Undergrad Rounds: Congenital Insensitivity to Pain

Congenital Insensitivity to Pain

The rare genetic disorder that is characterized by the inability to feel physical pain. High risk of death when young

Congenital Insensitivity to Pain with Anhidrosis

The form of congenital insensitivity to pain where individuals cannot sweat. 20% of deaths occur within the first year due to the inability to regulate their temperature.

Developmental mutation types

The types of mutations that affect C fibers and Aδ fibers and the NGF-TRKA pathway.

Functional mutation types

The types of mutations that affect sodium channels and are endogenous opioid controlled. 

Treatment

No current cure, but gene therapy, such as stem cell therapy, has been tested. Treatment mainly involves routine checks and safety precautions to ensure no damage is being done.