Nevrodegenerativ jernavleiringssykdom
Også kjent som: NBIA, Neurodegeneration with Brain Iron Accumulation
Engelsk navn: Neurodegeneration with brain iron accumulation
Engelske synonym: NBIA
Definisjon
Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.
Fra Orphanet
ORPHA: 385
Klassifiseringsnivå: Group of disorders
ICD-10: