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

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.

journal_name

Arq Neuropsiquiatr

authors

Araujo APQC,Carvalho AAS,Cavalcanti EBU,Saute JAM,Carvalho E,França MC Junior,Martinez ARM,Navarro MMM,Nucci A,Resende MBD,Gonçalves MVM,Gurgel-Giannetti J,Scola RH,Sobreira CFDR,Reed UC,Zanoteli E

doi

10.1590/0004-282x20170112

subject

Has Abstract

pub_date

2017-08-01 00:00:00

pages

104-113

issue

8

eissn

0004-282X

issn

1678-4227

pii

S0004-282X2017000800104

journal_volume

75

pub_type

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