Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges

Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell Saneto, Irina Anselm, Abigail Collins, Bruce H. Cohen, Suzanne D. DeBrosse, David Dimmock, Marni J. Falk, Jaya Ganesh, Carol Greene, Andrea L. Gropman, Richard Haas, Stephen G. Kahler, John Kamholz, Fran Kendall, Mark S. KorsonAndre Mattman, Margherita Milone, Dmitriy Niyazov, Phillip L. Pearl, Tyler Reimschisel, Ramona Salvarinova-Zivkovic, Katherine Sims, Mark Tarnopolsky, Chang Yong Tsao, Johan van Hove, Laurence Walsh, Lynne A. Wolfe

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Mitochondrial medicine is a young subspecialty. Clinicians have a limited evidence base on which to formulate clinical decisions regarding diagnosis, treatment and patient management. Mitochondrial medicine specialists have cobbled together an informal set of rules and paradigms for preventive care and management based in part on anecdotal experience. The Mitochondrial Medicine Society (MMS) assessed the current state of clinical practice from diagnosis, to preventive care and treatment, as provided by various mitochondrial disease specialists in North America. We hope that by obtaining this information we can begin moving towards formulating a set of consensus criteria and establishing standards of care.

Original languageEnglish (US)
Pages (from-to)26-33
Number of pages8
Issue number1
StatePublished - Jan 2014


  • Clinical guidelines
  • Mitochondrial disease
  • Mitochondrial medicine

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Cell Biology


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