31 hours ago · Congenital indifference to pain is caused by a mutation in the SCN9A gene, which codes for the sodium channel Nav 1.7 protein. A multitude of mutations can occur at the SCN9A gene, and this may result in vastly different outcomes affecting sodium channel NaV1.7. The precise function of the NaV1.7 protein is unclear. >> Go To The Portal
Methods: Ophthalmologic examination and confocal microscopy were performed on a patient with congenital insensitivity to pain. Results: A 39-year-old man with compound heterozygous mutations in the SCN9A gene underwent examination.
Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene.
Autosomal recessive congenital insensitivity to pain (CIP) is a rare condition, affecting very few individuals, but with a worldwide distribution. CIP is clinically characterized by the ability to feel a given stimulus but also the inability to perceive pain.
Congenital insensitivity to pain is a rare disorder, first described in 1932 by Dearborn as Congenital pure analgesia. Congenital insensitivity to pain and anhydrosis (CIPA) is a very rare and extremely dangerous condition.
Frequency. Congenital insensitivity to pain is a rare condition; about 20 cases have been reported in the scientific literature.
CIPA is a very rare disease; there are only around 60 documented cases in the United States and around 300 worldwide (3). Since it is a genetic disease, CIPA is more likely to occur in homogeneous societies. While there may be very few reported cases, many studies have been done on these individuals.
Epidemiology. Congenital insensitivity to pain is found at an abnormally high frequency in Vittangi, a village in Kiruna Municipality in northern Sweden, where nearly 40 cases have been reported.
Betz has congenital insensitivity to pain, or CIP. It means he can place his hand in boiling water or undergo an operation without anaesthetic, and yet feel no discomfort whatsoever. In every other way, his sensory perceptions are normal.
CIPA is extremely dangerous, and in most cases the patient doesn't live over age of 25. Although some of them can live a fairly normal life, they must constantly check for cuts, bruises, self-mutilations, and other possible unfelt injuries.
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.
The cause of CIPA is attributed to mutations in the NTRK1 gene. Mutations in this gene lead to a loss of the sensory neurons, as well as the ability to feel pain. Diagnosis of CIPA is usually confirmed after a complete evaluation of infants with recurrent fevers, who frequently bite their tongue, fingers or lips.
The most definitive diagnostic test for CIPA is a genetic test. This can be done before birth or during childhood or adulthood. A genetic DNA test can identify an abnormality of the human TRKA (NTRKI) gene, confirming the diagnosis of CIPA.
Ashlyn Blocker is a young girl who has a rare genetic disease called CIP which stands for congenital insensitivity to pain. In other words, Ashlyn feels no pain. She has the inability to sense extreme temperatures of hot and cold.
Congenital insensitivity to pain is such a rare condition that only about 20 cases have been reported in the scientific literature. Many of these are the result of mutations in other genes, including one called SCN9A, which is involved in the transmission of electrical signals in the nerves.
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature, and prevents a person from sweating.
See also. Interesting to mention is the recent discovery of the existence of patients suffering from what has been defined Congenital Absence of Pain with Hyperhidrosis (also called Congenital analgesia with hyperhidrosis or Congenital indifference to pain with hyperhidrosis), pathology somewhat opposite to note CIPA.