41. HSAN IV / Congenital Insensitivity To Pain And Anhidrosis disorder name HSAN IV / congenital insensitivity to pain and anhidrosis;disorder abbreviation unknown; gene name NTRK1; gene product neurotrophic http://www.muscle.ca/content/index.php?id=670

42. CONGENITAL INSENSITIVITY/INDIFFERENCE TO PAIN: Contact A Family - For Families Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/c645.html

printer friendly CONGENITAL INSENSITIVITY/INDIFFERENCE TO PAIN home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Congenital Insensitivity to Pain: Congenital Indifference to Pain; Hereditary and Sensory Autonomic Neuropathy Types I-IV; HSAN Types I-IV In Congenital Insensitivity to Pain, there are structural abnormalities in peripheral nerves which are the peripheral pathways carrying electrical impulses from pain sensitive nerve endings in both superficial and deep tissues. In Congenital Indifference to Pain, the peripheral nerves are intact and the defect is apparently in the central structures such as the thalamus where painful impulses are normally interpreted. However, it is now thought that some individuals, formerly given a diagnosis of Congenital Indifference to Pain, have been shown by refined histological techniques, which look at the minute structures of bodies, to also have peripheral nerve abnormalities and are therefore examples of Congenital Insensitivity to Pain. Nevertheless, Congenital Indifference to Pain almost certainly exists as an independent condition, but is very rare. Congenital Insensitivity to Pain (of which types I to IV are generally accepted, with some other very rare conditions) is usually classified under the more general heading of Hereditary and Sensory Autonomic Neuropathy (HSAN). The various categories are distinguished according to clinical features, including age of onset, progressive or non-progressive, presence or absence of abnormalities of the autonomic nervous system, if the system is sympathetic (augmenting actions) or parasympathetic (inhibiting actions) and also according to the nature of structural abnormalities in peripheral nerves.

43. Index H: Contact A Family - For Families With Disabled Children: Information On HSAN see congenital insensitivity/Indifference to pain HSAN Type I see congenitalinsensitivity/Indifference to pain HSAN Type II see congenital http://www.cafamily.org.uk/Idx/h.html

printer friendly home how we can help medical information ... how you can help Please use the index below to access the condition you require information on. It may take longer to find what you are looking for this way compared with our "search this site" facility in the navigator on the left but we try to point you in the most appropriate direction using this index and therefore the results should be better. For speed, this index has been split into separate alphabetical files: numbers 0-9 A B C ... Z Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. HAE see C1 Esterase Inhibitor Deficiency HCH see Hypochondroplasia HCM see Cardiomyopathies HGG see Primary Immunodeficiencies HGPRT Deficiency see Lesch Nyhan syndrome HH see Hypothalmic Hamartoma HHH see Metabolic diseases HHT see Hereditary Haemorrhagic Telangiectasia HIV Infection and AIDS HLH see Histiocytosis HLHS see Hypoplastic Left Heart syndrome HME see Hemimegalencephaly HMG CoA Lyase Deficiency see Organic Acidaemias HMS see Hypermobility HOCM see Cardiomyopathies HOOD see Nail-Patella syndrome HPE see Holoprosencephaly HPRT see Lesch Nyhan syndrome HSAN see Congenital Insensitivity/Indifference to Pain HSAN Type I see Congenital Insensitivity/Indifference to Pain HSAN Type II see

44. Congenital Insensitivity To Pain With Anhidrosis congenital insensitivity to pain with Anhidrosis (CIPA) is a rare disease whichcauses one to lose their feeling of pain. I read this article a couple of http://serendip.brynmawr.edu/bb/neuro/neuro05/web1/ssniezek.html

This paper reflects the research and thoughts of a student at the time the paper was written for a course at Bryn Mawr College. Like other materials on Serendip , it is not intended to be "authoritative" but rather to help others further develop their own explorations. Web links were active as of the time the paper was posted but are not updated Contribute Thoughts Search Serendip for Other Papers Serendip Home Page Biology 202, Spring 2005 ... First Web Papers On Serendip Congenital Insensitivity to Pain with Anhidrosis Sarah Sniezek Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare disease which causes one to lose their feeling of pain. I read this article a couple of weeks ago about a girl who has this rare disease and is incapable of feeling pain and will never know what pain is. It intrigued me and sparked my web paper topic. I wanted to know everything there is to know about this disease and my research to give me answers, but, of course, this was not the case. The more and more I researched I began to wonder if this supports our notion of the "Brain =Behavior". There is so much more to learn about this fairly young disease and with that please take into account that these are sources off the internet and one could not know if they are fully accurate or not. As for the deep detail of the topic, such as names of different genes and etc, I do not fully understand their full meaning so I will write about what I took from all the different information about CIPA.

