Niemann‑Pick disease type C
Også kjent som: NiemanPick sykdom type C
Engelsk navn: Niemann-Pick disease type C
Definisjon
A rare lysosomal lipid storage disease characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.
Fra Orphanet
ORPHA: 646
Klassifiseringsnivå: Disorder
ICD-10: E75.2
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
