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muscle-eye-brain disease (MEB)
Epidemiology:
- seen mainly in Finland
Pathology:
1) congenital muscular dystrophy
- muscle biopsies show dystrophic changes
2) retinal hypoplasia
3) brain malformation (type 2 lissencephaly)
- pachygyria
Genetics:
1) autosomal recessive
2) associated with defects in POMGNT1 gene
2) associated with defects in FKRP gene
Clinical manifestations:
1) severe congenital myopia
2) congenital glaucoma
3) pallor of the optic disks
4) mental retardation
5) hydrocephalus
6) myoclonic jerks
7) floppy with generalized muscle weakness from birth
8) phenotype overlap with Fukuyama-type congenital muscular & Walker-Warburg syndrome
Laboratory:
- increased serum creatine kinase
- POMGNT1 gene mutation
- FKRP gene mutation
Special laboratory:
- abnormal electroencephalograms
Radiology:
- brain magnetic resonance images demonstrate pachygyria-type cortical neuronal migration disorder, flat brainstem, cerebellar hypoplasia
Related
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
General
genetic syndrome (multisystem disorder)
congenital anomaly (birth defect)
Database Correlations
OMIM 253280
UniProt Q8WZA1
References
- UniProt :accession Q8WXG9
- OMIM :accession 253280