45. Neuropathy, Hereditary Sensory, Type IV HSAN IV; HSN IV; insensitivity to pain, congenital, with Anhydrosis; CIPA;Neuropathy, congenital Sensory, with Anhydrosis. Disorder Subdivisions http://webcenter.health.webmd.netscape.com/hw/brain_nervous_system/nord1144.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Neuropathy, Hereditary Sensory, Type IV Important It is possible that the main title of the report Neuropathy, Hereditary Sensory, Type IV is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Familial Dysautonomia, Type II Hereditary Sensory and Autonomic Neuropathy IV HSAN IV HSN IV Insensitivity to Pain, Congenital, with Anhydrosis; CIPA Neuropathy, Congenital Sensory, with Anhydrosis Disorder Subdivisions None General Discussion The hereditary sensory neuropathies (HSN) include 4-6 similar but distinct inherited degenerative disorders of the nervous system (neurodegenerative) that frequently progress to loss of feeling, especially in the hands and feet. The classification of these diseases is complicated, and sometimes a source of disagreement among the experts. Hereditary sensory neuropathy type IV (HSN4) is a rare genetic disorder characterized by the loss of sensation (sensory loss), especially in the feet and legs and, less severely, in the hands and forearms. The sensory loss is due to abnormal functioning of small, unmyelinated nerve fibers and portions of the spinal cord that control responses to pain and temperature as well as other involuntary or automatic body processes. Sweating is almost completely absent with this disorder. Mental retardation is usually present.

46. Congenital Insensitivity To Pain: A 20 Year Follow Up -- Larner Et Al. 57 (8): 9 The exact nosological status of congenital insensitivity to pain remains in doubt.Possible pathological correlates of this clinical syndrome include http://jnnp.bmjjournals.com/cgi/content/abstract/57/8/973

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Larner, A. J. Articles by Anderson, M. Journal of Neurology, Neurosurgery, and Psychiatry, 1994, Vol 57, 973-974 PAPERS Congenital insensitivity to pain: a 20 year follow up AJ Larner, J Moss, ML Rossi and M Anderson Midland Centre for Neurosurgery and Neurology, Warley, West Midlands, UK. The exact nosological status of "congenital insensitivity to pain" remains in doubt. Possible pathological correlates of this clinical syndrome include sensory neuropathy, central lesions at the level of the reticular

47. 256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA (1963, 1965) described 2 brothers with congenital insensitivity to pain and Swanson, AG congenital insensitivity to pain with anhidrosis a unique http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:256800] -e

48. 608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5 Alternative Titles; symbols. HSAN V insensitivity TO pain, congenital (1983)reported a girl with congenital insensitivity to pain. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:608654] -e

49. The Scientist :: Life Without Pain, Mar. 28, 2005 The boy had HSAN4, or congenital insensitivity to pain. Two mutations in theneurotrophic tyrosine kinase receptor type I (NTRK1) gene left his skin lacking http://www.the-scientist.com/2005/3/28/s8/1

Please login or register DAILY E-MAIL RSS HANDHELD CURRENT ISSUE DAILY NEWS UPFRONT FEATURE ... Table of Contents Daniel Barbier Life Without Pain The child's parents first realized something was wrong when their 4-month-old developed severe teething sores, and two months later those first teeth fell out. The boy frequently bled from his mouth and lost more teeth when gnawing on toys. Then he bit off part of his tongue, with nary a whimper. He had other symptoms: minor wounds that wouldn't heal, ulcerations between his fingers, and he didn't scream when receiving injections. When X-rays revealed a previously undetected skull fracture, doctors diagnosed a hereditary sensory and autonomic neuropathy (HSAN). The boy had HSAN4, or congenital insensitivity to pain. Two mutations in the neurotrophic tyrosine kinase receptor type I ( ) gene left his skin lacking nociceptors. The five HSANs, which vary by severity, age of onset, and mutated gene, vividly demonstrate that pain is vital. "People with inability to feel pain rarely make it past age 25. They become blind by rubbing their eyes, their teeth rot, and they break bones and suffer from burns," says Jeffrey A. Katz, associate director of the section for pain medicine at Northwestern University's Feinberg School of Medicine in Chicago. The original description of HSAN2 concerned a large family in Newfoundland whose many affected members had such numbness in their extremities that their digits detached. HSAN3 is even worse; because it impairs autonomic functions, individuals cannot control body temperature or blood pressure. They can't cry.

