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

Arq Neuropsiquiatr. 2017 Aug;75(8):104-113. doi: 10.1590/0004-282x20170112.

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.

Publication types

  • Practice Guideline

MeSH terms

  • Brazil
  • Clinical Trials as Topic
  • Delphi Technique
  • Evidence-Based Medicine*
  • Follow-Up Studies
  • Genetic Testing
  • Glucocorticoids / therapeutic use*
  • Humans
  • Muscular Dystrophy, Duchenne / diagnosis*
  • Muscular Dystrophy, Duchenne / drug therapy*
  • Muscular Dystrophy, Duchenne / genetics
  • Patient Care Team
  • Review Literature as Topic
  • Treatment Outcome

Substances

  • Glucocorticoids