Fukuyama congenital muscular dystrophy

ABSTRACT

Muscular dystrophy is an inherited group of disorders that affects skeletal and many other systems. It is transferred to the next generations with autosomal recessive trait. Congenital muscular dystrophy is a rare disorder characterized by findings emerging from birth. There are 12 different forms of mutation according to defects. Fukuyama syndrome is a rare form of congenital muscular dystrophies in our country. There is FKTN gene mutation. Because it is a rare disease in Turkey, we find this case to be worthy of presentation. After the delivery, patients with recurrent convulsion and hypotonia were admitted to pediatric emergency department. Patients were diagnosed as Fukuyama congenital muscular dystrophy after evaluation based on clinical findings, imaging techniques and gene analysis. Congenital muscular dystrophy should be considered, whereas it is a group of disease in which hypotonia and recurrent convulsions are seen in early infancy period