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Concept information

Preferred term

Leigh Disease  

Type

  • mesh:Descriptor

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).

Entry terms

  • Encephalomyelitis, Subacute Necrotizing
  • Encephalomyelopathy, Subacute Necrotizing
  • Encephalopathy, Subacute Necrotizing
  • Leigh's Disease
  • Leigh Syndrome
  • Subacute Necrotizing Encephalomyelopathy
  • Subacute Necrotizing Encephalopathy

In other languages

  • French

  • Encéphalo-myélopathie nécrosante subaiguë
  • Encéphalo-myélopathie nécrosante subaigüe
  • Encéphalomyélopathie nécrosante subaiguë
  • Encéphalomyélopathie nécrosante subaigüe
  • Encéphalopathie nécrosante subaiguë
  • Encéphalopathie nécrosante subaigüe
  • Encéphalopathie subaiguë nécrosante
  • Encéphalopathie subaigüe nécrosante

URI

http://data.loterre.fr/ark:/67375/JVR-N78C0W1D-7

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