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Pantothenate kinase-associated neurodegeneration

Disease definition

Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.

ORPHA:157850

  • Synonym(s):
    • Hallervorden-Spatz syndrome
    • NBIA1
    • Neurodegeneration with brain iron accumulation type 1
    • PKAN
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: G23.0
  • OMIM: 234200
  • UMLS: C0018523
  • MeSH: D006211
  • GARD: 6564
  • MedDRA: -

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