mitochondrial disease

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mitochondrial disease

n.
Any of various diseases caused by malfunctioning of mitochondria as a result of inherited or acquired mutations in mitochondrial or nuclear DNA, typically affecting several organ systems, especially the nervous and muscular systems.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

mitochondrial disease

Any clinically heterogeneous multisystem disease characterized by defects of brain–mitochondrial encephalopathies and/or muscle–mitochondrial myopathies due to alterations in the protein complexes of the electron transport chain of oxidative phosphorylation; MDs include Alper syndrome, Leber's hereditary optic neuropathy, Lowe syndrome, Luft syndrome, Menke's kinky hair syndrome, Zellweger syndrome, MELAS, MERRF, mitochondrial myopathy, rhizomelic chondrodysplasia punctata, and stroke-like episodes. See MELAS, MERRF.
Mitochondrial diseases
Group 1 Progressive external ophthalmoplegias
• Kearns-Sayre disease Ophthalmoplegia plus syndrome
• Ocular myopathy
• Leber's hereditary optic neuropathy–due to a point mutation
Group 2 Mitochondrial encephalomyopathies
• Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
• Myoclonus epilepsy with ragged red fibers
• Leigh syndrome
Group 3 Undefined mitochondrial encephalomyopathies, eg congenital lactic acidosis
Group 4 Mitochondrial myopathies
• Luft syndrome
• Enzyme defects, eg ATPase, cytochrome oxidase  
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

mitochondrial disease

(mī″tō-kŏn′drē-ăl)
Any of hundreds of congenital illnesses that result from mutations in the DNA of mitochondria. Mitochondrial diseases are transmitted from mother to child.
Medical Dictionary, © 2009 Farlex and Partners
References in periodicals archive ?
Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand 2006 Oct;114(4):217-238.
This study provides a first overview of the activity categories of children with a mitochondrial disorder. Three occupational performance areas: personal maintenance, productivity, and leisure [33] comprised, as reported by allied health professionals in patient records, nine activity categories: self-care, house chores, therapy, school, computing, hobby, play, sports, and mobility/transport.
"Shannon you inspired our family years ago when we first sought HBOT for our children with a mitochondrial disorder. Watching you talk on "The Montel Williams Show" about successfully treating Grace's mitochondrial disorder with HBOT, gave us the inspiration and drive to get treatment for our kids too.
One of the newer developments in the science of autism includes the links to mitochondrial disorders. Guilivi et al.
Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2012;4:CD004426.
This presentation constitutes a "possible" primary mitochondrial disorder as per Bernier criteria [62].
About one in 200 children is born every year in Britain with a mitochondrial disorder.
And sadly her parents Tom, 33, and 35-year-old Lisa know all too well the tragedy that could await her because they lost their son Christian to the same mitochondrial disorder 10 years ago.
Fergus Sweeney and Leonna Mayor will both be doing just that on Sunday when they and four other racing personalities undertake a charity skydive in support of the Tiana Honey Watson Fund for Children with Mitochondrial Disorder and the Injured Jockeys' Fund.
"This is the first proven treatment for a mitochondrial disorder," said Professor Patrick Chinnery, a Wellcome Trust Senior Fellow in Clinical Science at Newcastle University.
Although electron microscopy is well known to recognize quantitative and morphologic changes in mitochondria, none of the ultrastructural findings are specific for primary mitochondrial disorders. However, in patients who are suspected of having a primary mitochondrial disorder, electron microscopy could be more sensitive than histochemical stains in finding abnormal mitochondria, leading to further diagnostic workup.
Ethan, who suffers from mitochondrial disorder and chronic lung disease, was born with multiple holes in his heart and is unable to eat, talk or walk normally.

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