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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Muscle eye brain disease


Other Names for this Disease
  • MEB
  • Muscle-eye-brain disease
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Your Question

My 3-year-old granddaughter has been diagnosed with muscle eye brain disease. Can you provide general information on this disease and what to expect in the future?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is muscle eye brain disease?

Muscle eye brain disease is a rare form of congenital muscular dystrophy.[1] 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. People with muscle eye brain disease frequently have additional eye abnormalities, hydrocephalus, and distinctive facial features. This condition is caused by mutations in gene a called POMGNT1, and it is inherited in an autosomal recessive pattern.[2] The signs and symptoms of this condition vary among affected individuals, even among members of the same family.[1]
Last updated: 7/21/2009

What causes muscle eye brain disease?

Muscle eye brain disease is caused by mutations in the POMGNT1 gene.[1] 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.[3] This protein is also found in the brain and spinal cord (central nervous system), eye, and other parts of the body. All of the reported mutations in the POMGNT1 gene result in a complete loss of function of the POMGNT1 protein.[1] The lack of functional POMGNT1 protein disrupts production of alpha dystroglycan.
Last updated: 7/21/2009

What is the prognosis for muscle eye brain disease?

The prognosis for muscle eye brain disease varies depending on the severity of the condition.[1] Most affected individuals develop severe vision loss.[4] While some people develop speech and the ability to walk, others are much more severely affected.[1] Life expectancy ranges from early childhood to about age 70.[5]
Last updated: 7/21/2009

References