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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 mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.

ORPHA:588

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: Q04.3
  • OMIM: 236670  253280  253800  613150  613153  613154  615181  615350
  • UMLS: C0457133
  • MeSH: -
  • GARD: 156
  • MedDRA: -
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