Congenital insensitivity to pain

Congenital insensitivity to pain (CIP), also known as congenital analgesia, is a rare genetic disorder that inhibits the ability to perceive physical pain.

Overview

People with this condition can feel touch, but they cannot feel pain. This can lead to an accumulation of injuries and health issues over time. The condition is present from birth and is usually identified in infancy.

Causes

CIP is caused by mutations in the SCN9A gene. This gene provides instructions for making a protein that is critical for the normal function of nerves that transmit pain signals. Mutations in the SCN9A gene result in the production of a nonfunctional protein, which prevents these nerves from transmitting pain signals properly.

Symptoms

The primary symptom of CIP is an inability to feel pain. This can lead to a variety of complications, including frequent injuries, burns, and bruises. Individuals with CIP may also have a reduced sense of smell (anosmia).

Diagnosis

Diagnosis of CIP is based on the clinical symptoms and confirmed by genetic testing. The genetic testing can identify mutations in the SCN9A gene.

Treatment

There is currently no cure for CIP. Treatment is focused on managing the symptoms and preventing injuries. This may include regular check-ups, use of protective gear, and education about the condition.

See also

• Pain
• Genetic disorder
• SCN9A
• Anosmia

References

Congenital insensitivity to pain Resources
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