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Results 21 - 30 of 57 for Progressive encephalopathy
  1. OPA1 gene 
    ... weakness in the muscles that control eye movement (progressive external ... dysfunction (encephalopathy), loss of sensation and weakness in the limbs ( ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  2. Beta-propeller protein-associated neurodegeneration 
    ... mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet. 2013 Apr;45(4):445-9, 449e1. doi: 10.1038/ng.2562. Epub 2013 Feb 24. Citation on PubMed
    https://medlineplus.gov/...ller-protein-associated-neurodegeneration - Genetics
  3. Hepatic Encephalopathy Video (American Liver Foundation)  
    ... Diseases > Complications of Liver Disease > Hepatic Encephalopathy Hepatic Encephalopathy Liver Diseases Overview Alcohol-Associated Liver Disease Autoimmune ...
    https://liverfoundation.org/.../hepatic-encephalopathy - Videos
  4. Leigh syndrome 
    ... family history of this condition. Infantile subacute necrotizing encephalopathy Juvenile subacute necrotizing encephalopathy Leigh disease Leigh's disease Subacute necrotizing encephalomyelopathy ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  5. Isolated sulfite oxidase deficiency 
    ... birth with signs and symptoms of brain dysfunction (encephalopathy) that quickly get worse. Babies with classic ISOD ... not show signs and symptoms of the condition. Encephalopathy due to sulfite oxidase deficiency ISOD Sulfocysteinuria Isolated ...
    https://medlineplus.gov/.../isolated-sulfite-oxidase-deficiency - Genetics
  6. Microcephaly, seizures, and developmental delay 
    ... signs and symptoms of the condition. EIEE10 Epileptic encephalopathy, early infantile, 10 MCSZ Genetic Testing Registry: Microcephaly, ... van de Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  7. TWNK gene 
    ... Lonnqvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain. 2007 Nov;130(Pt ... Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  8. Infantile-onset spinocerebellar ataxia 
    ... These seizures can lead to severe brain dysfunction (encephalopathy).Most people with IOSCA survive into adulthood. However, ... form of the disorder involving liver damage and encephalopathy that develops during early childhood. These children do ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  9. Combined oxidative phosphorylation deficiency 1 
    ... oxidative phosphorylation deficiency 1 have severe brain dysfunction (encephalopathy) that worsens over time; they also have difficulty ... Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. Front ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  10. 2-hydroxyglutaric aciduria 
    ... and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
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