{"orpha":831,"name":"Congenital cervical spinal stenosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital narrowing of cervical spinal canal","Congenital stenosis of the cervical spine"],"definition":"Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-831/","orphanet_url":"https://www.orpha.net/en/disease/detail/831","names":{"fr":{"name":"Sténose spinale cervicale congénitale","synonyms":["Rétrecissement congénital du canal médullaire cervical"],"definition":"Maladie neurologique rare caractérisée par un rétrécissement congénital de la structure osseuse du canal rachidien cervical (diamètre sagittal <14 mm), prédisposant l'individu à une compression neurale symptomatique à type de crampes, paresthésies, douleurs, hypertonie et faiblesse musculaires, myélopathie et troubles sphinctériens."},"de":{"name":"Zervikale Spinalkanalstenose, kongenitale","synonyms":["Stenose der Halswirbelsäule, kongenitale","Zervikale Spinalstenose, kongenitale"]},"es":{"name":"Estenosis espinal cervical congénita","synonyms":["Estenosis congénita de la columna cervical","Estrechamiento congénito del canal espinal cervical"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por estrechamiento congénito de la anatomía ósea del canal espinal cervical (diámetro sagital <14 mm), que predispone al individuo a la compresión neural sintomática caracterizada por calambres, parestesias, dolor, hipertonía muscular y debilidad, mielopatía y trastornos esfinterianos."},"it":{"name":"Stenosi congenita del canale spinale cervicale","definition":"La stenosi congenita del canale spinale cervicale è una malattia neurologica rara, caratterizzata dal restringimento anatomico congenito dell'osso nel tratto cervicale della colonna (diametro sagittale <14mm), che predispone il paziente alla compressione sintomatica dei nervi (crampi, parestesie, dolore, ipertonia e debolezza muscolare, mielopatia e disfunzioni sfinteriche)."},"nl":{"name":"Congenitale cervicale spinale stenose","synonyms":["Congenitale stenose van de cervicale wervelkolom","Congenitale vernauwing van het cervicale wervelkanaal"],"definition":"Congenitale cervicale spinale stenose is een zeldzame neurologische ziekte die wordt gekarakteriseerd door een congenitale vernauwing van de benige anatomie van het cervicale ruggenmergkanaal (sagittale diameter <14mm), wat het individu vatbaar maakt voor symptomatische neurale compressie, zoals krampen, paresthesieën, pijn, hypertonie en zwakte van spieren, myelopathie en sluitspierstoornissen."},"pt":{"name":"Estenose do canal medular cervical congénita"},"pl":{"name":"Wrodzone zwężenie kanału rdzeniowego kręgowego w odcinku szyjnym","synonyms":["Congenital narrowing of cervical spinal canal","Congenital stenosis of the cervical spine"]},"cs":{"name":"Vrozené zúžení cervikální části páteřního kanálu","synonyms":["Congenital narrowing of cervical spinal canal","Congenital stenosis of the cervical spine"]},"uk":{"name":"Вроджений стеноз шийного відділу хребта","synonyms":["Вроджене звуження шийного відділу хребетного каналу","Вроджений стеноз шийного відділу хребта"],"definition":"Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances."},"zh":{"name":"先天性颈椎管狭窄","synonyms":["先天性颈椎管狭窄症"]},"tr":{"name":"Doğumsal servikal spinal stenoz","synonyms":["Servikal omurganın Doğumsal stenozu","Doğumsal servikal spinal kanalın daralması"]}},"xrefs":[{"source":"ICD-10","code":"Q06.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019357","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749275","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102000,"name":"Medullar disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult"],"prevalence":[],"phenotypes":null}