FKTN-Related Walker-Warburg Syndrome
What Your Test Results Mean:
Carriers typically show no symptoms of FKTN-related WWS; however, carriers are at an increased risk of having a child with FKTN-related WWS. Risk for current or future pregnancies is dependent on your partner’s carrier status.
Walker-Warburg syndrome is the most severe congenital muscular dystrophy. FKTN-related WWS is characterized by brain malformations and eye abnormalities, hypotonia, muscle weakness, developmental delay, and occasional seizures. Individuals with FKTN-related WWS are not able to properly produce the protein fukutin. Without fukutin, another protein called alpha-dystroglycan, essential for the development of muscle fibers and neural cells, cannot function properly, leading to the severe symptoms of the disease. FKTN-related WWS is typically lethal within the first few months of life.
Treatment of individuals with FKTN-related WWS typically includes supportive care. Most individuals do not live beyond the age of three.
How the Genetics Works:
There are several genes known to cause Walker-Warburg syndrome. The clinical features of FKTN-related WWS can be explained by pathogenic variants in the FKTN gene. In general, individuals have two copies of the FKTN gene. Carriers of FKTN-related WWS have a single variant in one copy of the FKTN gene while individuals with FKTN-related WWS have variants in both copies of their genes, one inherited from each parent.
Talk to a Genetic Counselor
As a Clarity client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, click the link below or call(866) 661-7966Discuss Your Screening Results