Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S1, Goldstein A2, Koenig MK3, Scaglia F4, Enns GM5, Saneto R6, Anselm I7, Cohen BH8, Falk MJ9, Greene C10, Gropman AL11, Haas R12, Hirano M13,Morgan P14, Sims K15, Tarnopolsky M16, Van Hove JL17, Wolfe L18, DiMauro S13.

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Abstract

Purpose:The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and treatment. This statement is intended for physicians who are engaged in diagnosing and treating these patients. Methods:The Writing Group members were appointed by the Mitochondrial Medicine Society. The panel included members with expertise in several different areas. The panel members utilized a comprehensive review of the literature, surveys, and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve. Results:Consensus-based recommendations are provided for the diagnosis and treatment of mitochondrial disease.Conclusion:The Delphi process enabled the formation of consensus-based recommendations. We hope that these recommendations will help standardize the evaluation, diagnosis, and care of patients with suspected or demonstrated mitochondrial disease.Genet Med advance online publication 11 December 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.177.