Muscle-eye-brain disease

Muscle-eye-brain disease, abbreviated MEB and also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3), is a rare kind of congenital muscular dystrophy that is largely characterized by hypotonia at birth. Patients have muscular dystrophy together with abnormalities of the central nervous system and of the eyes, and the condition is degenerative. It is caused by mutations in the POMGnT1 gene and is inherited as an autosomal recessive disorder. There is no cure. Supportive care focuses mainly on easing symptoms, which varies between clinical settings, and symptomatic treatment may include physiological and occupational therapies, medications and surgeries. Life expectancy is given as 10 to 30 years, although some patients have lived longer.