How is congenital insensitivity to pain (CIP) formally diagnosed?

Diagnosis combines a detailed clinical history (absence of pain responses since birth) with neurological examination, quantitative sensory testing, and nerve‑conduction studies that are typically normal. Genetic testing for known channelopathy genes (most commonly SCN9A, SCN11A, or SCN10A) confirms the diagnosis when a pathogenic variant is identified.

Is there any therapy that can restore pain sensation in people with CIP?

Currently, no medication or surgical approach reliably restores nociception in channelopathy‑related CIP. Management focuses on injury prevention, early detection of trauma, and multidisciplinary support (physical therapy, occupational therapy, and psychosocial counseling).

Why do many individuals with CIP also lose their sense of smell, and should I expect other sensory problems?

The same sodium‑channel mutations that block pain fibers often affect olfactory neurons, leading to congenital anosmia. Some patients may also have subtle autonomic dysfunction (e.g., abnormal sweating). Regular ENT evaluation and monitoring for temperature regulation issues are advisable.

What daily safety measures should parents use to protect a child who cannot feel pain?

Routine skin inspections (at least twice daily) for burns, cuts, or pressure marks are essential. Use temperature‑controlled devices (e.g., lukewarm water for baths), protective clothing, padded footwear, and bite‑guards. Teach the child to report “unusual” sensations such as heat, pressure, or swelling even if they don’t feel pain.

Channelopathy-associated congenital insensitivity to pain

Channelopathy-associated congenital insensitivity to pain is a rare genetic disorder that prevents individuals from feeling physical pain, increasing the risk of injuries and complications.

Overview

Channelopathy-associated congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but they cannot sense, for example, that a hot beverage is burning their tongue. Pain is a vital signal that helps people avoid danger and injuries. People who cannot feel pain experience more injuries and may have shorter life expectancies.

The first signs of channelopathy-associated congenital insensitivity to pain often occur when an infant shows no response to stimuli such as an injury or medical procedures like vaccines. Young children with this condition may have wounds from biting or burning themselves.

A lack of pain awareness often leads individuals to develop wounds, bruises, broken bones, and other health issues that may go undetected. Long lasting joint injuries (often occurring alongside broken bones) can lead to joint deformities and often the loss of normal use of that body part. Eye injuries that go unnoticed can lead to vision loss. Many people with channelopathy-associated congenital insensitivity to pain also have a complete loss of anosmia.

Channelopathy-associated 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.

Frequency

Channelopathy-associated congenital insensitivity to pain is a rare condition, though its exact prevalence is unknown. It is one of about 10 disorders characterized by a lifelong inability to sense physical pain.

Causes

Variants (also called mutations) in the SCN9A gene cause channelopathy-associated congenital insensitivity to pain. The SCN9A gene provides instructions for making one part (the alpha subunit) of a NaV1.7 sodium channel. Sodium channels create an opening in the cell membrane to transport positively charged sodium atoms (sodium ions) into cells. Sodium ion transport play a key role in a cell's ability to generate and transmit electrical signals.

NaV1.7 sodium channels are found in nerve cells called nociceptors. These cells transmit pain signals to the spinal cord and brain; this pain signaling is known as nociception. The NaV1.7 sodium channel is also found in olfactory sensory neurons, which are nerve cells in the nasal cavity that transmit smell-related signals to the brain.

Certain variants in the SCN9A gene can cause cells to produce alpha subunits that do not work normally. These nonfunctional subunits do not allow NaV1.7 sodium channels to open, preventing the flow of sodium ions into nociceptors. This lack of sodium ions blocks nociceptors from transmitting pain signals from the site of an injury to the brain. The loss of NaV1.7 sodium channel activity in olfactory sensory neurons similarly likely prevents smell-related signals from reaching the brain, leading to anosmia.

Learn more about the gene associated with Channelopathy-associated congenital insensitivity to pain

SCN9A

Inheritance

This condition is inherited in an autosomal recessive manner, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

Asymbolia for pain
Channelopathy-associated insensitivity to pain
CIP
CIP-SCN9A
Congenital analgesia
Congenital indifference to pain
Congenital pain indifference
Indifference to pain, congenital, autosomal recessive
Pain insensitivity, congenital

Additional Information & Resources

Genetic Testing Information

Genetic Testing Registry: Channelopathy-associated congenital insensitivity to pain, autosomal recessive

Genetic and Rare Diseases Information Center

Congenital insensitivity to pain-anosmia-neuropathic arthropathy

Patient Support and Advocacy Resources

National Organization for Rare Disorders (NORD)

Clinical Trials

ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Scientific Articles on PubMed

PubMed

References

Dabby R. Pain disorders and erythromelalgia caused by voltage-gated sodium channel mutations. Curr Neurol Neurosci Rep. 2012 Feb;12(1):76-83. doi: 10.1007/s11910-011-0233-8. Citation on PubMed
Drissi I, Woods WA, Woods CG. Understanding the genetic basis of congenital insensitivity to pain. Br Med Bull. 2020 May 15;133(1):65-78. doi: 10.1093/bmb/ldaa003. Citation on PubMed
Fischer TZ, Waxman SG. Familial pain syndromes from mutations of the NaV1.7 sodium channel. Ann N Y Acad Sci. 2010 Jan;1184:196-207. doi: 10.1111/j.1749-6632.2009.05110.x. Citation on PubMed
Lampert A, O'Reilly AO, Reeh P, Leffler A. Sodium channelopathies and pain. Pflugers Arch. 2010 Jul;460(2):249-63. doi: 10.1007/s00424-009-0779-3. Epub 2010 Jan 26. Citation on PubMed
Zufall F, Pyrski M, Weiss J, Leinders-Zufall T. Link between pain and olfaction in an inherited sodium channelopathy. Arch Neurol. 2012 Sep;69(9):1119-23. doi: 10.1001/archneurol.2012.21. Citation on PubMed

Medical Encyclopedia

Genetics
Smell - impaired

Understanding Genetics

What is the prognosis of a genetic condition?
How can gene variants affect health and development?
What does it mean if a disorder seems to run in my family?
What are the different ways a genetic condition can be inherited?
How are genetic conditions treated or managed?