{"orpha":71279,"name":"CANOMAD syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CANDA syndrome","Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome","Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies"],"definition":"A rare chronic immune-mediated polyneuropathy characterized by a progressive disabling neuropathy with marked gait disturbance primarily due to sensory ataxia with concurrent cranial neuropathies (internal or external ophthalmoplegia, dysphagia, dysarthria, or facial weakness) and anti-disialosyl IgM antibodies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71279/","orphanet_url":"https://www.orpha.net/en/disease/detail/71279","names":{"fr":{"name":"Syndrome CANOMAD","synonyms":["Ataxie chronique neuropathique avec anticorps IgM anti-disialosyl","Neuropathie ataxiante avec IgM anti-gangliosides disialylés","Syndrome CANDA","Syndrome d'ataxie chronique neuropathique-ophtalmoplégie-paraprotéine IgM-cryoagglutinines-anticorps disialylés"],"definition":"Polyneuropathie dysimmunitaire rare caractérisée par une neuropathie progressive invalidante et des troubles marqués de la marche principalement dus à une ataxie sensorielle accompagnée de neuropathies crâniennes (ophtalmoplégie interne ou externe, dysphagie, dysarthrie ou faiblesse des muscles faciaux) et la présence d'IgM anti-gangliosides disialylés."},"de":{"name":"CANOMAD-Syndrom","synonyms":["CANDA-Syndrom","Chronisch-ataxische Neuropathie-Ophtalmoplegie-IgM-Paraprotein-Kälteagglutination-Disialosyl-Antikörper-Syndrom","Neuropathie, ataxische chronische sensorische mit Anti-Disialosyl IgM-Antikörper"],"definition":"Eine seltene chronische, immunvermittelte Polyneuropathie, die durch eine progressive, einschränkende Neuropathie mit ausgeprägter Gangstörung gekennzeichnet ist, die primär auf sensorischer Ataxie beruht und mit kranialen Neuropathien (interne oder externe Ophthalmoplegie, Dysphagie, Dysarthrie oder Schwäche der Fazialmuskeln) und Anti-Disialosyl-IgM-Antikörpern einhergeht."},"es":{"name":"Síndrome CANOMAD","synonyms":["Neuropatía crónica atáxica sensorial con anticuerpos IgM antidisialosil","Síndrome CANDA","Síndrome de neuropatía atáxica crónica-oftalmoplejía-paraproteína IgM-aglutininas frías-anticuerpos disialosil"],"definition":"Es una polineuropatía crónica poco frecuente causada por el sistema inmunitario caracterizada por una neuropatía incapacitante progresiva con grave alteración de la marcha debida fundamentalmente a una ataxia sensitiva con neuropatías craneales concurrentes (oftalmoplejía interna o externa, disfagia, disartria o debilidad facial) y anticuerpos IgM anti-disialosil."},"it":{"name":"Sindrome CANOMAD","synonyms":["Neuropatia atassica cronica - oftalmoplegia - paraproteina IgM - crioagglutinine - anticorpi anti-disialosil","Neuropatia atassica sensitiva cronica associata ad anticorpi anti-dialosil IgM"],"definition":"È una polineuropatia cronica rara, immuno-mediata, caratterizzata da neuropatia invalidante progressiva con deficit mercato della deambulazione secondario all'atassia sensoriale, associata a neuropatie dei nervi cranici (oftalmoplegia interna o esterna, disfagia, disartria o debolezza facciale) e anticorpi IgM anti-disialosil."},"nl":{"name":"CANOMAD-syndroom","synonyms":["CANDA-syndroom","Chronische ataxische neuropathie - oftalmoplegie - IgM-paraproteïne - koude agglutininen - disialosylantilichamen-syndroom","Chronische sensorische ataxische neuropathie met anti-dyalosyl IgM-antilichamen"],"definition":"Een zeldzame, chronische, immuun-gemedieerde polyneuropathie die gekarakteriseerd wordt door een progressief invaliderende neuropathie met aanzienlijke gangstoornis, voornamelijk als gevolg van sensorische ataxie, in combinatie met craniale neuropathieën (interne of externe oftalmoplegie, dysfagie, dysartrie, of gezichtszwakte) en anti-disialosyl IgM antilichamen."},"pt":{"name":"Síndrome CANOMAD","synonyms":["Neuropatia crónica atáxica - oftalmoplegia - paraproteína IgM - aglutininas frias - anticorpos anti-dissialosil"]},"pl":{"name":"Zespół CANOMAD","synonyms":["Przewlekła neuropatia czuciowa z przeciwciałami IgM przeciwko disialogangliozydom","Przewlekła neuropatia z ataksją - oftalmoplegia - paraproteiny IgM - zimne aglutyniny - przeciwciała przeciwko disialylowanym gangliozydom"]},"cs":{"name":"CANOMAD syndrom","synonyms":["Syndrom zahrnující chronickou ataktickou neuropatii, oftalmoplegii, IgM paraprotein-studené aglutininy a disialosylové protilátky","Chronická senzorická ataktická neuropatie s anti-dyalosylovými IgM protilátkami"]},"uk":{"name":"Синдром CANOMAD","synonyms":["Синдром CANDA","Синдром хронічної атаксичної нейропатії - офтальмоплегії - парапротеїн IgM - холодові аглютиніни - дисіалозильних антитіл","Хронічна сенсорна атаксична нейропатія з антидізіалозильними IgM антитілами"],"definition":"A rare chronic immune-mediated polyneuropathy characterized by a progressive disabling neuropathy with marked gait disturbance primarily due to sensory ataxia with concurrent cranial neuropathies (internal or external ophthalmoplegia, dysphagia, dysarthria, or facial weakness) and anti-disialosyl IgM antibodies."},"zh":{"name":"CANOMAD综合征","synonyms":["慢性共济失调性神经病-眼肌麻痹-IgM副蛋白-冷凝集素-disialosyl抗体综合征"]},"tr":{"name":"CANOMAD sendromu","synonyms":["CANDA sendromu","Anti-disialosil IgM antikorları ile seyreden kronik duyusal ataksik nöropati","Kronik ataksik nöropati-oftalmopleji-IgM paraprotein-soğuk aglutininler-disialosil antikorları sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G61.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C01.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"803014219"},{"source":"MONDO","code":"0019109","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537980","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931684","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9778","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088816","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":208974,"name":"Chronic acquired demyelinating polyneuropathy","classifications":[181]},{"orpha":209010,"name":"Peripheral neuropathy associated with monoclonal gammopathy","classifications":[181]},{"orpha":182064,"name":"Rare neuroinflammatory or neuroimmunological disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}