Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

aligner
annoter
télécharger

Concept information

Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Basal Ganglia Diseases > Pantothenate Kinase-Associated Neurodegeneration
Nervous System Diseases > Central Nervous System Diseases > Movement Disorders > Pantothenate Kinase-Associated Neurodegeneration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Pantothenate Kinase-Associated Neurodegeneration
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Pantothenate Kinase-Associated Neurodegeneration
Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Neuroaxonal Dystrophies > Pantothenate Kinase-Associated Neurodegeneration

Terme préférentiel

Pantothenate Kinase-Associated Neurodegeneration  

Type

  • mesh:Descriptor

Définition

  • A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)

Concept générique

Synonyme(s)

  • Hallervorden-Spatz Disease
  • Hallervorden-Spatz Syndrome
  • Neuroaxonal Dystrophy, Juvenile-Onset
  • Neurodegeneration With Brain Iron Accumulation 1
  • Neurodegeneration with Brain Iron Accumulation Type 1
  • Pigmentary Pallidal Atrophy
  • Pigmentary Pallidal Degeneration
  • PKAN Neuroaxonal Dystrophy, Juvenile-Onset

Qualificatif(s) autorisé(s)

Traductions

  • Neurodégénérescence associée à la pantothénate kinase

    français

  • Dégénérescence pallidale pigmentaire
  • Dystrophie neuro-axonale tardive
  • Dystrophie neuroaxonale tardive
  • Maladie de Hallervorden-Spatz
  • Neurodégénerescence avec accumulation de fer dans le cerveau
  • Neuroferritinopathie
  • Syndrome de Hallervorden-Spatz

URI

http://data.loterre.fr/ark:/67375/JVR-VNH65KKH-P

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 08/07/2013