED20099F6DA5C4E8A59</idno><idno type="DOI">10.1002/mds.1128</idno><idno type="ArticleID">MDS1128</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of onset</term><term>Bibliographic survey</term><term>Case study</term><term>DYT1</term><term>Diseases in Twins (genetics)</term><term>Dystonic Disorders (genetics)</term><term>Early</term><term>Human</term><term>Humans</term><term>Male</term><term>Monozygotic twin</term><term>Pathogenesis</term><term>Pedigree</term><term>Spasmodic torticollis</term><term>Symptomatology</term><term>Torticollis (genetics)</term><term>Twins, Monozygotic (genetics)</term><term>dystonia</term><term>inheritance</term><term>monozygotic twins</term><term>torticollis spasmodicus</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Diseases in Twins</term><term>Dystonic Disorders</term><term>Torticollis</term><term>Twins, Monozygotic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Humans</term><term>Male</term><term>Pedigree</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Age apparition</term><term>Etude cas</term><term>Homme</term><term>Jumeau monozygote</term><term>Pathogénie</term><term>Précoce</term><term>Symptomatologie</term><term>Synthèse bibliographique</term><term>Torticolis spasmodique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on monozygotic male twins of German origin with early onset cervical dystonia. No other family members were affected. Although identical in age of onset and clinical course, there were phenotypic variations. While the second‐born, more affected twin suffered from a symmetric retrocollis, the twin brother mainly presented with a spasmodic torticollis to the left. Dystonia remained focal in both siblings. A DYT1 gene deletion was excluded. Including our patients, hitherto only four twin pairs with idiopathic dystonia have been reported. Although dystonia in twins can be remarkably uniform in some cases, major differences in terms of disease progression, remissions, and disability may be found. These observations underline the role of inheritance in the pathogenesis of idiopathic dystonia but also indicate that some other factors contribute to the clinical presentation of dystonia. © 2001 Movement Disorder Society.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bavière</li><li>District de Basse-Franconie</li><li>District de Haute-Bavière</li></region><settlement><li>Munich</li><li>Wurtzbourg</li></settlement></list><tree><country name="Allemagne"><region name="Bavière"><name sortKey="Wunderlich, Silke" sort="Wunderlich, Silke" uniqKey="Wunderlich S" first="Silke" last="Wunderlich">Silke Wunderlich</name></region><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Naumann, Markus" sort="Naumann, Markus" uniqKey="Naumann M" first="Markus" last="Naumann">Markus Naumann</name><name sortKey="Reiners, Karlheinz" sort="Reiners, Karlheinz" uniqKey="Reiners K" first="Karlheinz" last="Reiners">Karlheinz Reiners</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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