Can congenital insensitivity to pain be inherited?
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.
Can CIPA be inherited?
CIPA is a hereditary disease. It is autosomal recessive, which means that any person who has CIPA must inherit the gene from both parents. 1 Typically, the parents of an affected child carry the gene but do not have the disease if they only inherited the gene from one parent.
What are the genetics behind CIPA?
CIPA is caused by a mutation in NTRK1, a gene encoding the neurotrophic tyrosine kinase receptor. NTRK1 is a receptor for nerve growth factor (NGF). This protein induces outgrowth of axons and dendrites and promotes the survival of embryonic sensory and sympathetic neurons.
Is there genetic testing for congenital insensitivity to pain?
The diagnosis of NTRK1 congenital insensitivity to pain with anhidrosis (NTRK1-CIPA) is established in a proband with biallelic pathogenic variants in NTRK1 identified by molecular genetic testing (see Table 1).
Who has congenital insensitivity to pain?
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.
What are symptoms of congenital insensitivity to pain?
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.
How do you treat congenital insensitivity to pain?
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.
What are the symptoms of congenital insensitivity to pain?
The main signs of CIPA include being unable to feel pain or temperature, being unable to sweat, and intellectual disability. The sense of touch and vibration is not affected. The inability to feel pain can result in accidental self-injury and the inability to sweat can result in high fevers (hyperpyrexia) and seizures.
How long do kids with CIPA live?
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.
Is there a cure for CIPA?
How do you get congenital insensitivity to pain?
Inheritance. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
When is congenital insensitivity to pain diagnosed?
Establishing the Clinical Diagnosis of Congenital Insensitivity to Pain. There are no consensus clinical diagnostic criteria for CIP. However, a diagnosis requires visible proof of lack of nociception in a conscious individual of normal intellectual ability.
What does congenital insensitivity to pain mean?
Here are all the possible meanings and translations of the word congenital insensitivity to pain. A rare inborn disorder, the sufferers of which can not feel pain. Congenital insensitivity to pain, also known as congenital analgesia, is one or more rare conditions where a person cannot feel physical pain.
Who discovered congenital insensitivity to 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. People with CIPA cannot feel pain .
What causes congenital analgesia?
What causes congenital analgesia? 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 causes CIPA disease?
Consequences of a pain-free lifestyle. To those of us who feel pain every day,the notion of a painless existence is perhaps initially appealing.