Muscular dystrophy-dystroglycanopathy is an inherited disorder that causes breakdown in muscles used in movement as well as muscles in the brain and heart.
Symptoms include muscle weakness, brain abnormalities, and intellectual disability. In rare cases, an abnormal FKRP gene is associated with muscle eye brain disease.
This condition is caused by pathogenic (disease-causing) variants in the FKRP 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. Carriers typically do not experience any symptoms.
Other names for this condition include FKRP-related conditions and limb-girdle muscular dystrophy R9.