Catalog

Muscle Eye Brain disease

No MMS code

Link to WHO Definition

Muscle Eye Brain disease – http://id.who.int/icd/entity/1330230975

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1, collectively known as dystroglycanopathies.