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
Definisjon
A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.
Fra Orphanet
ORPHA: 79264
Klassifiseringsnivå: Disorder
ICD-10: E75.4