Fukuyama Congenital Muscular Dystrophy
Definition
Fukuyama congenital muscular dystrophy (FCMD) is a rare genetic disorder characterized by progressive muscle weakness and degeneration, affecting skeletal muscles. It is caused by mutations in the FKTN gene, which leads to abnormal development of the brain and muscle tissues. Symptoms typically appear in early infancy and may include developmental delays, intellectual disabilities, and seizures.