Congenital insensitivity to pain

Congenital insensitivity to pain

By: Dakota Foley

History and discovery information

- Reports of individuals who appeared insensitive to pain from birth onwards have a long history, but it was not until the 1930s that this condition attracted medical attention.

- Throughout the ages, two main terms have been conjured up to help narrow down the specifics of the disease

- Congenital insensitivity to pain(not to perceive sensations of pain) and Congenital indifference to pain (painful stimuli are perceived but there is an absence of the affective response to pain, rather than a lack of signal transmission)

-As soon as careful clinical assessments of congenital insensitivity to pain were made, attention was drawn to the role of nervous system lesions in explaining the phenomenon.

- Around 1960 Criteria was proposed

for congenital insensitivity to pain that excluded individuals with acquired lesions that could account for the clinical presentation

Causes and treatment

- There are some cases where the condition is caused by increased production of endorphins in the brain, in cases like these Naloxone may be used as treatment but is not always effective

- Other cases involve the voltage-gated sodium channel SCN9A (NaV1.7). Patients with such mutations are congenitally insensitive to pain and lack other neuropathies. There are three mutations in SCN9A: W897X, located in the P-loop of domain 2; I767X, located in the S2 segment of domain 2; and S459X, located in the linker region between domains 1 and 2. This results in a truncated non-functional protein.

- There is no know treatment for cases such as this, but treatments are being further researched and developed.

Name/ names

Origins

- This disease was said to have originated in Vittangi, a village in Kiruna Municipality in northern Sweden, where nearly 40 cases have been reported.

- The first diagnosed or reported case was in 1934

Other information and facts

- Children with this condition often suffer oral cavity damage both in and around the oral cavity (such as having bitten off the tip of their tongue) or fractures to bones.

- patients can still feel discriminative touch (though not always temperature), and there are no detectable physical abnormalities.

- The USA has only 35 diagnosed cases of CIP whereas Japan has over 300

- Most of the babies that carry this disease do not live past 3 years of age

- people often tend to develop ulcers, abrasions and many other injuries without knowing

pictures

- This disease has many names associated with it through out the years, though congenital insensitivity to pain is the most broadly used.

- Other names include congenital analgesia, congenital general pure analgesia, congenital universal insensitiveness to pain, congenital universal indifference to pain, and congenital absence of pain

Bibliography

M. Nagasako, Elna. "Congenital insensitivity to pain: an update." Pain 101. 2003.

"Congenital insensitivity to pain." Wikipedia. last modified on 19 December 2012 at 12:19. January 7, 2013. <http://en.wikipedia.org/wiki/Congenital_insensitivity_to_pain>

Benson, Beth. "The Facts About Congenital Insensitivity to Pain ." Yahoo voice. Aug 7, 2007. January 7, 2013.<http://voices.yahoo.com/the-facts-congenital-insensitivity-pain-with-478279.html>