Congenital insensitivity to pain

Other Names: Channelopathy-associated CIP, Channelopathy-associated congenital insensitivity to pain See more

Categories: Congenital and Genetic Diseases, Nervous System Diseases

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Description

Congenital insensitivity to pain is a condition, present from birth, that inhibits the ability to perceive physical pain. Affected individuals are unable to feel pain in any part of their body. Over time, this lack of pain awareness can lead to an accumulation of injuries and health issues that may affect life expectancy. 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.

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. It is part of a group known as hereditary sensory and autonomic neuropathies.

Source: GARD Last updated on 05-01-20

Symptoms

What are the signs and symptoms of congenital insensitivity to pain?

Congenital insensitivity to pain is characterized by the inability to perceive physical pain. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue. This condition, which is present from birth, can lead to an accumulation of wounds, bruises, broken bones, and other health issues that may go undetected over time and can lead to a reduction in life expectancy. Young children with congenital insensitivity to pain may have mouth or finger wounds due to self-biting and may also experience multiple burn-related injuries. Many people with this condition also have a complete loss of the sense of smell (anosmia). In cases of congenital insensitivity to pain caused by mutations in the PRDM12 gene, the patients have a normal sense of smell, predisposition to infections and a greater incidence of corneal abrasions due to a lack of tear production.

Visit the following link to access a table which outlines the different body systems affected by this condition.
http://www.omim.org/clinicalSynopsis/243000

Last updated on 05-01-20

Symptoms and their Known Frequencies

We're currently performing maintenance on our symptoms information from GARD. Please check back at a later time for updates.

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