Identificador persistente para citar o vincular este elemento:
http://hdl.handle.net/10553/48330
Campo DC | Valor | idioma |
---|---|---|
dc.contributor.author | Cabrera-López, J. C. | en_US |
dc.contributor.author | Martí-Herrero, M. | en_US |
dc.contributor.author | Fernández-Burriel, M. | en_US |
dc.contributor.author | Toledo Bravo de Laguna, L. | en_US |
dc.contributor.author | Domínguez-Ramírez, S. | en_US |
dc.contributor.author | Fortea-Sevilla, S. | en_US |
dc.date.accessioned | 2018-11-23T20:47:22Z | - |
dc.date.available | 2018-11-23T20:47:22Z | - |
dc.date.issued | 2003 | en_US |
dc.identifier.issn | 0210-0010 | en_US |
dc.identifier.uri | http://hdl.handle.net/10553/48330 | - |
dc.description.abstract | Case reports: We report the cases of four males from four different families, who presented paroxysmal episodes from the 1st 2nd year. These episodes were characterised by asymmetrical bilateral dystonia of the upper limbs, predominantly in both hands, and were associated with orofacial dyskinesias, stereotipies (jumping, arm flapping, etc.), facial tics and, occasionally, phonic tics. Consciousness is not affected in any of the cases. These movements are triggered in situations where the patient is relaxed or excited. They occur daily and last from a few seconds to 30 minutes. Between the bouts, they remain asymptomatic. Family cases suggest it is inherited by autosomal dominant transmission, perhaps linked to the X chromosome; in addition, two cases are sporadic. In the only adult, the movements progress to a series of rhythmic bilateral dystonic myoclonias and facial tics dyskinesias. All the studies carried out, EEG, hemogram, biochemical analysis, neuroimaging, copper and ceruloplasmin levels, were normal. Conclusions: 1. We report a non epileptic paroxysmal disorder originating in the extrapyramidal tracts with its own characteristics, with onset during early childhood, which is associated with stereotipies, tics and dystonia; 2. It occurs predominantly in males; 3. It is inherited by autosomal dominant transmission, or perhaps sex linked autosomal dominant inheritance, and there are also sporadic cases; 4. The range of clinical features is very wide and includes cases in which there are few symptoms to others where the extent and gravity of the disorder is very significant. | en_US |
dc.language | eng | en_US |
dc.relation.ispartof | Revista de Neurologia | en_US |
dc.source | Revista de Neurologia [ISSN 0210-0010], v. 36 (8), p. 729-734 | en_US |
dc.subject | 32 Ciencias médicas | en_US |
dc.subject | 320507 Neurología | en_US |
dc.title | Paroxysmal stereotypy-tic-dystonia syndrome | en_US |
dc.type | info:eu-repo/semantics/article | en_US |
dc.type | Article | en_US |
dc.identifier.pmid | 12717651 | - |
dc.identifier.scopus | 0038625403 | - |
dc.contributor.authorscopusid | 6602314344 | - |
dc.contributor.authorscopusid | 56636191600 | - |
dc.contributor.authorscopusid | 6602963657 | - |
dc.contributor.authorscopusid | 6506979117 | - |
dc.contributor.authorscopusid | 6504158129 | - |
dc.contributor.authorscopusid | 6504201126 | - |
dc.description.lastpage | 734 | en_US |
dc.description.firstpage | 729 | en_US |
dc.relation.volume | 36 | en_US |
dc.investigacion | Ciencias de la Salud | en_US |
dc.type2 | Artículo | en_US |
dc.utils.revision | Sí | en_US |
dc.identifier.ulpgc | Sí | en_US |
dc.contributor.buulpgc | BU-MED | en_US |
dc.description.jcr | 0,201 | - |
dc.description.jcrq | Q4 | - |
dc.description.scie | SCIE | - |
item.fulltext | Sin texto completo | - |
item.grantfulltext | none | - |
Colección: | Artículos |
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