/muscle-eye-brain disease

muscle-eye-brain disease

Rare Disease

MONDO:0018939

Also Known As

MEB syndromeSantavuori congenital muscular dystrophymuscle-eye-brain syndromemuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3MEBmuscle eye brain 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.