{"orpha":480701,"name":"Facial diplegia with paresthesias","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Facial diplegia with paresthesias variant of GBS","Facial diplegia with paresthesias variant of Guillain-Barré syndrome"],"definition":"A rare localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480701/","orphanet_url":"https://www.orpha.net/en/disease/detail/480701","names":{"fr":{"name":"Diplégie faciale avec paresthésies","synonyms":["Variant diplégie faciale avec paresthésies du syndrome Guillain-Barré","Variant diplégie faciale avec paresthésies du SGB"],"definition":"Variant localisé rare du syndrome de Guillain-Barré caractérisé par une paralysie bilatérale rapidement progressive du nerf facial, des paresthésies distales et une faiblesse motrice minime ou nulle. Les réflexes tendineux profonds sont généralement diminués ou absents mais peuvent être présents, voire exagérés dans de rares cas. L'analyse du LCR peut révéler une dissociation albuminocytologique. Les études de vitesse de conduction nerveuse révèlent souvent une neuropathie de type démyélinisant, bien qu'une polyneuropathie axonale ait également été décrite."},"de":{"name":"Faziale Diplegie mit Parästhesie","synonyms":["Faziale Diplegie mit Parästhesie, GBS-Variante","Faziale Diplegie mit Parästhesie, Variante des Guillain-Barré-Syndrom"],"definition":"Eine seltene lokalisierte Variante des Guillain-Barré-Syndroms, die durch eine rasch fortschreitende beidseitige Gesichtsnervenlähmung, distale Parästhesien und minimale oder keine motorische Schwäche gekennzeichnet ist. Tiefe Sehnenreflexe sind in der Regel vermindert oder nicht vorhanden, können aber in seltenen Fällen vorhanden oder sogar gesteigert sein. Bei der Analyse des Liquors kann eine albuminzytologische Dissoziation festgestellt werden. Untersuchungen der Nervenleitgeschwindigkeit zeigen häufig eine demyelinisierende Neuropathie, obwohl auch eine axonale Polyneuropathie beschrieben wurde."},"es":{"name":"Diplejía facial con parestesias","synonyms":["Diplejía facial con parestesias variante del SGB","Diplejía facial con parestesias variante del síndrome de Guillain-Barré"],"definition":"Es una variante localizada y poco frecuente del síndrome de Guillain-Barré caracterizada por parálisis bilateral del nervio facial rápidamente progresiva, parestesias distales y debilidad motora mínima o ausente. Por lo general, los reflejos osteotendinosos están disminuidos o ausentes, aunque en algunos casos pueden estar presentes o incluso aumentados. El análisis del LCR puede revelar disociación albuminocitológica. Los estudios de la velocidad de conducción nerviosa a menudo muestran una neuropatía desmielinizante, aunque también se ha descrito una polineuropatía axonal."},"it":{"name":"Diplegia facciale con parestesie","definition":"Si tratta di una variante rara localizzata della sindrome di Guillain-Barré, caratterizzata da paralisi bilaterale dei nervi facciali a progressione rapida, parestesie distali e debolezza motoria minima o assente. Di solito i riflessi tendinei profondi sono ridotti o assenti ma, in rari casi, sono presenti o persino aumentati. L'analisi del liquido cefalorachidiano può evidenziare una dissociazione albumino-citologica. L'esame della velocità di conduzione dei nervi spesso evidenzia una neuropatia demielinizzante. Sono stati descritti anche pazienti con polineuropatia assonale."},"nl":{"name":"Faciale diplegie met paresthesie","synonyms":["Faciale diplegie met paresthesie-variant van GBS","Faciale diplegie met paresthesie-variant van syndroom van Guillain-Barré"],"definition":"Een zeldzame gelokaliseerde variant van syndroom van Guillain-Barré, gekarakteriseerd door snel progressieve bilaterale paralyse van nervus facialis, distale paresthesie, en minimale of geen motorische zwakte. Diepe peesreflexen azijn meestal verminderd of afwezig, maar kunnen in zeldzame gevallen aanwezig of zelfs toegenomen zijn. Analyse van CSV toont mogelijk albuminocytologische dissociatie. Studies van zenuwgeleidingssnelheid tonen vaak demyeliniserend type van neuropathie, hoewel axonale polyneuropathie ook reeds werd beschreven."},"pt":{"name":"Diplegia facial com parestesias"},"pl":{"name":"Porażenie nerwu twarzowego z parestezją","synonyms":["Porażenie nerwu twarzowego z parestezją wariant GBS","Porażenie nerwu twarzowego z parestezją wariant zespołu Guillaina i Barrégo"]},"cs":{"name":"Faciální diplegie s parestéziemi","synonyms":["Facial diplegia with paresthesias variant of GBS","Facial diplegia with paresthesias variant of Guillain-Barré syndrome","Obličejová diplegie s parestéziemi varianta GBS","Obličejová diplegie s parestéziemi jako varianta Guillain-Barrého syndromu"]},"uk":{"name":"Диплегія лицьового нерва з парестезіями","synonyms":["Лицьова диплегія з парестезіями, варіант ГБС","Лицьова диплегія з парестезіями, варіант синдрому Гійєна-Барре"],"definition":"A rare localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described."},"zh":{"name":"面部瘫痪伴感觉异常","synonyms":["Guillain-Barré综合征的面部瘫痪伴感觉异常"],"definition":"Guillain-BarrÚ综合征的一种罕见的局部变异型，其特点是迅速进行性的双侧面神经麻痹，远端感觉异常，极少或不会出现运动肌无力。深部腱反射通常减弱或消失，但在罕见病例中可出现甚至更严重。CSF分析可发现蛋白细胞分离。神经传导速度研究常显示脱髓鞘型神经病变，但也有描述轴索多发性神经病变。"},"tr":{"name":"Parestezi ile seyreden yüz diplejisi","synonyms":["Guillain-Barré Sendromu parestezi varyantı ile seyreden fasiyal dipleji","GBS'nin parestezi varyantı ile seyreden fasiyal diplejisi"]}},"xrefs":[{"source":"ICD-10","code":"G61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018818","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567526","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":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}