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Congenital insensitivity to pain

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Title: Congenital insensitivity to pain  
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Subject: Pain, Channelopathy, Familial dysautonomia, Kimi no Kakera, Acute muscle soreness
Collection: Articles Containing Video Clips, Channelopathy, Congenital Disorders of Nervous System, Pain, Rare Diseases, Syndromes
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Congenital insensitivity to pain

Classification and external resources
OMIM 243000 147430
DiseasesDB 31214
MeSH D000699

Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more rare conditions in which a person cannot feel (and has never felt) physical pain. The conditions described here are separate from the HSAN group of disorders, which have more specific signs and etiology. Despite sounding beneficial, it is actually an extremely dangerous condition.


  • Presentation 1
  • Causes 2
  • Types of congenital pain indifference 3
  • Incidence 4
  • See also 5
  • References 6
  • External links 7


A patient and doctor discuss congenital insensitivity to pain

For patients with this disorder, cognition and sensation are otherwise normal; for instance, patients can still feel discriminative touch (though not always temperature[1]), and there are no detectable physical abnormalities.

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. Unnoticed infections and corneal damage due to foreign objects in the eye are also seen. Because the child cannot feel pain, they may not respond to problems, thus being at a higher risk of more severe diseases.


There are some cases where the condition is caused by increased production of endorphins in the brain, in which case naloxone may be used as treatment. This treatment does not always work.[2] In all cases, this disorder can be in 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. Nav1.7 channels are expressed at high levels in nociceptive neurons of the dorsal root ganglia. As these channels are likely involved in the formation and propagation of action potentials in such neurons, it is expected that a loss of function mutation in SCN9A will lead to abolished nociceptive pain propagation.[3]

PRDM12 gene is normally switched on during the development of pain-sensing nerve cells. People with homozygous mutations of the PRDM12 gene experience congenital insensitivity to pain (CIP).[4][5]

Developmental disabilities such as autism can include varying degrees of pain insensitivity as a sign. However, since these disorders are characterized by dysfunction of the sensory system in general, this specific condition is not in itself an indicator of any of these conditions.

Types of congenital pain indifference

There are generally two types of non-response exhibited.

  • Insensitivity to pain means that the painful stimulus is not even perceived: a patient cannot describe the intensity or type of pain.
  • Indifference to pain means that the patient can perceive the stimulus, but lacks an appropriate response: they will not flinch or withdraw when exposed to pain.


It is found in Vittangi, a village in Kiruna Municipality in northern Sweden, where nearly 40 cases have been reported. A few Americans also have it.[6]

See also


  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) Insensitivity to Pain, Congenital, with Anhidrosis; CIPA -256800
  2. ^ Manfredi M, Bini G, Cruccu G, Accornero N, Berardelli A, Medolago L (1981). "Congenital absence of pain". Arch Neurol 38 (8): 507–11.  
  3. ^ Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG (2006). "An SCN9A channelopathy causes congenital inability to experience pain". Nature 444 (7121): 894–8.  
  4. ^ Chen, YC; Auer-Grumbach, M; Matsukawa, S; Zitzelsberger, M; Themistocleous, AC; Strom, TM; Samara, C; Moore, AW; Cho, LT; Young, GT; Weiss, C; Schabhüttl, M; Stucka, R; Schmid, AB; Parman, Y; Graul-Neumann, L; Heinritz, W; Passarge, E; Watson, RM; Hertz, JM; Moog, U; Baumgartner, M; Valente, EM; Pereira, D; Restrepo, CM; Katona, I; Dusl, M; Stendel, C; Wieland, T; Stafford, F; Reimann, F; von Au, K; Finke, C; Willems, PJ; Nahorski, MS; Shaikh, SS; Carvalho, OP; Nicholas, AK; Karbani, G; McAleer, MA; Cilio, MR; McHugh, JC; Murphy, SM; Irvine, AD; Jensen, UB; Windhager, R; Weis, J; Bergmann, C; Rautenstrauss, B; Baets, J; De Jonghe, P; Reilly, MM; Kropatsch, R; Kurth, I; Chrast, R; Michiue, T; Bennett, DL; Woods, CG; Senderek, J (July 2015). "Transcriptional regulator PRDM12 is essential for human pain perception.". Nature genetics 47 (7): 803–8.  
  5. ^ Costandi, Mo. "Uncomfortably numb: The people who feel no pain". the guardian. the guardian. Retrieved 31 July 2015. 
  6. ^ Minde J (2006). "Norrbottnian congenital insensitivity to pain". Acta orthopaedica. Supplementum 77 (321): 2–32.  

External links

  • The Hazards of Growing Up Painlessly By JUSTIN HECKERT, New York Times, November 15, 2012. Profile of Ashlyn Blocker, 13, who has congenital insensitivity to pain.
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