{"orpha":401795,"name":"Autosomal recessive spastic paraplegia type 59","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG59"],"definition":"A rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401795/","orphanet_url":"https://www.orpha.net/en/disease/detail/401795","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 59","synonyms":["SPG59"],"definition":"Paraplégie spastique héréditaire complexe rare caractérisée par l'apparition précoce d'une spasticité progressive des membres inférieurs, une marche sur la pointe des pieds, une démarche en ciseaux, une hyperréflexie et un clonus, potentiellement associés à une déficience intellectuelle limite. Des cas de nystagmus et de pied bot varus équin ont également été rapportés."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 59","synonyms":["SPG59"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 59","synonyms":["SPG59"],"definition":"Es una paraplejía espástica hereditaria compleja muy poco frecuente caracterizada por un inicio temprano de espasticidad progresiva en las extremidades inferiores, marcha en puntillas, marcha en tijera, hiperreflexia y clonus, que puede estar asociada a discapacidad intelectual límite. También se han descrito nistagmo y pie equinovaro."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 59","synonyms":["SPG59"],"definition":"La paraplegia spastica autosomica recessiva tipo 59 è una paraplegia spastica ereditaria complessa molto rara, caratterizzata da spasticità progressiva degli arti inferiori ad esordio precoce, andatura sulla punta dei piedi con ''gambe a forbice'', iperreflessia e clonie. Può associarsi a disabilità intellettiva borderline, nistagmo e piedi equino-vari."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 59","synonyms":["SPG59"],"definition":"Autosomaal recessieve spastische paraplegie type 59 is een zeer zeldzame, complexe erfelijke spastische paraplegie die gekarakteriseerd wordt door een vroege aanvang van progressieve spasticiteit in de onderste ledematen, op de tippen lopen, schaargang, hyperreflexie en clonus, die geassocieerd kunnen zijn met marginale intellectuele achterstand. Nystagmus en pes equinovarus werden ook reeds gerapporteerd."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 59"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 59","synonyms":["SPG59"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 59","synonyms":["SPG59"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 59","synonyms":["SPG59"],"definition":"A rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫59型","synonyms":["SPG59"],"definition":"常染色体隐性遗传性痉挛性截瘫59型是一种非常罕见的、复杂的遗传性痉挛性截瘫，其特征是早期出现进行性下肢痉挛、趾尖行走、剪刀步态、反射亢进和阵挛，可能与边缘性智力残疾有关。眼球震颤和马蹄内翻足在本病中也有报道。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 59","synonyms":["SPG59"]}},"xrefs":[{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018416","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750857","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"21695","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"USP8","name":"ubiquitin specific peptidase 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"12631","ensembl":"ENSG00000138592","omim":"603158","loci":["15q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24482476[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24482476[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-31","source":"24482476[PMID]_27271711[PMID]_27217339[PMID]_24954637[PMID]","terms":[{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Excluded (0%)","criteria":null}]}}