{"orpha":401800,"name":"Autosomal recessive spastic paraplegia type 60","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG60"],"definition":"Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401800/","orphanet_url":"https://www.orpha.net/en/disease/detail/401800","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 60","synonyms":["SPG60"],"definition":"Paraplégie spastique héréditaire complexe rare caractérisée par l'apparition, pendant la petite enfance, d'une spasticité progressive des membres inférieurs, d'une incapacité à marcher, d'une hypertonie et d'une altération du sens vibratoire au niveau des chevilles, avec des signes de complications tels que des troubles sensitifs, un nystagmus, une neuropathie axonale motrice et une légère déficience intellectuelle."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 60","synonyms":["SPG60"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 60","synonyms":["SPG60"],"definition":"Es una paraplejía espástica hereditaria compleja poco frecuente. Está caracterizada por el inicio en la lactancia de espasticidad progresiva en las extremidades inferiores, incapacidad para caminar, hipertonía y alteración de la sensibilidad de vibratoria en los tobillos, con signos de complicación que incluyen deterioro sensitivo, nistagmo, neuropatía axonal motora y discapacidad intelectual leve."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 60","synonyms":["SPG60"],"definition":"La paraplegia spastica autosomica recessiva tipo 60 è una paraplegia spastica ereditaria complessa rara, che esordisce nella prima infanzia con spasticità progressiva degli arti inferiori, incapacità di deambulare, ipertonia e compromissione del senso della vibrazione nelle caviglie, a cui si associano altri segni che complicano la malattia, come il deficit sensoriale, il nistagmo, la neuropatia assonale motoria e la disabilità intellettiva lieve."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 60","synonyms":["SPG60"],"definition":"Autosomaal recessieve spastische paraplegie type 60 is een zeldzame, complexe erfelijke spastische paraplegie die gekarakteriseerd wordt door infantiele aanvang van progressieve spasticiteit van de onderste ledematen, onvermogen om te stappen, hypertonie en verstoorde zintuiglijke waarneming van vibratie ter hoogte van de enkel, met complicerende tekenen zoals sensorische stoornis, nystagmus, motorische axonale neuropathie en milde intellectuele achterstand."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 60"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 60","synonyms":["SPG60"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 60 jest rzadką, złożoną, dziedziczną paraplegią spastyczną, która charakteryzuje spastycznością kończyn dolnych o początku w wieku niemowlęcym, unieruchomieniem, wzmożonym napięciem mięśniowym i upośledzeniem czucia wibracji w okolicy stawów skokowych oraz objawami dodatkowymi, które obejmują zaburzenia czucia, oczopląs, aksonalną neuropatię ruchową oraz łagodną niepełnosprawność intelektualna."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 60","synonyms":["SPG60"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 60","synonyms":["SPG60"],"definition":"Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫60型","synonyms":["SPG60"],"definition":"常染色体隐性遗传性痉挛性截瘫60型是一种罕见的复杂遗传性痉挛性截瘫疾病，以婴儿期起病的进行性下肢痉挛、行走不能、肌张力亢进和踝关节振动觉受损为特征，伴有感觉障碍、眼球震颤、运动轴突神经病和轻度智能障碍等复杂体征."},"tr":{"name":"Otozomal resesif spastik parapleji tip 60","synonyms":["SPG60"]}},"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":"0018417","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190589","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"21696","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":"WDR48","name":"WD repeat domain 48","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"30914","ensembl":"ENSG00000114742","omim":"612167","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"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:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"}]}}