What type of mutation causes congenital insensitivity to pain?
Congenital insensitivity to pain is caused by mutations in the SCN9A gene and, in rare cases, is caused by mutations in the PMRD12 gene. It is inherited in an autosomal recessive pattern.
What chromosome does congenital insensitivity to pain affect?
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare condition caused by mutation of the TrkA (NTRK1) gene on the 1q 21-22 chromosome,38 characterized by mental retardation; congenital analgesia that leads to self-mutilation, multiple scars, and fractures; and anhidrosis with repeated bouts of fever.
What is CIP disease?
Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV.
What is it called when someone doesn’t feel pain?
Congenital insensitivity to pain and anhydrosis (CIPA) is a very rare and extremely dangerous condition. People with CIPA cannot feel pain [1]. Pain-sensing nerves in these patients are not properly connected in parts of brain that receive the pain messages.
Is congenital insensitivity to pain a genetic disease?
Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene.
How does congenital insensitivity to pain work?
Overview. Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.
How common is congenital insensitivity to pain?
Congenital insensitivity to pain and anhidrosis (CIPA) or HSAN type IV is an extremely rare autosomal recessive disorder initially described by Swanson in 1963 (2). The incidence of this disorder has been estimated to be 1 in 25, 000 population (3).
Is congenital insensitivity to pain good?
Because feeling physical pain is vital for survival, CIP is an extremely dangerous condition. It is common for people with the condition to die in childhood due to injuries or illnesses going unnoticed.
How is congenital insensitivity to pain treated?
There is still no cure for CIPA. Treatment is aimed at controlling body temperature, preventing self-injury, and treating orthopedic problems, as soon as possible. It is very important to control the body temperature during surgery.
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