{"orpha":401849,"name":"Autosomal spastic paraplegia type 72","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG72"],"definition":"A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401849/","orphanet_url":"https://www.orpha.net/en/disease/detail/401849","names":{"fr":{"name":"Paraplégie spastique autosomique type 72","synonyms":["SPG72"],"definition":"Paraplégie spastique héréditaire pure rare, d'origine génétique, caractérisée par l'apparition pendant la petite enfance d'une paraparésie spastique du muscle crural à progression lente, se manifestant par une démarche spastique, une légère rigidité au repos, une hyperréflexie (dans les membres inférieurs), un signe de Babinski positif et, dans certains cas, de légers tremblements posturaux, des pieds creux, un dysfonctionnement des sphincters et une perte de la sensibilité au niveau des chevilles."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 72","synonyms":["SPG72"]},"es":{"name":"Paraplejía espástica autosómica tipo 72","synonyms":["SPG72"],"definition":"Es un trastorno de paraplejía espástica hereditaria pura, genético y poco frecuente, caracterizado por el inicio en la infancia temprana de paraplejía espástica crural lentamente progresiva que se presenta con marcha espástica, leve rigidez en reposo, hiperreflexia (en miembros inferiores), reflejo plantar extensor y, en algunos casos, leve temblor postural, pie cavo, alteraciones del esfínter y pérdida de sensibilidad en los tobillos."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 72","synonyms":["SPG72"],"definition":"La paraplegia spastica autosomica tipo 72 è una paraplegia spastica ereditaria pura rara, di origine genetica, che esordisce nella prima infanzia con tetraparesi spastica dei muscoli crurali a progressione lenta, andatura atassica, lieve rigidità a riposo, iperreflessia (agli arti inferiori), risposte plantari in estensione e, in alcuni pazienti, lieve tremore posturale, piede cavo, disfunzioni sfinteriche e perdita sensoriale nelle caviglie."},"nl":{"name":"Autosomale spastische paraplegie type 72","synonyms":["SPG72"],"definition":"Autosomale spastische paraplegie type 72 is een zeldzame, genetische, zuivere erfelijke spastische paraplegie die wordt gekarakteriseerd door aanvang in de vroege kindertijd van traag progressieve crurale spastische paraparese, en die zich presenteert met spastische gang, milde stijfheid in rust, hyperreflexie (in de onderste ledematen), pathologische voetzoolreflexen en, bij sommigen, milde posturale tremor, holvoet, sfincterstoornissen en zintuiglijk verlies ter hoogte van de enkels."},"pt":{"name":"Paraplegia espástica autossómica tipo 72","synonyms":["SPG72"]},"pl":{"name":"Autosomalna paraplegia spastyczna typu 72","synonyms":["SPG72"],"definition":"*Autosomalna paraplegia spastyczna typu 72 jest rzadką, genetycznie uwarunkowaną, dziedziczną paraplegią spastyczną, która charakteryzuje powoli postępującym spastycznym porażeniem podudzi o początku we wczesnym dzieciństwie, co skutkuje spastycznym chodem, niewielką sztywnością spoczynkową, wygórowaniem odruchów (w kończynach dolnych), obecnością objawu Babińskiego, a u niektórych chorych łagodnym drżeniem ciała, stopą wydrążoną, zaburzeniami funkcji zwieraczy i utratą czucia w kostkach."},"cs":{"name":"Autozomální spastická paraplegie, typ 72","synonyms":["SPG72"]},"uk":{"name":"Аутосомна спастична параплегія, тип 72","synonyms":["SPG72"],"definition":"A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles."},"zh":{"name":"常染色体痉挛性截瘫72型","synonyms":["SPG72"],"definition":"痉挛性截瘫72型一种罕见的遗传性疾病，该单纯型遗传性痉挛性截瘫主要表现为儿童早期发作的进展缓慢的痉挛性轻瘫合并痉挛步态，休息时轻度僵硬，下肢反射亢进，巴氏征阳性，轻度震颤，高足弓，括约肌干扰，脚踝感觉减退"},"tr":{"name":"Otozomal spastik parapleji tip 72","synonyms":["SPG72"]}},"xrefs":[{"source":"OMIM","code":"615625","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.00","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014282","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3810160","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100980,"name":"Autosomal dominant pure spastic paraplegia","classifications":[156,181]},{"orpha":100982,"name":"Autosomal recessive pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"REEP2","name":"receptor accessory protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24388663[PMID]","hgnc":"17975","ensembl":"ENSG00000132563","omim":"609347","loci":["5q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"24388663[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24388663[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-23","source":"24388663[PMID]","terms":[{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011446","label":"Abnormality of higher mental function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006938","label":"Impaired vibration sensation at ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null}]}}