{"orpha":98919,"name":"Miller Fisher syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cranial variant of GBS","Cranial variant of Guillain-Barré syndrome","Fisher syndrome"],"definition":"A rare acquired peripheral neuropathy characterized by acute ophthalmoplegia, ataxia, and areflexia, typically manifesting with diplopia and unsteady gait, and generalized areflexia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98919/","orphanet_url":"https://www.orpha.net/en/disease/detail/98919","names":{"fr":{"name":"Syndrome de Miller Fisher","synonyms":["Syndrome de Fisher","Variant crânien du SGB","Variant crânien du syndrome de Guillain-Barré"],"definition":"Neuropathie périphérique acquise rare caractérisée par une ophtalmoplégie aiguë, une ataxie et une aréflexie, se manifestant typiquement par une diplopie et une démarche instable, ainsi que par une aréflexie généralisée."},"de":{"name":"Miller-Fisher-Syndrom","synonyms":["Fisher-Syndrom","Guillain-Barré-Syndrom, kraniale Variante","Kraniale Variante des GBS"],"definition":"Eine seltene erworbene periphere Neuropathie, die durch akute Ophthalmoplegie, Ataxie und Areflexie gekennzeichnet ist und sich typischerweise durch Diplopie und unsicheren Gang sowie generalisierte Areflexie manifestiert."},"es":{"name":"Síndrome de Miller-Fisher","synonyms":["Síndrome de Fisher","Variante craneal del SGB","Variante craneal del síndrome de Guillain-Barré"],"definition":"Es una neuropatía periférica adquirida poco frecuente caracterizada por oftalmoplejía aguda, ataxia y arreflexia, que típicamente se manifiesta con diplopía y marcha inestable, y arreflexia generalizada."},"it":{"name":"Sindrome di Miller-Fisher","synonyms":["Sindrome di Fisher","Sindrome di Guillain-Barré, variante cranica","Variante cranica di GBS"]},"nl":{"name":"Syndroom van Miller-Fisher","synonyms":["Craniale variant van GBS","Craniale variant van syndroom van Guillain-Barré","Syndroom van Fisher"],"definition":"Een zeldzame verworven perifere neuropathie, gekenmerkt door acute oftalmoplegie, ataxie, en areflexie, die zich doorgaans manifesteert met diplopie en onvaste gang, en gegeneraliseerde areflexie."},"pt":{"name":"Síndrome Miller Fisher","definition":"Neuropatia periférica adquirida rara, caracterizada por oftalmoplegia aguda, ataxia e arreflexia, manifestando-se tipicamente com diplopia e marcha instável, e arreflexia generalizada."},"pl":{"name":"Zespół Millera i Fishera","synonyms":["Wariant czaszkowy GBS","Wariant czaszkowy zespołu Guillaina i Barrégo","Zespół Fishera"]},"cs":{"name":"Miller-Fischerův syndrom","synonyms":["Kraniální varianta GBS","Kraniální varianta Guillainova-Barrého syndromu","Fisherův syndrom","Kraniální varianta Guillain-Barrého syndromu"]},"uk":{"name":"Синдром Міллера-Фішера","synonyms":["Краніальний варіант GBS","Краніальний варіант синдрому Гійєна-Барре","Синдром Фішера"],"definition":"A rare acquired peripheral neuropathy characterized by acute ophthalmoplegia, ataxia, and areflexia, typically manifesting with diplopia and unsteady gait, and generalized areflexia."},"zh":{"name":"Miller Fisher综合征","synonyms":["吉兰巴雷综合征颅骨型"],"definition":"Miller-Fisher综合征(MFS)是吉兰-巴雷综合征(GBS)的一种罕见的脑神经变异型。"},"tr":{"name":"Miller Fisher sendromu","synonyms":["Fisher sendromu","GBS'nin kraniyal varyantı","Guillain-Barré sendromunun kraniyal varyantı"]}},"xrefs":[{"source":"ICD-10","code":"G61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C01.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"134795253"},{"source":"MONDO","code":"0005851","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D019846","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393799","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3668","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10049567","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":231416,"name":"Regional variant of Guillain-Barré syndrome","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-03-02","source":"33825117[PMID]_1532603[PMID]_11320188[PMID]_8030396[PMID]","terms":[{"hpo":"HP:0034122","label":"Anti-GQ1b antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007942","label":"Internal ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011499","label":"Mydriasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011347","label":"Abnormality of ocular abduction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009916","label":"Anisocoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001283","label":"Bulbar palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very rare (<4-1%)","criteria":null}]}}