Familial episodic pain syndrome with predominantly lower limb involvement
Familial episodic pain syndrome with predominantly lower limb involvement
Definition
A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.
Also known as episodic pain syndrome, familial, type 3 — per MONDO