50. Karger Publishers congenital insensitivity to pain with Anhidrosis in Taiwan A Morphometric andGenetic Study YuhCherng Guoa, Kwong-Kum Liaob,d, Bing-Wen Soongb,d, http://content.karger.com/ProdukteDB/produkte.asp?Doi=78487

51. Spine - UserLogin This patient with a known diagnosis of congenital insensitivity to pain had Patients with congenital insensitivity to pain who develop a cervical disc http://www.spinejournal.com/pt/re/spine/fulltext.00007632-200007010-00019.htm

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52. McMaster Meducator » Issue 4 » congenital insensitivity to pain with Anhidrosis (CIPA) People with congenitalinsensitivity to pain go through life in danger of destroying their http://www.meducator.org/archive/20050406/06_cipa.html

CURRENT ISSUE MED BULLETIN HOW TO WRITE FRONT PAGE ... ONLINE RESOURCES McMaster Meducator , April 2005, 6: 20-21. Congenital Insensitivity to Pain with Anhidrosis (CIPA) Abdullah Alabousi It is very easy to recognize. It is known all over the world and it breaks all language barriers. It is referred to as pain. This unpleasant experience notifi es an individual that something is wrong in the body and needs to be corrected. It also serves a protective function by signalling the presence of harmful agents that may damage the body of an individual. However, pain is a complex perception that differs enormously amongst individuals (Tortora and Grabowski, 2003). PAIN, NOCICEPTION AND CIPA Unfortunately, there are only a few individuals in the world who are born with a disease that renders them unable to feel pain. This disease is known as Congenital Insensitivity to Pain with Anhidrosis, or CIPA (Theodorou et al., 2000). CIPA is extremely rare and there is currently no data available as to the prevalence and incidence of this disease. NGF AND TRKA MUTATIONS: In normal individuals, Nerve Growth Factor (NGF) stimulates the growth and supports the survival of autonomic sympathetic neurons as well as nociceptive sensory neurons, which transmit pain sensations to the spinal cord and the brain (Alberts et al., 2002). NGF consists of three types of polypeptide chains; alpha, beta and gamma, which interact to form the protein. The NGF beta chain is the one responsible for the nerve growth stimulating activity of NGF (Petruska and Mendell, 2004). NGF functions as a survival signal and acts by suppressing programmed cell death, apoptosis (Yuan and Yankner, 2000).

53. Ophthalmic Plastic And Reconstructive Surgery - UserLogin A 2year-old boy with congenital insensitivity to pain with anhidrosis (CIPA)was referred with a 2-day history of left periorbital swelling and mucoid http://www.op-rs.com/pt/re/oprs/fulltext.00002341-200401000-00017.htm

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54. Blackwell Synergy - Cookie Absent congenital insensitivity to pain in Four Related Saudi Families In patientswith congenital insensitivity to pain, selfmutilation by biting and head http://www.blackwell-synergy.com/doi/abs/10.1046/j.1525-1470.2002.00095.x

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55. Blackwell Synergy - Cookie Absent congenital insensitivity to pain with anhidrosis (CIPA), or hereditary sensoryand autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive http://www.blackwell-synergy.com/doi/abs/10.1046/j.1460-9592.2003.01235.x

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56. USATODAY.com - Chronic Pain: The Enemy Within People with congenital insensitivity to pain often don t survive past middle age,doctors say. They are often crippled, their lives cut short by injuries http://www.usatoday.com/news/health/2005-05-08-chronic-pain-cover_x.htm

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57. Neuropathy, Hereditary Sensory, Type IV and Autonomic Neuropathy IV; HSAN IV; HSN IV; insensitivity to pain, congenital,with Anhydrosis; CIPA; Neuropathy, congenital Sensory, with Anhydrosis http://www.bchealthguide.org/kbase/nord/nord1144.htm

