Congenital Insensitivity to Pain with Anhidrosis

Congenital Insensitivity to Pain with Anhidrosis [NTRK1]: Congenital insensivity to pain with anhidrosis, also known as hereditary sensory and autonomic neuropathy type IV, belongs to a group of rare autosomal recessive peripheral sensory neuropathies. Clinical features may include loss of pain sensation that leads to fractures, skin lacerations with complications such as infections and Charcot joints, moderate to severe mental retardation which when in combination with insensitivity to pain leads to self-mutilation or autoamputation, and anihidrosis that is often associated with recurrent episodes of unexplained fever that can be fatal.

Sephardic-Mizrahi Jewish Carrier Frequency: N/A