Congenital insensitivity to pain - wikipedia Congenital insensitivity to pain Congenital insensitivity to pain Synonyms Image = ( edit on Wikidata ) Congenital insensitivity to pain ( CIP ), also known as congenital analgesia, is one or more rare conditions in which a person can not 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 cause. Because feeling physical pain is vital for survival, CIP is an extremely dangerous condition. It is common for people with the condition to die in childhood due to injuries or illnesses going unnoticed. Burn injuries are one of the more common injuries. Contents 1 Signs and symptoms 2 Causes 3 Treatment 4 Epidemiology 5 Popular culture 6 See also 7 References 8 External links Signs and symptoms Play media A patient and doctor discuss congenital insensitivity to pain For people with this disorder, cognition and sensation are otherwise normal ; for instance, patients can still feel discriminative touch ( though not always temperature ), and there are generally no detectable physical abnormalities. Because children with the disorder can not feel pain, they may not respond to problems, thus being at a higher risk of more severe diseases. 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. There are generally two types of non-response exhibited : Insensitivity to pain means that the painful stimulus is not even perceived : a patient can not describe the intensity or type of pain. Indifference to pain means that the patient can perceive the stimulus, but lacks an appropriate response : they do not flinch or withdraw when exposed to pain. Causes It may be that the condition is caused by increased production of endorphins in the brain, in which case naloxone may be a treatment, but does not always work. In all cases, this disorder can be in the voltage - gated sodium channel SCN9A ( Na 1.7 ). 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. Na 1.7 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 leads to abolished nociceptive pain propagation. 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 ). 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. Treatment The opioid antagonist naloxone allowed a woman with congenital insensitivity to pain to experience it for the first time. Similar effects were observed in Na 1.7 null mice treated with naloxone. As such, opioid antagonists like naloxone and naltrexone may be effective in treating the condition. Epidemiology Congenital insensitivity to pain 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. Popular culture In the Millennium series by Swedish author Stieg Larsson, the character Ronald Niedermann is presented as suffering from the condition, rendering him an overtly stereotypical henchman, which includes precipitating several plot devices in the series. The disorder has been portrayed in television shows and video games. In the season 3 episode of House M.D., `` Insensitive '', they treat a patient with the condition. In the Japanese anime and BL game, DRAMAtical Murder, a supporting character named Noiz suffers from this disorder. When he was younger, his parents considered him a disgrace because he would play rough with other children because he did n't understand what pain felt like. The only pain he could feel was from his tongue. In season 3 of the TV - series Perception episode `` Painless '', there is a crime involving someone with the condition. In Act I, Scene III `` This Hurts '' of the Off - Broadway play Almost, Maine, the character Steve suffers from this disease. His brother Paul teaches him what is supposed to hurt, which he writes in a book. After he falls in love Steve gains the ability to feel pain. In season 3 of Grey 's Anatomy episode `` Sometimes a fantasy '', Dr. Alex Karev was treating a young girl with this condition. In the 2008 video game Dark Sector, protagonist Hayden Tenno suffers from this condition. This becomes a plot point when he is infected by a virus that drives most people insane due to the severe pain it causes in victims, which he is unable to feel. See also Hereditary sensory and autonomic neuropathy Familial dysautonomia Congenital insensitivity to pain with anhidrosis Hypoalgesia Pain asymbolia References ^ Jump up to : Steven Linton ( 2005 ). Understanding Pain for Better Clinical Practice : A Psychological Perspective. Elsevier Health Sciences. p. 14. ISBN 0444515917. Retrieved April 13, 2017. ^ Jump up to : Jennifer L. Hellier ( 2016 ). The Five Senses and Beyond : The Encyclopedia of Perception. ABC - CLIO. pp. 118 -- 119. ISBN 1440834172. Retrieved April 13, 2017. Jump up ^ Online Mendelian Inheritance in Man ( OMIM ) Insensitivity to Pain, Congenital, with Anhidrosis ; CIPA - 256800 ^ Jump up to : Michael C. Brodsky ( 2016 ). Pediatric Neuro - Ophthalmology. Springer. p. 741. ISBN 1493933841. Retrieved April 13, 2017. Jump up ^ Manfredi M, Bini G, Cruccu G, Accornero N, Berardelli A, Medolago L ( 1981 ). `` Congenital absence of pain ''. Arch Neurol. 38 ( 8 ) : 507 -- 11. doi : 10.1001 / archneur. 