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Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.107. Epub 2017 Jul 27.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Author information

1
Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.
2
Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
3
Division of Genetics, Massachusetts General Hospital, Boston, Massachusetts, USA.
4
Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas, USA.
5
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
6
Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
7
Neurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute, and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Australia.
8
Neurodevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio, USA.
9
Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
10
Division of Medical Genetics, Department of Pediatrics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California, USA.
11
Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
12
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
13
Department of Pediatrics, University of California San Diego and Rady Childrens Hospital, San Diego, California, USA.
14
Department of Pediatrics, University of Arkansas Medical Sciences, Little Rock, Arkansas, USA.
15
Division of Genetics, Department of Pediatrics, Cooper Medical School at Rowan University, Camden, New Jersey, USA.
16
Division of Neurology, Levine Children's Hospital, Charlotte, North Carolina, USA.
17
Departments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, California, USA.
18
Department of Neurosciences, Rady Children's Hospital, San Diego, California, USA.
19
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
20
Genetic Metabolic Center for Education, Salem, Massachusetts, USA.
21
Department of Pediatric Neurology, University of Arizona College of Medicine, Phoenix, Arizona, USA.
22
Department of Experimental and Clinical Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
23
Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
24
Department of Cardiology, CHU Sainte-Justine, Montreal, Quebec, Canada.
25
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
26
Division of Biochemical Diseases, BC Children's Hospital, British Columbia, Canada.
27
Department of Neurology, Seattle Children's Hospital/University of Washington, Seattle, Washington, USA.
28
Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.
29
Neurology, Biochemical & Molecular Genetics, Atlanta, Georgia, USA.
30
Department of Medicine, University of Florida College of Medicine, Gainesville, Florida, USA.
31
Department of Neurology and Kolling Institute, Royal North Shore Hospital, St Leonards, Australia.
32
Division of Neurology, McMaster University, Hamilton, Ontario, Canada.
33
Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
34
Department of Pediatrics, Centre for Molecular Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
35
Undiagnosed Diseases Network, National Institutes of Health, Bethesda, Maryland, USA.
36
Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
37
Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
38
Department of Clinical Neurosciences & MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

Abstract

The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients. Working group members were appointed by the Mitochondrial Medicine Society. The panel included members with several different areas of expertise. The panel members utilized surveys and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve. Consensus-based recommendations are provided for the routine care and management of patients with primary genetic mitochondrial disease.

PMID:
28749475
DOI:
10.1038/gim.2017.107
[Indexed for MEDLINE]

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