{"orpha":329475,"name":"Spastic paraplegia-Paget disease of bone syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329475/","orphanet_url":"https://www.orpha.net/en/disease/detail/329475","names":{"fr":{"name":"Syndrome de paraplégie spastique-maladie de Paget","definition":"Le syndrome de paraplégie spastique-maladie de Paget est une forme complexe extrêmement rare de paraplégie spastique héréditaire, caractérisée par une paraplégie spastique lentement progressive se présentant à l'âge adulte (avec une augmentation du tonus musculaire, une diminution de la force des muscles antérieurs des tibias et une hyperréflexie au niveau des extrémités inférieures avec un signe de Babinski), associée à une maladie de Paget. Un déclin cognitif, une démence et des changement myopathiques sur des biopsies musculaires ont aussi été rapportés."},"de":{"name":"Spastische Paraplegie mit Paget-Syndrom","definition":"Die Spastische Paraplegie mit Paget-Syndrom ist eine extrem seltene, komplexe Form der hereditären spastischen Paraplegie, die im Erwachsenenalter auftritt und durch eine langsam fortschreitende spastische Paraplegie (mit erhöhtem Muskeltonus, verminderter Kraft in den vorderen tibialen Muskeln und Hyperreflexie in den unteren Extremitäten mit Babinski-Zeichen) gekennzeichnet ist, die mit der Paget-Knochenkrankheit einhergeht. Kognitiver Verfall, Demenz und myopathische Veränderungen bei der Muskelbiopsie wurden nicht berichtet."},"es":{"name":"Síndrome de paraplejía espástica-enfermedad ósea de Paget","definition":"El síndrome de paraplejia espástica-enfermedad ósea de Paget es una forma compleja y rara de paraplejia espástica hereditaria caracterizada por paraplejia espástica de progresión lenta (con aumento del tono muscular, disminución de la fuerza en los músculos tibiales anteriores e hiperreflexia en las extremidades inferiores con signo de Babinski) de inicio en la edad adulta, asociado con la enfermedad ósea de Paget. No se ha descrito deterioro cognitivo, demencia o cambios miopáticos en biopsias musculares."},"it":{"name":"Paraplegia spastica - malattia ossea di Paget","definition":"La sindrome da paraplegia spastica con malattia ossea di Paget è una forma complessa estremamente rara di paraplegia spastica; è caratterizzata da paraplegia spastica a progressione lenta (che si manifesta con aumento del tono muscolare, diminuzione della forza dei muscoli tibiali anteriori e iper-reflessia degli arti inferiori con segno di Babinski) ad esordio nell'età adulta, associata alla malattia ossea di Paget. Non sono presenti né demenza, né alterazioni miopatiche sulle biopsie muscolari."},"nl":{"name":"Spastische paraplegie - botziekte van Paget-syndroom","definition":"Spastische paraplegie - botziekte van Paget-syndroom is een uiterst zeldzame, complexe vorm van erfelijke spastische paraplegie die gekarakteriseerd wordt door een traag progressieve spastische paraplegie (met verhoogde spiertonus, afgenomen kracht in de voorste scheenbeenspieren en hyperreflexie van de onderste ledematen met teken van Babinski) met aanvang in de volwassenheid, geassocieerd met botziekte van Paget. Cognitief verval, dementie en myopathische veranderingen bij een spierbiopsie werden niet gerapporteerd."},"pt":{"name":"Síndrome de paraplegia espástica-doença de Paget do osso"},"pl":{"name":"Paraplegia spastyczna - choroba Pageta kości"},"cs":{"name":"Syndrom zahrnující spastickou paraplegii a Pagetovu nemoc kostí"},"uk":{"name":"Синдром спастичної параплегії-хвороби Педжета","definition":"Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported."},"zh":{"name":"痉挛性截瘫-Paget病骨综合征","definition":"痉挛性截瘫-骨Paget病综合征是一种极为罕见的遗传性痉挛性截瘫的复杂形式，其特征为缓慢进行性痉挛性截瘫（肌张力增高，胫前肌力量下降，下肢反射亢进伴有巴宾斯基征），与骨的Paget病有关。认知功能下降、痴呆和肌肉活检时的肌病性改变尚未报道。"},"tr":{"name":"Spastik parapleji-kemik sendromunun Paget hastalığı"}},"xrefs":[{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018005","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511969","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100979,"name":"Autosomal dominant complex spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"VCP","name":"valosin containing protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22991237[PMID]","hgnc":"12666","ensembl":"ENSG00000165280","omim":"601023","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"22991237[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-08","source":"22991237[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004563","label":"Increased spinal bone density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007289","label":"Limb fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001308","label":"Tongue fasciculations","frequency":"Frequent (79-30%)","criteria":null}]}}