Muscle eye brain disease - A case report of cognitive and behavioural features

Abstract

Presents a case report of a 27 year old man with muscle-eye-brain disease (MEB) and severe learning disability. MEB disease is a rare genetic disorder. It usually presents in the first 6 months of life with a combination of congenital muscular dystrophy, eye defects, and brain abnormalities. Although the main focus of the available literature is on the motor and visual impairment, change in the behaviour has been a main concern for the carers of this person with MEB. The case report presents details of the subject's motor development, eye manifestations, epilepsy, cognitive development, and behavior. (PsycINFO Database Record (c) 2016 APA, all rights reserved)