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.
muscular dystrophy, Duchenne; practice guideline; consensus; diagnosis; genetic testing; drug therapy; glucocorticoids; utrophin
a: Includes delay of gait or speech acquisition, intellectual deficiency or autism spectrum disorders; b: defined as CK levels > 2,000U/L; c: southern blot analysis and multiplex PCR of DMD are alternatives; d: single exon deletion on MLPA should be confirmed by a second method; aCGH: Comparative Genomic Hybridization microarray; CK: Creatine Kinase; DMD: Duchenne muscular dystrophy; MLPA: Multiplex Ligation-dependent Probe Amplification; NGS: next-generation sequencing; +: indicates abnormal results consistent with DMD diagnosis; -: indicates normal results.