Juvenil nevronal ceroid lipofuscinose
Også kjent som: JNCL, barnedemens, Spielmeyer-Vogts sykdom
Engelsk navn: Juvenile neuronal ceroid lipofuscinosis
Engelske synonym: Batten disease,JNCL,Juvenile NCL,Spielmeyer-Vogt disease
Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 79264
Klassifiseringsnivå: DisorderICD-10: E75.4