{"orpha":99857,"name":"Secondary syringomyelia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99857/","orphanet_url":"https://www.orpha.net/en/disease/detail/99857","names":{"fr":{"name":"Syringomyélie secondaire","definition":"Maladie rare de la moelle épinière qui se caractérise par le développement d'une cavité ou d'une fistule remplie de liquide à l'intérieur de la moelle épinière en raison d'un blocage de la circulation du liquide cérébrospinal (par exemple, en raison d'une archnoïdite basale, d'une carcinomatose méningée, de lésions tumorales de différents types), d'une lésion de la moelle épinière (par exemple, en raison d'un traumatisme, d'une nécrose radique, d'une hémorragie, d'un abcès spinal), d'un dysraphisme rachidien ou de tumeurs intramédullaires. Elle se manifeste par une douleur neuropathique, un engourdissement, une faiblesse musculaire, des modifications du tonus ou de la spasticité ou des changements autonomes (hyperhidrose, instabilité du rythme cardiaque ou de la pression artérielle). Le symptôme classique est une perte sélective de la sensation de douleur et de température, la fonction de la colonne dorsale (toucher et pression) étant relativement préservée."},"de":{"name":"Syringomyelie, sekundäre"},"es":{"name":"Siringomielia secundaria","definition":"Es una enfermedad medular poco frecuente, que se define como el desarrollo de una cavidad llena de líquido o fístula en el interior de la médula espinal, debido a un bloqueo de la circulación del LCR (por ejemplo, debido a una aracnoiditis basal, carcinomatosis meníngea, diversas lesiones ocupantes de espacio), lesión de la médula espinal (p. ej., por traumatismo, necrosis por radiación, hemorragia, absceso espinal), disrafia espinal o tumores intramedulares. Se presenta con dolor neuropático, adormecimiento, debilidad muscular, cambios en el tono o espasticidad o cambios autonómicos (hiperhidrosis, frecuencia cardíaca o inestabilidad de la presión sanguínea). Los hallazgos clásicos son pérdida selectiva de la sensibilidad al dolor y la temperatura con preservación relativa de la función de la columna dorsal (contacto y presión)."},"it":{"name":"Siringomielia secondaria","definition":"La siringomielia secondaria è una malattia rara del midollo, caratterizzata dalla formazione di una cavità o siringa contenente liquido, localizzata all'interno del midollo spinale, causata dal blocco della circolazione del liquido cerebrospinale (secondario ad aracnoidite basale, carcinomatosi meningea, diverse lesioni in forma di massa), da lesioni del midollo spinale (dovute a traumi, necrosi da radiazioni, emorragie, ascessi spinali), da disrafismo spinale o da tumori intramidollari. Esordisce con dolore neuropatico, insensibilità, debolezza muscolare, alterazioni del tono, spasticità o alterazioni del sistema autonomo (iperidrosi, instabilità del ritmo cardiaco o della pressione arteriosa). L'insensibilità selettiva al dolore e alla temperatura è un segno clinico caratteristico, mentre la funzione del tratto dorsale della colonna (tatto e pressione) è relativamente preservata."},"nl":{"name":"Secundaire syringomyelie","definition":"Secundaire syringomyelie is een zeldzame medullaire ziekte die gedefinieerd wordt als de ontwikkeling van een met vocht gevulde holte of syrinx in het ruggenmerg door obstructie van de circulatie van cerebrospinaal vocht (CSV) (e.g. door basale arachnoïditis, meningeale carcinomatose, verscheidene volumineuze laesies), verwonding van het ruggenmerg (e.g. door trauma, stralingsnecrose, hemorragie, spinaal abces), spinale dysrafie of intramedullaire tumoren. Het komt tot uiting met neuropathische pijn, gevoelloosheid, spierzwakte, veranderingen in tonus of spasticiteit, of autonome veranderingen (hyperhidrose, instabiliteit van de hartslag of bloeddruk). Klassieke bevindingen zijn selectief verlies van gevoeligheid voor pijn en temperatuur met relatief behoud van de functie van de dorsale kolom (aanraking en druk)."},"pt":{"name":"Siringomielia, secundária"},"pl":{"name":"Wtórna jamistość rdzenia","definition":"*Wtórna jamistość rdzenia jest rzadką chorobą rdzenia kręgowego, w której dochodzi do powstania wypełnionej płynem jamy lub przetoki w rdzeniu kręgowym w wyniku blokady krążenia płynu mózgowo-rdzeniowego (np. z powodu zapalenia pajęczynówki, raka opon mózgowo-rdzeniowych, obecności zmian guzowatych o różnym charakterze) uszkodzenia rdzenia kręgowego (np. w wyniku urazu, martwicy popromiennej, krwotoku, ropnia kręgosłupa), dysrafii rdzenia kręgowego lub guzów wewnątrzrdzeniowych. Objawia się bólem neuropatycznym, drętwieniem, osłabieniem mięśni, zmianami napięcia lub spastycznością mięśni lub zaburzeniami układu autonomicznego (nadmierne pocenie się, niestabilność akcji serca lub ciśnienia tętniczego krwi). Klasyczne objawem jest selektywna utrata czucia bólu i temperatury przy względnym zachowaniu funkcji sznurów grzbietowych (czucie dotyku i ucisku)."},"cs":{"name":"Sekundární syringomyelie"},"uk":{"name":"Вторинна сирингомієлія","definition":"Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings."},"zh":{"name":"继发性脊髓空洞症","definition":"继发性脊髓空洞症是一种罕见的脊髓疾病，定义为由于脑脊液循环受阻(如基底节段炎、脑膜癌、各种肿块损害)、脊髓损伤(如外伤、放射性坏死、出血、脊髓脓肿)、脊髓闭合不全或髓内肿瘤而在脊髓内形成充满液体的空腔或空洞。表现为神经性疼痛、麻木、肌肉无力、肌张力或痉挛状态改变、自主神经改变(多汗、心率或血压不稳定)。选择性温痛觉丧失，相对保留脊髓背根功能(触觉和压力觉)是经典的发现。"},"tr":{"name":"Sekonder siringomiyeli"}},"xrefs":[{"source":"ICD-10","code":"G95.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8D66.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1644720463"},{"source":"MONDO","code":"0020509","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749399","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99859,"name":"OBSOLETE: Posttraumatic syringomyelia","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":3280,"name":"Syringomyelia","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-28","source":"19991056[PMID]_2377746[PMID]_10967183[PMID]_11239955[PMID]_12181709[PMID]","terms":[{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0040272","label":"Hyperintensity of MRI T2 signal of the spinal cord","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000224","label":"Decreased taste sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007209","label":"Facial paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010532","label":"Paroxysmal vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010871","label":"Sensory ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","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:0007305","label":"CNS demyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003409","label":"Distal sensory impairment of all modalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007024","label":"Pseudobulbar paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}