{"orpha":84093,"name":"Hereditary thermosensitive neuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-84093/","orphanet_url":"https://www.orpha.net/en/disease/detail/84093","names":{"fr":{"name":"Neuropathie thermosensible héréditaire","definition":"Une neuropathie sensorimotrice démyélinisante, rare et héréditaire, caractérisée par des épisodes réversibles de faiblesse musculaire ascendante, de paresthésie et d'aréflexie, déclenchées par un épisode fébrile. Une paralysie à la pression peut être associée."},"de":{"name":"Neuropathie, hereditäre thermosensitive","definition":"Die hereditäre thermosensitive Neuropathie ist eine seltene, demyelinisierende, hereditäre motorische und sensorische Neuropathie, die durch reversible Episoden von aufsteigender Muskelschwäche, Parästhesien und Areflexie, ausgelöst durch einen Fieberschub, mit oder ohne Drucklähmung, gekennzeichnet ist."},"es":{"name":"Neuropatía termosensible hereditaria","definition":"La neuropatía termosensible hereditaria es una neuropatía sensitivo-motora desmielinizante hereditaria y poco frecuente caracterizada por episodios reversibles de debilidad muscular ascendente, parestesias y arreflexia, desencadenados por un episodio febril, con o sin parálisis por presión."},"it":{"name":"Neuropatia termosensibile ereditaria","definition":"La neuropatia termosensibile ereditaria è una neuropatia motoria e sensoriale demielinizzante rara, caratterizzata da episodi reversibili di debolezza muscolare ascendente, parestesie e areflessia, scatenati da un episodio febbrile, con o senza paralisi da pressione. ."},"nl":{"name":"Erfelijke thermosensitieve neuropathie","definition":"Erfelijke thermosensitieve neuropathie is een zeldzame, demyeliniserende, erfelijke motorische en sensorische neuropathie die gekarakteriseerd wordt door omkeerbare episodes van opstijgende spierzwakte, paresthesie en areflexie opgewekt door een febriele episode, met of zonder drukverlamming."},"pt":{"name":"Neuropatia termossensitiva hereditária"},"pl":{"name":"Dziedziczna neuropatia termowrażliwa"},"cs":{"name":"Hereditární termosenzitivní neuropatie"},"uk":{"name":"Спадкова термочутлива нейропатія","definition":"Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy."},"zh":{"name":"遗传性热敏神经病"},"tr":{"name":"Kalıtsal ısıya duyarlı nöropati"}},"xrefs":[{"source":"OMIM","code":"602107","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1124144144"},{"source":"MONDO","code":"0011197","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566575","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"9191787[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9191787[PMID]"}],"phenotypes":null}