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

Alexandra P. Q. C. Araujo; Alzira A. S. de Carvalho; Eduardo B. U. Cavalcanti; Jonas Alex M. Saute; Elmano Carvalho; Marcondes C. França Junior; Alberto R. M. Martinez; Monica de M. M. Navarro; Anamarli Nucci; Maria Bernadete D. de Resende; Marcus Vinicius M. Gonçalves; Juliana Gurgel-Giannetti; Rosana H. Scola; Cláudia F. da R. Sobreira; Umbertina C. Reed; Edmar Zanoteli

doi:10.1590/0004-282X20170112

Arquivos de Neuro-Psiquiatria, Table of Contents

CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2017; 75(08): 589-599
DOI: 10.1590/0004-282X20170112

CONSENSUS

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

Consenso brasileiro sobre distrofia muscular de Duchenne - Parte 1 diagnóstico, corticoterapia e perspectivas

Alexandra P. Q. C. Araujo

¹Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro, RJ, Brasil;

,

Alzira A. S. de Carvalho

²Faculdade de Medicina do ABC, Santo André SP, Brasil;

,

Eduardo B. U. Cavalcanti

³Rede Sarah de Reabilitação, Ambulatório de Doenças Neuromusculares, Brasília DF, Brasil;

,

Jonas Alex M. Saute

⁴Hospital de Clinicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre RS, Brasil;

,

Elmano Carvalho

⁵Rede SARAH de Hospitais de Reabilitação, Equipe de Doenças Neuromusculares, Belo Horizonte MG, Brasil;

,

Marcondes C. França Junior

⁶Universidade Estadual de Campinas, Departamento de Neurologia, Campinas SP, Brasil;

,

Alberto R. M. Martinez

⁶Universidade Estadual de Campinas, Departamento de Neurologia, Campinas SP, Brasil;

,

Monica de M. M. Navarro

⁵Rede SARAH de Hospitais de Reabilitação, Equipe de Doenças Neuromusculares, Belo Horizonte MG, Brasil;

,

Anamarli Nucci

⁶Universidade Estadual de Campinas, Departamento de Neurologia, Campinas SP, Brasil;

,

Maria Bernadete D. de Resende

⁷Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil;

,

Marcus Vinicius M. Gonçalves

⁸Universidade da Região de Joinville, Joinville SC, Brasil;

,

Juliana Gurgel-Giannetti

⁹Universidade Federal de Minas Gerais, Faculdade de Medicina, Belo Horizonte MG, Brasil;

,

Rosana H. Scola

¹⁰Universidade Federal do Paraná, Serviço de Doenças Neuromusculares, Curitiba PR, Brasil;

,

Cláudia F. da R. Sobreira

¹¹Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirão Preto SP, Brasil.

,

Umbertina C. Reed

⁷Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil;

,

Edmar Zanoteli

⁷Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil;

› Author Affiliations

Abstract

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.

RESUMO

Avanços na compreensão e no manejo da distrofia muscular de Duchenne (DMD) ocorreram desde a publicação de diretrizes internacionais em 2010. Nosso objetivo foi elaborar um consenso nacional baseado em evidências de cuidado multidisciplinar dos pacientes com DMD no Brasil. Utilizamos a técnica de Delphi combinada com revisão sistemática da literatura de 2010 a 2016 classificando níveis de evidência e graus de recomendação. Nossas recomendações foram divididas em duas partes. Apresentamos aqui a parte 1, descrevendo a metodologia utilizada e conceitos gerais da doença, e fornecemos recomendações sobre diagnóstico, tratamento com corticosteroides e novas perspectivas de tratamentos medicamentosos. As principais recomendações: 1) testes genéticos deveriam ser a primeira linha para confirmação de casos suspeitos; 2) pacientes com diagnóstico de DMD devem receber corticosteroides; 3) por enquanto, a falta de publicações de resultados dos ensaios clínicos de fase 3, dificulta recomendações de uso medicamentos que “saltam exons” ou “passam” por código de parada prematura.

muscular dystrophy, Duchenne - practice guideline - consensus - diagnosis - genetic testing - drug therapy - glucocorticoids - utrophin

distrofia muscular de Duchenne, guia de prática clínica - consenso - diagnóstico - testes genéticos - tratamento farmacológico - glucocorticoides - utrofina

Full Text

References

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