Muscle-eye-brain disease

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.

Also known as: MEB syndrome, Santavuori congenital muscular dystrophy, muscle-eye-brain syndrome, muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3, MEB, muscle eye brain disease

5 clinical trials for this condition and its sub-types, 0 tagged with Muscle-eye-brain disease itself.