Muscle eye brain disease

What causes muscle eye brain disease (MEB)?

MEB is caused by mutations in the POMGNT1 gene. This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contraction and relaxation. This protein is also found in the brain and spinal cord (central nervous system), eye, and other parts of the body.

Last updated on 05-01-20

What is the long-term outlook for muscle eye brain disease (MEB)?

The prognosis for MEB varies depending on the severity of the condition. Some individuals only experience congenital muscular dystrophy; however, most additionally have severe vision loss and intellectual disability.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Free full text article - Muscle Eye Brain Disease

Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct;41(10):e115.

Last updated on 04-27-20

Name: Cure CMD - Congenital Muscular Dystrophy 19401 S. Vermont Ave., Suite J100
Torrance, CA, 90502, United States
Phone: 323-250-2399 or 424-265-0874 Email: Url:
Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States
Toll Free: 1-833-275-6321 (Helpline) Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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