Muskel-øye-hjerne sykdom (MEB)
Også kjent som: Muscle-eye-brain disease
Engelsk navn: Muscle-eye-brain disease
Engelske synonym: MEB syndrome,Muscle-eye-brain syndrome,Santavuori congenital muscular dystrophy
Definisjon
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe intellectual disability and typical brain and eye malformations including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. A broad clinical spectrum is observed with variable involvement of each organ system.
Fra Orphanet
ORPHA: 588
Klassifiseringsnivå: Disorder
ICD-10: G71.0
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
