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Muscle-eye-brain disease, a part of the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3), is a congenital muscular dystrophy with associated progressive eye and brain abnormalities.
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There is severe intellectual disability, in combination with seizures. Motor development is usually severely delayed. Eye abnormalities include choroidal hypoplasia, retinal degeneration, optic nerve hypoplasia, severe myopia and glaucoma.
Muscle-eye-brain disease is caused by a fault in O-mannosyl glycan synthesis.
It is an inherited autosomal recessive disease with marked phenotypic variability. The founder mutation is in the Finnish population (POMGNT1 mutations are most common).
- cerebral hemispheres
- diffuse cerebral cortical dysplasias: pachygyria, polymicrogyria or agyria +/- cysts
- high T2 signal cerebral white matter signal reflecting patchy hypomyelination
- midline structures
- infratentorial structures
- cerebellar polymicrogyria +/- multiple subcortical cerebellar cysts
- cerebellar vermian and pontine hypoplasia
- malformed tectal plate, fused midbrain superior and inferior colliculi
Treatment and prognosis
No curative treatment is available. Management is supportive.
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