Parents

PLAN is a rare autosomal recessive disorder caused by mutations in the PLA2G6 gene. The incidence of PLAN is 1-2 per million. It is comprised of three types:  infantile, juvenile and adult PLAN. PLAN is characterized by swelling and degeneration of individual nerve endings in the central nervous system as well as peripheral nerves and terminals. Common symptoms include difficulty with muscle control, eye issues and cognitive decline.