var hwPrint=1;var hwDocHWID="nord1144";var hwDocTitle="Neuropathy, Hereditary Sensory, Type IV";var hwRank="1";var hwSectionHWID="nord1144-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Neuropathy, Hereditary Sensory, Type IV Important It is possible that the main title of the report Neuropathy, Hereditary Sensory, Type IV is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Familial Dysautonomia, Type II Hereditary Sensory and Autonomic Neuropathy IV HSAN IV HSN IV Insensitivity to Pain, Congenital, with Anhydrosis; CIPA Neuropathy, Congenital Sensory, with Anhydrosis Disorder Subdivisions None General Discussion The hereditary sensory neuropathies (HSN) include 4-6 similar but distinct inherited degenerative disorders of the nervous system (neurodegenerative) that frequently progress to loss of feeling, especially in the hands and feet. The classification of these diseases is complicated, and sometimes a source of disagreement among the experts. Hereditary sensory neuropathy type IV (HSN4) is a rare genetic disorder characterized by the loss of sensation (sensory loss), especially in the feet and legs and, less severely, in the hands and forearms. The sensory loss is due to abnormal functioning of small, unmyelinated nerve fibers and portions of the spinal cord that control responses to pain and temperature as well as other involuntary or automatic body processes. Sweating is almost completely absent with this disorder. Mental retardation is usually present.

58. Indian Pediatrics - Editorial by congenital insensitivity to pain, anhidrosis, and mental retardation. Selfinflicted injuries caused by pain insensitivity include ulcers of the http://www.indianpediatrics.net/june2005/june-608-609.htm

Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2005; 42:608-609 Hereditary Sensory and Autonomic Neuropathy Type IV A 10-year-old boy presented with history of non-healing ulcers at base of toes with subsequent loss of toes over the last three years ( Fig. 1 ). There were no draining sinuses or discharge of grains. Tone and power in limbs were normal. Sensory examination revealed generalized loss of pain and temperature sensations. Random blood sugar was normal. Nerve conduction studies showed sensorineural peripheral neuropathy. Tactile sensibility, vibration and position sense, and stereognosis were present. He had anhidrosis, habitual constipation and a low capacity overactive bladder on urodynamic study. His Intelligence Quotient was 75-80. There was no family history of similar illness. A diagnosis of Hereditary Sensory and Autonomic Neuropathy type IV (HSAN IV) was made. With bed rest, antibiotics and Eusol soaks the ulcers healed after four weeks (Fig. 2). To prevent recurrence, modified footwear for constant use was made for the child. Fig. 1. Feet deformed due to loss of all toes except the right great toe. Chronic ulcers over right second and fourth metatarso-phalengeal joints with underlying bone exposed.

59. Indian Pediatrics - Editorial congenital insensitivity to pain (hereditary sensory and autonomic neuropathy).HSAN a report of two cases. J Indian Soc Pedod Prev Dent 2002; 20 5153. http://www.indianpediatrics.net/mar2005/mar-281-284.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2005; 42:281-284 Hereditary Sensory Autonomic Neuropathy Type IV Tarun Dua* Jyoti Sharma Tanu Singhal* Ved Bhushan Arya From the Department of Pediatrics, All India Institute of Medical Sciences, and *University College of Medical Sciences, New Delhi, India. Correspondence to: Dr Tarun Dua, E-139, Sarita Vihar, New Delhi 110 044, India. Email: tdua@sify.com Manuscript received: October 23, 2003; Initial review completed: January 23, 2004; Revision accepted: September 27, 2004. Abstract: Hereditary sensory autonomic neuropathy Type IV is an autosomal recessive disorder due to lack of maturation of small myelinated and unmyelinated fibers of peripheral nerves, which convey sensation of pain and temperature, therefore, resulting in self mutilation. There is anhidrosis due to lack of innervation of normal sweat glands resulting in recurrent episodes of hyperpyrexia. The clinical presentation of two children with this rare disease is described. Key words: Hereditary sensory autonomic neuro-pathy, Insensitivity to pain, Self-mutilation.

60. Neuroscience For Kids - Pain People with congenital insensitivity to pain usually have many injuries likepressure sores, damaged joints and even missing or damaged fingers! http://faculty.washington.edu/chudler/pain.html

Pain and Why It Hurts You may not like it, but we need pain. Pain acts as a warning system that protects you. Pain says, "Warning, Warning....stop what you doing and do something else". For example, if you have your hand on a hot stove, pain tells you to stop touching the stove and remove your hand. In this way, pain protects your body from injury (or further injury if you have already hurt yourself). Pain also helps healing...because an injury hurts, you rest. There are some people who are born WITHOUT the sense of pain. These people have a rare condition called "congenital insensitivity to pain". Their nervous systems are not equipped to detect painful information. You may think this is a good thing....it is NOT. Without the ability to detect painful events, you would continue to cause injury to yourself. For example, if you broke a bone in your arm, you might continue using the arm because it did not hurt. You could cause further injury to your arm. People with congenital insensitivity to pain usually have many injuries like pressure sores, damaged joints and even missing or damaged fingers! So, what kind of things in the outside world can cause pain? Events that cause reactions are called

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