Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/67775
Título: | Abnormal movements in Rett syndrome are present before the regression period: a case study |
Autor(es): | Temudo, Teresa Maciel, P. Sequeiros, Jorge |
Palavras-chave: | Female Humans Infant Methyl-CpG-Binding Protein 2 Movement Disorders Rett Syndrome Videotape Recording Stereotypies Transient dystonia Paroxysmal dystonia |
Data: | Nov-2007 |
Editora: | Wiley |
Revista: | Movement Disorders |
Citação: | Temudo, T., Maciel, P., & Sequeiros, J. (2007). Abnormal movements in Rett syndrome are present before the regression period: A case study. Movement disorders: official journal of the Movement Disorder Society, 22(15), 2284-2287 |
Resumo(s): | 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. |
Tipo: | Artigo |
Descrição: | https://onlinelibrary.wiley.com/doi/full/10.1002/mds.21744 |
URI: | https://hdl.handle.net/1822/67775 |
DOI: | 10.1002/mds.21744 |
ISSN: | 0885-3185 |
e-ISSN: | 1531-8257 |
Versão da editora: | https://dx.doi.org/10.1002/mds.21744 |
Arbitragem científica: | yes |
Acesso: | Acesso restrito UMinho |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Temudo-2007-Abnormal-movements-in-rett-syndrome.pdf Acesso restrito! | 81,98 kB | Adobe PDF | Ver/Abrir |