{"orpha":320396,"name":"Autosomal recessive spastic paraplegia type 45","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spastic paraplegia type 65","SPG45","SPG65"],"definition":"Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320396/","orphanet_url":"https://www.orpha.net/en/disease/detail/320396","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 45","synonyms":["Paraplégie spastique autosomique récessive type 65","SPG45","SPG65"],"definition":"Forme rare, pure ou complexe de paraplégie spastique héréditaire caractérisée par l'apparition dans la petite enfance d'une spasticité progressive des membres inférieurs, d'une démarche anormale, d'une augmentation des réflexes tendineux profonds et d'un signe de Babinski positif, qui peut être associée à une déficience intellectuelle. D'autres signes, tels que des contractures des membres inférieurs, une amyotrophie, un pied bot et une atrophie optique, ont également été rapportés."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 45","synonyms":["SPG45","SPG65","Spastische Paraplegie, autosomal-rezessive, Typ 65"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 45 ist eine seltene, reine oder komplexe Form der hereditären spastischen Paraplegie. Sie ist gekennzeichnet durch im Kindesalter beginnende progressive Spastik der unteren Gliedmaßen, Gangstörungen, erhöhte tiefe Sehnenreflexe und extensorische Plantarreflexe. Sie kann mit Intelligenzminderung einhergehen und zusätzliche Merkmale wie Kontrakturen der unteren Gliedmaßen, Amyotrophie, Klumpfuß und Optikusatrophie sind beschrieben worden."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 45","synonyms":["Paraplejía espástica autosómica recesiva tipo 65","SPG45","SPG65"],"definition":"La paraplejía espástica autosómica recesiva tipo 45, es una forma pura o compleja de paraplejía espástica hereditaria poco frecuente. Está caracterizada por el inicio en la lactancia de espasticidad progresiva de miembros inferiores, marcha anómala, incremento de los reflejos osteotendinosos y respuestas plantares extensoras, que se puede asociar a discapacidad intelectual. También se han descrito signos adicionales, tales como contracturas en las extremidades inferiores, amiotrofia, pie zambo y atrofia óptica."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 45","synonyms":["Paraplegia spastica autosomica recessiva, tipo 65","SPG45","SPG65"],"definition":"La paraplegia spastica autosomica recessiva tipo 45 è una forma rara, pura o complessa, di paraplegia spastica ereditaria, che esordisce nel periodo neonatale con spasticità progressiva degli arti inferiori, anomalie dell'andatura, aumento dei riflessi tendinei profondi e risposte plantari in estensione, talvolta associati a disabilità intellettiva. Possono associarsi altri segni clinici, che comprendono le contratture negli arti inferiori, l'amiotrofia, i piedi torti e l'atrofia ottica."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 45","synonyms":["Autosomaal recessieve spastische paraplegie type 65","SPG45","SPG65"],"definition":"Autosomaal recessieve spastische paraplegie type 45 is een zeldzame, zuivere of complexe vorm van erfelijke spastische paraplegie die gekarakteriseerd wordt door aanvang in de zuigelingentijd van progressieve spasticiteit in de onderste ledematen, abnormale gang, verhoogde diepe peesreflexen en voetzoolreflexen in extensie, die geassocieerd kunnen zijn met intellectuele achterstand. Bijkomende tekenen, zoals contracturen in de onderste ledematen, amyotrofie, klompvoet en opticusatrofie, werden ook reeds gerapporteerd."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 45"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 45","synonyms":["Autosomalna recesywna paraplegia spastyczna typu 65","SPG45","SPG65"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 45 jest rzadką, izolowaną lub złożoną postacią dziedzicznej paraplegii spastycznej, która charakteryzuje się początkiem choroby w okresie niemowlęcym, postępującą spastycznością kończyn dolnych, nieprawidłowym chodem, wzmożonymi odruchami głębokimi (ścięgnistymi) i podeszwowymi; może towarzyszyć niepełnosprawność intelektualna. Opisywano również dodatkowe objawy, takie jak przykurcze kończyn dolnych, zanik mięśni, stopy końsko-szpotawe i zanik nerwu wzrokowego."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 45","synonyms":["SPG45","SPG65","Autozomálně recesivní spastická paraplegie, typ 65"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 45","synonyms":["Аутосомно-рецесивна спастична параплегія типу 65","SPG45","SPG65"],"definition":"Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫45型","synonyms":["常染色体隐性遗传痉挛性截瘫65型"],"definition":"常染色体隐性痉挛性截瘫45型是一种罕见的、单纯的或复杂的遗传性痉挛性截瘫，其特征是在婴儿期出现进行性下肢痉挛、步态异常、深部腱反射和足底伸肌反应增加，可能伴有智力障碍。还报道了其他症状，如下肢挛缩、肌萎缩、马蹄内翻足和视神经萎缩。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 45","synonyms":["SPG45","SPG65","Otozomal çekinik spastik parapleji tip 65"]}},"xrefs":[{"source":"OMIM","code":"613162","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013165","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888209","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17477","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320346,"name":"Pure or complex autosomal recessive spastic paraplegia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NT5C2","name":"5'-nucleotidase, cytosolic II","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"8022","ensembl":"ENSG00000076685","omim":"600417","loci":["10q24.32-q24.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"28884889[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28884889[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-07","source":"19415352[PMID]","terms":[{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005830","label":"Flexion contracture of toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012043","label":"Pendular nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}