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.
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
- 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.