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Leigh Disease
Definition: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).

Synonym(s): Encephalomyelitis, Subacute Necrotizing / Encephalopathy, Subacute Necrotizing / Encephalomyelopathy, Subacute Necrotizing / Encephalopathy, Subacute Necrotizing, Infantile / Encephalopathy, Subacute Necrotizing, Juvenile / Infantile Leigh Disease / Infantile Subacute Necrotizing Encephalopathy / Juvenile Leigh Disease / Juvenile Subacute Necrotizing Encephalopathy / Leigh Disease, Infantile / Leigh Disease, Juvenile / Leigh Syndrome / Leigh's Disease / Subacute Necrotizing Encephalomyelitis, Infantile / Subacute Necrotizing Encephalopathy / Subacute Necrotizing Encephalopathy, Infantile / Subacute Necrotizing Encephalopathy, Juvenile / Disease, Leigh's / Encephalomyelitides, Subacute Necrotizing / Encephalomyelopathies, Subacute Necrotizing / Encephalopathies, Subacute Necrotizing / Leighs Disease / Necrotizing Encephalomyelitides, Subacute / Necrotizing Encephalomyelitis, Subacute / Necrotizing Encephalomyelopathies, Subacute / Necrotizing Encephalomyelopathy, Subacute / Necrotizing Encephalopathies, Subacute / Necrotizing Encephalopathy, Subacute / Subacute Necrotizing Encephalomyelitides / Subacute Necrotizing Encephalomyelitis / Subacute Necrotizing Encephalomyelopathies / Subacute Necrotizing Encephalomyelopathy / Subacute Necrotizing Encephalopathies
See also:
Cytochrome-c Oxidase Deficiency  Pyruvate Dehydrogenase Complex Deficiency Disease   

MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Leigh Disease"
  English (7)            

= Site with HON description   -   = Site with a robot description
info: enter the site: (click below) domain of the site:  
view the HON description of the site HONcode - Orphanet: Leigh syndromewww.orpha.net 6
view the robot description of the site Leigh's Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 2
view the robot description of the site BBC - Health: Leigh's disease www.bbc.co.uk  
view the robot description of the site Consumer Health Informationhealthlink.mcw.edu  
view the HON description of the site HONcode - MT-ND5 - mitochondrially encoded NADH dehydrogenase 5 - Genetics Home Referenceghr.nlm.nih.gov  
view the HON description of the site HONcode - PALS (People Affected by Leigh's Syndrome) Homepagebiochemgen.ucsd.edu  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
 
 

See also: - Cytochrome-c Oxidase Deficiency

Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Mitochondrial Diseases - Metabolic Diseases - Nutritional and Metabolic Diseases
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  Medical image(s) for "Leigh Disease"
click below to enlargeAreas of signal hypointensity in putamen bilaterally as well as in the head of the caudate nucleus on T1-weighted images (Leigh's disease)
www.indianpediatrics.net
Indian Pediatrics Areas of signal hypointensity in putamen bilaterally as well as in the head of the caudate nucleus on T1-weighted images (Leigh's disease)
Copyright © Sheffali Gulati, Meera Vaswani, Veena Kalra, Madhulika Kabra and Manjeet Kaur
Broader term(s): - Brain Diseases, Metabolic - Brain Diseases - Nervous System Diseases
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  Medical News for "Leigh Disease"
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Broader term(s): - Nervous System Diseases

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  Scientific articles from MEDLINE for "Leigh Disease"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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  Clinical Trials for "Leigh Disease"
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Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Metabolism, Inborn Errors - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Mitochondrial Diseases - Metabolic Diseases

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Mitochondrial Diseases 
                  Metabolism, Inborn Errors
                      Carbohydrate Metabolism, Inborn Errors
                          Pyruvate Metabolism, Inborn Errors 
                      Brain Diseases, Metabolic, Inborn 
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Brain Diseases, Metabolic
                      Brain Diseases, Metabolic, Inborn 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors
                      Carbohydrate Metabolism, Inborn Errors
                          Pyruvate Metabolism, Inborn Errors 
                      Brain Diseases, Metabolic, Inborn 
      Diseases
          Nervous System Diseases
              Central Nervous System Diseases
                  Brain Diseases
                      Brain Diseases, Metabolic
                          Brain Diseases, Metabolic, Inborn 

MeSH 2010 © U.S. National Library of Medicine®.

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