Walker-Warburg Syndrome, FKTN-related

Walker-Warburg syndrome (WWS), FKTN-related is an inherited disease characterized by muscle, brain, and eye abnormalities. It involves defects in the protein fukutin, which is believed to add chains of sugars to proteins involved in connecting the internal and external structure of cells, protecting muscle fibers, and development of the nervous system. The symptoms are due to abnormal cell structure and function, particularly in the brain, eyes, and muscles. WWS, FKTN-related is the most severe disease within a group of inherited muscle disorders known as alpha-dystroglycanopathies. WWS, FKTN-related is also known as muscular dystrophy-dystroglycanopathy, type A4. View testing options