Genetic Study of Primary Dystonias: Recommendations from the Centro Hospitalar Sao Joao Neurogenetics Group

• Tipo: Artigo em Revista Científica Internacional
• Data: 2017

Autores

Monteiro, A (Autor) Outra; João Massano (Autor) FMUP; Leão, M (Autor) Outra; Garrett, C (Autor) Outra; Carla Pinto Moura (Autor) FMUP; Elsa Azevedo (Autor) FMUP; Guimarães, J (Autor) Outra; João Paulo Oliveira (Autor) FMUP; Castro, P (Autor) Outra

Revista

Título: Acta Medica Portuguesa

Vol. 30

Páginas: 340-346

ISSN: 0870-399X

Editora: Ordem dos Medicos

Indexação

ISI Web of Knowledge - 1 Citação

Scopus - 2 Citações

Outras Informações

ID Authenticus: P-00M-RY9

DOI: 10.20344/amp.8622

Abstract (EN): The primary dystonias are a particular group of dystonias of presumed genetic origin, with a wide age of onset and variable progression. The diagnosis is, therefore, a challenge and the issue of the genetic investigation presents frequently in clinical practice. In the past few years several gene mutations have been identified as causative of primary dystonias. The choice of molecular testing is complex, given the clinical specificities and low frequency of these entities and the cost of genetic testing. It must follow observation by specialized clinicians highly differentiated in this area and be supported by a rational plan of investigation. The Centro Hospitalar Sao Joao Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of the primary dystonias, based on international consensus documents and recent published scientific evidence. This manuscript adopts the new classification system for genetic movement disorders, allowing for its systematic and standardized use in clinical practice.

Idioma: Português

Tipo (Avaliação Docente): Científica

Nº de páginas: 7