{"orpha":231445,"name":"Paraparetic variant of Guillain-Barré syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Paraparetic variant of GBS"],"definition":"Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231445/","orphanet_url":"https://www.orpha.net/en/disease/detail/231445","names":{"fr":{"name":"Variant paraparétique du syndrome de Guillain-Barré","synonyms":["Variant paraparétique du SGB"],"definition":"Variant rare du syndrome de Guillain-Barré caractérisé par une faiblesse isolée de la jambe, une aréflexie et une douleur radiculaire dans la jambe, qui peut simuler un syndrome de la queue de cheval ou de la moelle épinière. Les bras, les muscles oculaires, faciaux et oropharyngés sont épargnés et la fonction sphinctérienne est normale."},"de":{"name":"Paraparetische Variante des Guillain-Barré-Syndroms","definition":"Eine seltene Variante des Guillain-Barré-Syndroms, die durch isolierte Beinschwäche, Areflexie und radikuläre Beinschmerzen gekennzeichnet ist, die ein Cauda-Äquina- oder Rückenmarkssyndrom simulieren können. Die Arme, Augen-, Gesichts- und Oropharynxmuskeln bleiben verschont, und die Schließmuskelfunktion ist normal."},"es":{"name":"Variante paraparética del síndrome de Guillain-Barré","synonyms":["Variante paraparética del GBS"],"definition":"La variante paraparética del síndrome de Guillain-Barré, es una variante poco frecuente del síndrome de Guillain-Barré caracterizada por debilidad aislada, arreflexia y dolor radicular de las piernas que puede simular una cauda equina o síndrome de la médula espinal. Los músculos de los brazos, oculares, faciales y orofaríngeos están conservados, y la función esfinteriana es normal."},"it":{"name":"Variante paraparetica della sindrome di Guillain-Barré","synonyms":["Variante paraparetica di GBS"],"definition":"La variante paraparetica della sindrome di Guillain-Barré è una malattia rara caratterizzata da debolezza isolata degli arti inferiori, areflessia e dolore radicolare nelle gambe, che possono ricordare la sindrome della cauda equina o del midollo spinale. Sono risparmiati i muscoli delle braccia, degli occhi, del viso e dell'oro-faringe. La funzione degli sfinteri è normale."},"nl":{"name":"Paraparetische variant van syndroom van Guillain-Barré","synonyms":["Paraparetische variant van GBS"],"definition":"Paraparetische variant van Guillain-Barré syndroom is een zeldzame variant van syndroom van Guillain-Barré, en wordt gekarakteriseerd door geïsoleerde zwakte van de benen, areflexie en radiculaire pijn in de benen, die mogelijk een cauda-equina- of ruggenmergsyndroom simuleren. De arm-, oculaire, faciale, en orofaryngeale spieren blijven gespaard, en sfincters functioneren normaal."},"pt":{"name":"Variante paraparética do síndrome Guillain-Barré"},"pl":{"name":"Paraparetyczny wariant zespołu Guillaina i Barrégo","synonyms":["Paraparetyczny wariant GBS"]},"cs":{"name":"Paraparetická varianta Guillainova-Barrého syndromu","synonyms":["Paraparetická varianta GBS","Paraparetická varianta Guillain-Barrého syndromu"]},"uk":{"name":"Паралітичний варіант синдрому Гійєна-Барре","synonyms":["Паралітичний варіант GBS"],"definition":"Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal."},"zh":{"name":"吉兰-巴雷综合征下身轻瘫变体","synonyms":["GBS下身轻瘫变体"],"definition":"吉兰-巴雷综合征下身轻瘫变异是一种罕见的吉兰-巴雷综合征变异，其特征为孤立性腿无力、反射消失和腿部根性疼痛，类似马尾或脊髓综合征。手臂、眼、面、口咽肌无累及，括约肌功能正常。"},"tr":{"name":"Guillain-Barrè sendromunun paraparetik varyantı","synonyms":["GBS'nin paraparetik 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":"268878252"},{"source":"MONDO","code":"0016497","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707803","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":231419,"name":"Functional variant of Guillain-Barré syndrome","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-09-17","source":"28514704[PMID]","terms":[{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006858","label":"Impaired distal proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025459","label":"Increased CSF/serum albumin ratio","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011868","label":"Sciatica","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011948","label":"Acute respiratory tract infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011096","label":"Peripheral demyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Excluded (0%)","criteria":null}]}}