Muscular dystrophy-dystroglycanopathy (FKTN-related) is a disorder that causes proteins to develop abnormally.
Symptoms include abnormalities in the structures of the brain and eye, profound intellectual disability, and progressive muscle weakness, especially in the limbs but sometimes in the heart and lungs. Affected individuals may also experience seizures. Symptoms are typically present at birth.
This condition is caused by pathogenic (disease-causing) variants in the FKTN gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 80 chance to be a carrier. Carriers typically do not experience any symptoms.
Other names for this condition include Walker-Warburg syndrome, limb girdle muscular dystrophy type 2M, Fukuyama congenital muscular dystrophy/muscle-eye-brain disease, and FKTN-related dystrophies.
Resources:
National Organization for Rare Disorders (NORD)
Revised July 2022
