Walker-Warburg syndrome

Overview

What is Walker-Warburg syndrome?

Walker-Warburg syndrome (WWS) is a very rare and severe congenital muscular dystrophy that affects the brain, eyes and muscles. WWS belongs to a group of conditions known as dystroglycanopathies. Signs and symptoms of the condition are typically present before birth or very shortly afterward. Typical features of WWS include a smooth, "cobblestone" appearance to the brain surface, muscle wasting, and eye abnormalities leading to vision loss. Unfortunately, there is no cure for WWS and there is no definitive treatment for this condition. Certain therapies, however, may improve the quality of life and prolong life expectancy for affected individuals. Nonetheless, regardless of the therapies undertaken, affected individuals typically pass away in early childhood, around the age of 3.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/walker-warburg-syndrome/overview/60010 • DATE UPDATED: 2016-10-20

References

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