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Muscle-eye-brain disease

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • MEB syndrome
    • Muscle-eye-brain syndrome
    • Santavuori congenital muscular dystrophy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.0
  • ICD-11: 8C70.6
  • OMIM: 236670  253280  253800  613150  613153  613154  615181  615350
  • UMLS: C0457133
  • MeSH: -
  • GARD: 156
  • MedDRA: -

Detailed information

General public

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.