{"orpha":391392,"name":"Familial episodic pain syndrome with predominantly lower limb involvement","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391392/","orphanet_url":"https://www.orpha.net/en/disease/detail/391392","names":{"fr":{"name":"Syndrome douloureux épisodique familial avec atteinte prédominante des membres inférieurs","definition":"Sous-type du syndrome douloureux épisodique familial, caractérisé par une douleur intense, épisodique et/ou cyclique localisée principalement dans la partie distale des membres inférieurs (affectant parfois aussi les membres supérieurs), déclenchée/exacerbée par la fatigue, l'exposition au froid et/ou les changements météorologiques et soulagée par des médicaments anti-inflammatoires, dont la fréquence a tendance à diminuer avec l'âge. Survenant généralement en fin de journée, les épisodes durent de 15 à 30 minutes et s'accompagnent de sueurs et d'une sensation de froid dans la zone touchée."},"de":{"name":"Familiäres episodisches Schmerzsyndrom mit vorwiegender Beteiligung der unteren Körperregion"},"es":{"name":"Síndrome familiar de dolor episódico con afectación predominante de las extremidades inferiores","definition":"Es un subtipo del síndrome de dolor episódico familiar caracterizado por dolor intenso, episódico y/o cíclico, principalmente localizado en las extremidades inferiores distales (que afecta ocasionalmente a las extremidades superiores) desencadenado / exacerbado por fatiga, exposición al frío y/o cambios climáticos, que se alivia con medicamentos antiinflamatorios y que tiende a disminuir con la edad. Los episodios ocurren, generalmente, al final del día, con una duración de 15-30 minutos y se asocian con sudoración y una sensación de frío en el área afectada."},"it":{"name":"Sindrome da dolore episodico familiare con prevalente interessamento degli arti inferiori","definition":"La sindrome da dolore episodico familiare con prevalente interessamento degli arti inferiori è un sottotipo della sindrome da dolore episodico familiare; è caratterizzato da dolore intenso, episodico e/o ciclico, localizzato per lo più nella porzione distale degli arti inferiori (occasionalmente degli arti superiori), scatenato/esacerbato dall'affaticamento, dall'esposizione al freddo e/o dai cambiamenti atmosferici, ed alleviato dai farmaci antiinfiammatori. La frequenza degli episodi tende a diminuire con l'età. Di solito gli episodi si verificano verso sera, durano 15-30 minuti e si associano a sudorazione e a sensazione di freddo nella zona colpita."},"nl":{"name":"Familiaal episodisch pijnsyndroom met voornamelijk betrokkenheid van onderste ledematen","definition":"Familiaal episodisch pijnsyndroom met betrokkenheid van voornamelijk de onderste ledematen is een subtype van familiaal episodisch pijnsyndroom, en wordt gekarakteriseerd door intense, episodische en/of cyclische pijn die zich voornamelijk situeert in de distale onderste ledematen (en occasioneel ook de bovenste ledematen treft), die uitgelokt/verergerd wordt door vermoeidheid, blootstelling aan koude en/of weersveranderingen en verlicht wordt met anti-inflammatoire medicatie, en die minder frequent voorkomt met het ouder worden. Episodes komen meestal laat op de dag voor, duren 15-30 minuten en gaan gepaard met zweten en een koud gevoel van de getroffen streek."},"pt":{"name":"Síndrome de dor familiar episódica com envolvimento predominante dos membros inferiores"},"pl":{"name":"Zespół rodzinnego bólu epizodycznego z przewagą w kończynach dolnych"},"cs":{"name":"Familiární syndrom epizodických bolestí s predominantním postižením dolní končetiny"},"uk":{"name":"Сімейний епізодичний больовий синдром з переважним ураженням нижніх кінцівок","definition":"A subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area."},"zh":{"name":"家族性阵发性疼痛综合征伴下肢受累为主","definition":"以下肢受累为主的家族性阵发性疼痛综合征是家族性阵发性疼痛综合征的一种亚型，主要表现为剧烈、阵发性和/或周期性疼痛，主要局限于下肢远端(偶尔也会影响上肢)，由疲劳、寒冷暴露和/或天气变化引发/加剧，并可通过消炎药物缓解。随着年龄的增长，疼痛的频率有减少的趋势。疾病的发作通常发生在一天的晚些时候，持续15-30分钟，并伴随受累区域的出汗和冷感。"},"tr":{"name":"Ağırlıklı alt ekstremite tutulum ile seyreden ailesel epizodik ağrı sendromu"}},"xrefs":[{"source":"OMIM","code":"615552","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MG31.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014247","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3809899","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":391384,"name":"Familial episodic pain syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SCN11A","name":"sodium voltage-gated channel alpha subunit 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24207120[PMID]","hgnc":"10583","ensembl":"ENSG00000168356","omim":"604385","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"21698661[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}