muscle-eye-brain disease (MEB)

Epidemiology

• seen mainly in Finland

Pathology

• congenital muscular dystrophy
  • muscle biopsies show dystrophic changes
• retinal hypoplasia
• brain malformation (type 2 lissencephaly)
  • pachygyria

Genetics

• autosomal recessive
• associated with defects in POMGNT1 gene
• associated with defects in FKRP gene

Clinical manifestations

• severe congenital myopia
• congenital glaucoma
• pallor of the optic disks
• mental retardation
• hydrocephalus
• myoclonic jerks
• floppy with generalized muscle weakness from birth
• phenotype overlap with Fukuyama-type congenital muscular & Walker-Warburg syndrome

Laboratory

• increased serum creatine kinase
• POMGNT1 gene mutation
• FKRP gene mutation

Diagnostic procedures

• abnormal electroencephalograms

Radiology

• brain magnetic resonance images demonstrate pachygyria-type cortical neuronal migration disorder, flat brainstem, cerebellar hypoplasia

More general terms

• genetic syndrome (multisystem disorder)
• congenital anomaly (birth defect)

Additional terms

• Fukuyama congenital muscular dystrophy (FCMD); Walker-Warburg syndrome FKTN-related
• protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; POMGnT1; UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2; GnT I.2 (POMGNT1, MGAT12, UNQ746/PRO1475)
• Walker-Warburg syndrome; hydrocephalus, agyria & retinal dysplasia; Hard syndrome; Chemke syndrome; Pagon syndrome; cerebroocular dysplasia-muscular dystrophy syndrome

Database

• OMIM: https://mirror.omim.org/entry/253280