{"orpha":268868,"name":"Isolated amyelia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268868/","orphanet_url":"https://www.orpha.net/en/disease/detail/268868","names":{"fr":{"name":"Amyélie isolée","definition":"Malformation rare du système nerveux central caractérisée par l'absence congénitale de la moelle épinière, généralement associée à des malformations rachidiennes osseuses segmentaires. Les déficits neurologiques dépendent des segments affectés et du fonctionnement de la moelle épinière résiduelle. Généralement la moelle épinière apparaît normale au-dessus de la malformation et volumineuse, épaissie et basse dans la partie caudale. Le tableau clinique comprend des degrés variables de faiblesse musculaire (associée à des déformations des membres inférieurs) et une vessie neurogène."},"de":{"name":"Amyelie, isolierte","definition":"Eine seltene Fehlbildung des zentralen Nervensystems, die durch ein angeborenes Fehlen des Rückenmarks gekennzeichnet ist und in der Regel mit segmentalen knöchernen Anomalien der Wirbelsäule einhergeht. Die neurologischen Defizite hängen von den betroffenen Segmenten und der Funktion des restlichen Rückenmarks ab. Typischerweise erscheint das Rückenmark oberhalb des Defekts normal und nach kaudal hin voluminös, verdickt und tiefliegend. Das klinische Erscheinungsbild umfasst unterschiedlich starke motorische Schwäche (in Verbindung mit Fehlbildungen der unteren Gliedmaßen) und neurogene Blasenfunktionsstörungen."},"es":{"name":"Amielia aislada","definition":"Es una malformación poco frecuente del sistema nervioso central caracterizada por ausencia congénita de la médula espinal, generalmente asociada con anomalías espinales óseas segmentarias. Los déficits neurológicos dependen de los segmentos afectados y del funcionamiento de la médula espinal residual. Por lo general, la médula espinal parece normal por encima del defecto y voluminosa, engrosada y baja en su extremo caudal. La presentación clínica incluye diversos grados de debilidad motora (asociada a deformidades de las extremidades inferiores) y disfunción neurógena de la vejiga."},"it":{"name":"Amielia isolata","definition":"Si tratta di una malformazione rara del sistema nervoso centrale, caratterizzata da agenesia congenita del midollo spinale, di solito associata ad anomalie delle ossa della colonna. I deficit neurologici dipendono dai segmenti interessati e dalla funzione del midollo spinale residuo. Di solito il midollo spinale ha un aspetto normale al di sopra del difetto, mentre ha un aspetto voluminoso, ispessito e infossato nella porzione caudale. Il quadro clinico comprende la debolezza motoria di gravità variabile (associata alle deformità degli arti inferiori) e la vescica neurogena."},"nl":{"name":"Geïsoleerde amyelie","definition":"Een zeldzame malformatie van centraal zenuwstelsel, gekarakteriseerd door congenitale afwezigheid van ruggenmerg, meestal geassocieerd met segmentale benige anomalieën van ruggenmerg. Neurologische functiestoornissen hangen af van aangetaste segmenten en functioneren van resterend ruggenmerg. Doorgaans lijkt het ruggenmerg normaal boven het defect, en omvangrijk, verdikt en laagzittend caudaal ervan. De klinische presentatie omvat variabele gradaties van motorische zwakte (geassocieerd met misvormingen van onderste ledematen) en neurogene blaas."},"pt":{"name":"Amielia isolada"},"pl":{"name":"Izolowany brak rdzenia kręgowego"},"cs":{"name":"Izolovaná amyelie"},"uk":{"name":"Ізольована амієлія","definition":"A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction."},"zh":{"name":"无脊髓畸形"},"tr":{"name":"İzole ameli"}},"xrefs":[{"source":"ICD-10","code":"Q06.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA07.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1787577133"},{"source":"MONDO","code":"0017088","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266510","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268843,"name":"Malformation of the neurenteric canal, spinal cord and column","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}