1981.00510080069010. PMID 6166287. Jump up ^ 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. doi : 10.1038 / nature05413. PMID 17167479. Jump up ^ 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. doi : 10.1038 / ng. 3308. PMID 26005867. Jump up ^ Costandi, Mo. `` Uncomfortably numb : The people who feel no pain ''. the guardian. the guardian. Retrieved 31 July 2015. Jump up ^ Wolraich, Mark ( 2008 ). Developmental - behavioral Pediatrics : Evidence and Practice. Elsevier Health Sciences. p. 399. ISBN 9780323040259. ^ Jump up to : Minett, Michael S. ; Pereira, Vanessa ; Sikandar, Shafaq ; Matsuyama, Ayako ; Lolignier, Stéphane ; Kanellopoulos, Alexandros H. ; Mancini, Flavia ; Iannetti, Gian D. ; Bogdanov, Yury D. ; Santana - Varela, Sonia ; Millet, Queensta ; Baskozos, Giorgios ; MacAllister, Raymond ; Cox, James J. ; Zhao, Jing ; Wood, John N. ( 2015 ). `` Endogenous opioids contribute to insensitivity to pain in humans and mice lacking sodium channel Nav1. 7 ''. Nature Communications. 6 : 8967. doi : 10.1038 / ncomms9967. ISSN 2041 - 1723. PMC 4686868. PMID 26634308. Jump up ^ Minde J ( 2006 ). `` Norrbottnian congenital insensitivity to pain ''. Acta Orthopaedica Supplementum. 77 ( 321 ) : 2 -- 32. PMID 16768023. External links Classification V T D OMIM : 243000 147430 MeSH : D000699 DiseasesDB : 31214 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. Pain and nociception By region / system HEENT Headache Neck Odynophagia ( swallowing ) Toothache Respiratory system Sore throat Pleurodynia Musculoskeletal Arthralgia ( joint ) Bone pain Myalgia ( muscle ) Muscle soreness : Acute / Delayed onset Neurologic Congenital insensitivity to pain HSAN Type I II congenital sensory neuropathy III familial dysautonomia IV congenital insensitivity to pain with anhidrosis V congenital insensitivity to pain with partial anhidrosis Neuralgia Pain asymbolia Pain disorder Paroxysmal extreme pain disorder Allodynia Chronic pain Hyperalgesia Hypoalgesia Hyperpathia Phantom pain Referred pain Other Pelvic pain Proctalgia Back Low back pain ( LBP ) Tests Cold pressor test Dolorimeter Grimace scale ( animals ) Hot plate test Tail flick test Related concepts Anterolateral system Pain management Anesthesia Cordotomy Pain scale Pain threshold Pain tolerance Posteromarginal nucleus Substance P Suffering OPQRST Philosophy of pain Cancer pain Drug - seeking behavior Diseases of ion channels Calcium channel Voltage - gated CACNA1A Familial hemiplegic migraine 1 Episodic ataxia 2 Spinocerebellar ataxia type - 6 CACNA1C Timothy syndrome Brugada syndrome 3 Long QT syndrome 8 CACNA1F Ocular albinism 2 CSNB2A CACNA1S Hypokalemic periodic paralysis 1 Thyrotoxic periodic paralysis 1 CACNB2 Brugada syndrome 4 Ligand gated RYR1 Malignant hyperthermia Central core disease RYR2 CPVT1 ARVD2 Sodium channel Voltage - gated SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium - aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain Constitutively active SCNN1B / SCNN1G Liddle 's syndrome SCNN1A / SCNN1B / SCNN1G Pseudohypoaldosteronism 1AR Potassium channel Voltage - gated KCNA1 Episodic ataxia 1 KCNA5 Familial atrial fibrillation 7 KCNC3 Spinocerebellar ataxia type - 13 KCNE1 Jervell and Lange - Nielsen syndrome Long QT syndrome 5 KCNE2 Long QT syndrome 6 KCNE3 Brugada syndrome 5 KCNH2 Short QT syndrome KCNQ1 Jervell and Lange - Nielsen syndrome Romano -- Ward syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1 Inward - rectifier KCNJ1 Bartter syndrome 2 KCNJ2 Andersen -- Tawil syndrome Long QT syndrome 7 Short QT syndrome ) KCNJ11 TNDM3 KCNJ18 Thyrotoxic periodic paralysis 2 Chloride channel CFTR Cystic fibrosis Congenital absence of the vas deferens CLCN1 Thomsen disease Myotonia congenita CLCN5 Dent 's disease CLCN7 Osteopetrosis A2, B4 BEST1 Vitelliform macular dystrophy CLCNKB Bartter syndrome 3 TRP channel TRPC6 FSGS2 TRPML1 Mucolipidosis type IV Connexin GJA1 Oculodentodigital dysplasia Hallermann -- Streiff syndrome Hypoplastic left heart syndrome GJB1 Charcot -- Marie -- Tooth disease X1 GJB2 Keratitis -- ichthyosis -- deafness syndrome Ichthyosis hystrix Bart -- Pumphrey syndrome Vohwinkel syndrome ) GJB3 / GJB4 Erythrokeratodermia variabilis Progressive symmetric erythrokeratodermia GJB6 Clouston 's hidrotic ectodermal dysplasia Porin AQP2 Nephrogenic diabetes insipidus 2 See also : ion channels Retrieved from `` https://en.wikipedia.org/w/index.php?title=Congenital_insensitivity_to_pain&oldid=826772835 '' Categories : Congenital disorders of nervous system Rare diseases Syndromes Channelopathies Pain Nothing Hidden categories : Infobox medical condition ( new ) Pages using infobox medical condition with unknown parameters All articles with unsourced statements Articles with unsourced statements from August 2010 Articles containing video clips Talk Contents About Wikipedia Français 한국어 עברית Norsk Polski Português Română Suomi Svenska ไทย Українська Edit links This page was last edited on 20 February 2018, at 22 : 50. 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Question: what is the disease where you can't feel pain
Answer: Congenital insensitivity to pain (CIP), also known as congenital analgesia