Congenital insensitivity to pain

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Congenital insensitivity to pain
Video showing a person with congenital insensitivity to pain
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Inability to feel pain
Complications	Injury, burns, bone fractures
Onset	Birth
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Injury due to lack of pain sensation
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Congenital analgesia, Hereditary sensory and autonomic neuropathy
Prevention	N/A
Treatment	Protective measures, injury prevention
Medication	N/A
Prognosis	Varies depending on management of injuries
Frequency	Rare
Deaths	N/A

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

Introduction

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