Abnormal movements in Rett syndrome are present before the regression period: A case study
Identifieur interne : 003044 ( Main/Exploration ); précédent : 003043; suivant : 003045Abnormal movements in Rett syndrome are present before the regression period: A case study
Auteurs : Teresa Temudo [Portugal] ; Patricia Maciel [Portugal] ; Jorge Sequeiros [Portugal]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-11-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Abnormal movement, Case study, Dystonia, Female, Humans, Infant, Methyl-CpG-Binding Protein 2 (genetics), Movement Disorders (diagnosis), Movement Disorders (etiology), Movement Disorders (genetics), Nervous system diseases, Rett Syndrome (complications), Rett Syndrome (diagnosis), Rett Syndrome (genetics), Rett syndrome, Stereotypy, Transients, Videotape Recording, paroxysmal dystonia., stereotypies, transient dystonia.
- MESH :
- chemical , genetics : Methyl-CpG-Binding Protein 2.
- complications : Rett Syndrome.
- diagnosis : Movement Disorders, Rett Syndrome.
- etiology : Movement Disorders.
- genetics : Movement Disorders, Rett Syndrome.
- Female, Humans, Infant, Videotape Recording.
Abstract
The suspicion of a diagnosis of Rett syndrome (RTT) is based on clinical criteria that are often not present in the first two stages of the disease, as many of its symptoms will appear at a later age. This sometimes postpones the genetic diagnosis and an early clinical intervention. We present the case of 19‐months‐old girl who came to the consultation because of an arrest of psychomotor development noticed 5 months earlier without change in sleep pattern, behavior, or social communication. In the observation of 1 hour videotape, she presented subtle stereotypic movements of the face and hands as well as repetitive dystonic posturing of her limbs. A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X). This case confirms that stereotypic movement anomalies, albeit infrequent and subtle, are already present before the regression stage and while maintaining prehension and that, in addition, repetitive dystonic postures may occur. Recognition of these early movement disorders will improve clinicians' ability to perform an earlier diagnosis of RTT. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21744
Affiliations:
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This sometimes postpones the genetic diagnosis and an early clinical intervention. We present the case of 19‐months‐old girl who came to the consultation because of an arrest of psychomotor development noticed 5 months earlier without change in sleep pattern, behavior, or social communication. In the observation of 1 hour videotape, she presented subtle stereotypic movements of the face and hands as well as repetitive dystonic posturing of her limbs. A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X). This case confirms that stereotypic movement anomalies, albeit infrequent and subtle, are already present before the regression stage and while maintaining prehension and that, in addition, repetitive dystonic postures may occur. Recognition of these early movement disorders will improve clinicians' ability to perform an earlier diagnosis of RTT. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Portugal</li></country></list><tree><country name="Portugal"><noRegion><name sortKey="Temudo, Teresa" sort="Temudo, Teresa" uniqKey="Temudo T" first="Teresa" last="Temudo">Teresa Temudo</name></noRegion><name sortKey="Maciel, Patricia" sort="Maciel, Patricia" uniqKey="Maciel P" first="Patricia" last="Maciel">Patricia Maciel</name><name sortKey="Sequeiros, Jorge" sort="Sequeiros, Jorge" uniqKey="Sequeiros J" first="Jorge" last="Sequeiros">Jorge Sequeiros</name><name sortKey="Sequeiros, Jorge" sort="Sequeiros, Jorge" uniqKey="Sequeiros J" first="Jorge" last="Sequeiros">Jorge Sequeiros</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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