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Results 1 - 10 of 17 for Progressive encephalopathy
  1. Tyrosine hydroxylase deficiency 
    ... Strassburg HM, Wevers RA. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol. 2003;54 ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  2. Asparagine synthetase deficiency 
    ... of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron. 2013 Oct 16;80(2):429-41. ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  3. MECP2-related severe neonatal encephalopathy 
    ... J, Kaufmann WE, Ravine D, Percy AK. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 2006 Jul ...
    https://medlineplus.gov/...p2-related-severe-neonatal-encephalopathy - Genetics
  4. Familial encephalopathy with neuroserpin inclusion bodies 
    ... inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized by a loss of intellectual ...
    https://medlineplus.gov/...lopathy-with-neuroserpin-inclusion-bodies - Genetics
  5. Horizontal gaze palsy with progressive scoliosis 
    ... of the condition. Familial horizontal gaze palsy with progressive scoliosis Familial idiopathic scoliosis associated with congenital encephalopathy Familial infantile scoliosis associated with bilateral paralysis of ...
    https://medlineplus.gov/...tal-gaze-palsy-with-progressive-scoliosis - Genetics
  6. Acute necrotizing encephalopathy type 1 
    ... bleeding (hemorrhage), and then tissue death (necrosis). The progressive brain damage and tissue loss results in encephalopathy.Approximately one-third of individuals with acute necrotizing ...
    https://medlineplus.gov/.../acute-necrotizing-encephalopathy-type-1 - Genetics
  7. 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
  8. 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
  9. 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
  10. 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
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