title: Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.
abstract: 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.
authors.affiliation: Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, OH, United States. Electronic address: parikhs@ccf.org.
authors.forename: Sumit
authors.initials: S
authors.lastname: Parikh
authors.affiliation: Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.
authors.forename: Amy
authors.initials: A
authors.lastname: Goldstein
authors.affiliation: Division of Child & Adolescent Neurology, University of Texas Medical School at Houston, Houston, TX, United States.
authors.forename: Mary Kay
authors.initials: MK
authors.lastname: Koenig
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine & Texas Children's Hospital, Houston, TX, United States.
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Stanford University Lucile Packard Children's Hospital, Palo Alto, CA, United States.
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Enns
authors.affiliation: Seattle Children's Hospital/University of Washington, Seattle, WA, United States.
authors.forename: Russell
authors.initials: R
authors.lastname: Saneto
authors.forename: Irina
authors.initials: I
authors.lastname: Anselm
authors.forename: Abigail
authors.initials: A
authors.lastname: Collins
authors.forename: Bruce H
authors.initials: BH
authors.lastname: Cohen
authors.forename: Suzanne D
authors.initials: SD
authors.lastname: DeBrosse
authors.forename: David
authors.initials: D
authors.lastname: Dimmock
authors.forename: Marni J
authors.initials: MJ
authors.lastname: Falk
authors.forename: Jaya
authors.initials: J
authors.lastname: Ganesh
authors.forename: Carol
authors.initials: C
authors.lastname: Greene
authors.forename: Andrea L
authors.initials: AL
authors.lastname: Gropman
authors.forename: Richard
authors.initials: R
authors.lastname: Haas
authors.forename: Stephen G
authors.initials: SG
authors.lastname: Kahler
authors.forename: John
authors.initials: J
authors.lastname: Kamholz
authors.forename: Fran
authors.initials: F
authors.lastname: Kendall
authors.forename: Mark S
authors.initials: MS
authors.lastname: Korson
authors.forename: Andre
authors.initials: A
authors.lastname: Mattman
authors.forename: Margherita
authors.initials: M
authors.lastname: Milone
authors.forename: Dmitriy
authors.initials: D
authors.lastname: Niyazov
authors.forename: Phillip L
authors.initials: PL
authors.lastname: Pearl
authors.forename: Tyler
authors.initials: T
authors.lastname: Reimschisel
authors.forename: Ramona
authors.initials: R
authors.lastname: Salvarinova-Zivkovic
authors.forename: Katherine
authors.initials: K
authors.lastname: Sims
authors.forename: Mark
authors.initials: M
authors.lastname: Tarnopolsky
authors.forename: Chang-Yong
authors.initials: CY
authors.lastname: Tsao
authors.forename: Johan
authors.initials: J
authors.lastname: van Hove
authors.forename: Laurence
authors.initials: L
authors.lastname: Walsh
authors.forename: Lynne A
authors.initials: LA
authors.lastname: Wolfe
mesh_terms: D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000517:prevention & control / Q000628:therapy*; D009656:North America; D010820:Physicians; D010818:Practice Patterns, Physicians' / Q000706:statistics & numerical data*
keywords: Clinical guidelines; Mitochondrial disease; Mitochondrial medicine