Congenital insensitivity to pain
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Congenital insensitivity to pain | |
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File:No pain. Science Museum Painless Exhibition Series.webm | |
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
References
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Contributors: Prab R. Tumpati, MD