Infantil nevroaxonal dystrofi
Også kjent som: INAD, Seitelbergers sykdom
Engelsk navn: Infantile neuroaxonal dystrophy
Engelske synonym: INAD,INAD1,PLAN,Phospholipase A2-associated neurodegeneration,Seitelberger disease
Definisjon
Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.
Fra Orphanet
ORPHA: 35069
Klassifiseringsnivå: Disorder
ICD-10: G23.0
Mer informasjon
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