Format

Send to

Choose Destination
Arq Neuropsiquiatr. 2017 Aug;75(8):104-113. doi: 10.1590/0004-282X20170112.

Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives.

Author information

1
Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro, RJ, Brasil.
2
Faculdade de Medicina do ABC, Santo André SP, Brasil.
3
Rede Sarah de Reabilitação, Ambulatório de Doenças Neuromusculares, Brasília DF, Brasil.
4
Hospital de Clinicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre RS, Brasil.
5
Rede SARAH de Hospitais de Reabilitação, Equipe de Doenças Neuromusculares, Belo Horizonte MG, Brasil.
6
Universidade Estadual de Campinas, Departamento de Neurologia, Campinas SP, Brasil.
7
Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil.
8
Universidade da Região de Joinville, Joinville SC, Brasil.
9
Universidade Federal de Minas Gerais, Faculdade de Medicina, Belo Horizonte MG, Brasil.
10
Universidade Federal do Paraná, Serviço de Doenças Neuromusculares, Curitiba PR, Brasil.
11
Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirão Preto SP, Brasil.

Abstract

Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations. Our recommendations were divided in two parts. We present Part 1 here, where we describe the guideline methodology and overall disease concepts, and also provide recommendations on diagnosis, steroid therapy and new drug treatment perspectives for DMD. The main recommendations: 1) genetic testing in diagnostic suspicious cases should be the first line for diagnostic confirmation; 2) patients diagnosed with DMD should have steroids prescribed; 3) lack of published results for phase 3 clinical trials hinders, for now, the recommendation to use exon skipping or read-through agents.

PMID:
28813090
DOI:
10.1590/0004-282X20170112
[Indexed for MEDLINE]

Supplemental Content

Loading ...
Support Center