Muscle eye brain disease

Disease Overview

Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth (congenital muscular dystrophy).[12579][12580] Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability, a buildup of fluid in the brain (hydrocephalus), and distinctive facial features. This condition is caused by mutations in the POMGNT1 gene and is inherited in an autosomal recessive manner.[1436][12579] Although there is no specific treatment or cure for MEB, there are ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.

Synonyms

• MEB
• Muscle-eye-brain disease
• Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3