What is Walker-Warburg syndrome

Walker-Warburg syndrome is a rare and severe genetic disorder that primarily affects the development of the brain and muscles. It falls under a group of conditions known as congenital muscular dystrophies. Individuals with this syndrome typically experience a range of symptoms, including brain abnormalities, muscle weakness, and eye defects.

The brain abnormalities associated with Walker-Warburg syndrome often include a smooth brain surface (lissencephaly), a small brain cavity (ventriculomegaly), and an underdeveloped cerebellum. These structural issues can lead to developmental delays, intellectual disabilities, and seizures.

Muscle weakness is a common feature of Walker-Warburg syndrome. It can affect various muscle groups, resulting in difficulties with movement, muscle tone, and coordination. Some individuals may experience joint stiffness or contractures.

Eye defects are another characteristic of this syndrome. These can include severe nearsightedness (myopia), clouding of the lenses (cataracts), and abnormalities in the retina. Vision impairment or blindness may occur.

Walker-Warburg syndrome is typically diagnosed through clinical evaluations, brain imaging, genetic testing, and muscle biopsies. Unfortunately, there is currently no cure for this condition. Treatment mainly focuses on managing symptoms and providing supportive care to improve quality of life.