{"orpha":401835,"name":"Autosomal recessive spastic paraplegia type 70","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG70"],"definition":"Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401835/","orphanet_url":"https://www.orpha.net/en/disease/detail/401835","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 70","synonyms":["SPG70"],"definition":"Un sous-type très rare et complexe de paraplégie spastique héréditaire, se manifestant dans la petite enfance par un retard du développement moteur (ramper, marcher). Il se caractérise par une spasticité des membres inférieurs, des réflexes tendineux profonds et des réponses plantaires en extension accrus, un trouble de la sensation des vibrations au niveau des chevilles, une amyotrophie et un déficit intellectuel limite. Les signes additionnels peuvent inclure des troubles de la marche, des contractures du tendon d'Achille, une scoliose et des anomalies cérébelleuses."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 70","synonyms":["SPG70"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 70","synonyms":["SPG70"],"definition":"Es un subtipo complejo de paraplejía espástica hereditaria muy poco frecuente que se presenta en la lactancia con retraso del desarrollo motor (es decir, gateo, deambulación). Está caracterizada por espasticidad de las extremidades inferiores, aumento de los reflejos tendinosos profundos, respuestas plantares extensoras, deterioro de la sensibilidad vibratoria en los tobillos, amiotrofia y discapacidad intelectual límite. Otros signos adicionales pueden incluir trastornos de la marcha, contracturas del tendón de Aquiles, escoliosis y anomalías cerebelosas."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 70","synonyms":["SPG70"],"definition":"La paraplegia spastica autosomica recessiva tipo 70 è un sottotipo complesso molto raro di paraplegia spastica ereditaria, che esordisce nel periodo neonatale con ritardo dello sviluppo motorio (gattonamento, deambulazione), spasticità degli arti inferiori, aumento dei riflessi tendinei profondi, risposte plantari in estensione, compromissione del senso della vibrazione a livello delle caviglie, amiotrofia e disabilità intellettiva borderline. Altri segni clinici sono le anomalie della deambulazione, le contratture del tendine d'Achille, la scoliosi e le anomalie cerebellari."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 70","synonyms":["SPG70"],"definition":"Autosomaal recessieve spastische paraplegie type 70 is een zeer zeldzaam, complex subtype van erfelijke spastische paraplegie dat zich presenteert in de zuigelingentijd met vertraagde motorische ontwikkeling (i.e. kruipen, stappen) en dat gekarakteriseerd wordt door spasticiteit van de onderste ledematen, verhoogde diepe peesreflexen, voetzoolreflexen in extensie, verstoorde vibratiezin ter hoogte van de enkels, amyotrofie en marginale intellectuele achterstand. Mogelijke bijkomende tekenen zijn onder meer gangstoornissen, contracturen van de achillespees, scoliose en cerebellaire anomalieën."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 70"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 70","synonyms":["SPG70"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 70 jest bardzo rzadką, złożoną, dziedziczną paraplegią spastyczną, która ujawnia się w okresie niemowlęcym opóźnionym rozwojem ruchowym (tj. raczkowaniem, chodzeniem) i charakteryzuje się wzmożonym napięciem kończyn dolnych, wygórowanymi odruchami ścięgnistymi, wzmożoną odpowiedzią prostowników podeszwy, zaburzeniami czucia wibracji w kostkach, zanikiem mięśni i graniczną niepełnosprawnością intelektualną. Dodatkowe objawy mogą obejmować zaburzenia chodu, przykurcz ścięgien Achillesa, skoliozę i nieprawidłowości móżdżku."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 70","synonyms":["SPG70"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 70","synonyms":["SPG70"],"definition":"Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫70型","synonyms":["SPG70"],"definition":"常染色体隐性遗传性痉挛性截瘫70型是一种非常罕见的遗传性痉挛性截瘫的复杂亚型，在婴儿期即出现运动发育迟缓（如爬行、行走），本病特征是下肢痉挛，深反射亢进，伸肌足底反应，踝关节振动觉受损，肌萎缩和边缘性智力障碍。本病的其他体征可包括步态障碍，跟腱挛缩，脊柱侧弯和小脑畸形。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 70","synonyms":["SPG70"]}},"xrefs":[{"source":"OMIM","code":"620323","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":"0018422","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749431","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"21700","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":"MARS1","name":"methionyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"6898","ensembl":"ENSG00000166986","omim":"156560","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"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:0012447","label":"Abnormal myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very rare (<4-1%)","criteria":null}]}}