{"orpha":401840,"name":"Autosomal recessive spastic paraplegia type 71","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG71"],"definition":"A type of autosomal recessive pure hereditary spastic paraplegia characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401840/","orphanet_url":"https://www.orpha.net/en/disease/detail/401840","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 71","synonyms":["SPG71"],"definition":"Paraplégie spastique héréditaire pure rare, d'origine génétique, caractérisée par l'apparition dans la petite enfance d'une parésie spastique crurale avec une démarche en ciseaux, un signe de Babinski positif et une augmentation des réflexes tendineux. La neuro-imagerie révèle un corps calleux fin et l'électromyographie et l'étude de vitesse de la conduction nerveuse sont normales."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 71","synonyms":["SPG71"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 71","synonyms":["SPG71"],"definition":"Es un trastorno de paraplejía espástica hereditaria pura, genético y poco frecuente, caracterizado por el inicio en la lactancia de paraplejía espástica crural con marcha en tijeras, respuesta plantar extensora y reflejos tendinosos exaltados. La neuroimagen revela adelgazamiento del cuerpo calloso mientras que los estudios de velocidad de conducción nerviosa y la electromiografía son normales."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 71","synonyms":["SPG71"],"definition":"La paraplegia spastica autosomica recessiva tipo 71 è una paraplegia spastica ereditaria pura rara, di origine genetica, che esordisce nell'infanzia con tetraparesi spastica dei muscoli crurali, associata ad andatura con gambe a forbice, risposte plantari in estensione ed aumento dei riflessi tendinei. Le neuroimmagini evidenziano un assottigliamento del corpo calloso, mentre è normale l'elettromiografia e la velocità di conduzione dei nervi."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 71","synonyms":["SPG71"],"definition":"Autosomaal recessieve spastische paraplegie type 71 is een zeldzame, genetische, zuivere erfelijke spastische paraplegie die wordt gekarakteriseerd door aanvang in de zuigelingentijd van crurale spastische paraparese met schaargang, pathologische voetzoolreflexen, en verhoogde peesreflexen. Neurologische beeldvorming toont een dun corpus callosum, en elektromyografie en studies van de zenuwgeleidingssnelheden zijn normaal."},"pt":{"name":"Paraplegia espástica autossómica recessiva, tipo 71"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 71","synonyms":["SPG71"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 71 jest rzadką, genetycznie uwarunkowaną, dziedziczną paraplegią spastyczną, która charakteryzuje się paraparezę spastyczną podudzi o początku w okresie niemowlęcym, chodem nożycowym, obecnością objawu Babińskiego i wygórowaniem odruchów ścięgnistych. Neuroobrazowanie uwidacznia ścieńczałe ciało modzelowate, natomiast elektromiografia i szybkości przewodzenia nerwów są prawidłowe."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 71","synonyms":["SPG71"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 71","synonyms":["SPG71"],"definition":"A type of autosomal recessive pure hereditary spastic paraplegia characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫71型","synonyms":["SPG71"],"definition":"常染色体隐性遗传的痉挛性截瘫71型是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婴儿期发作的痉挛性轻瘫、剪刀步态、跖伸肌反应以及腱反射亢进。神经影像检查可提示胼胝体变薄，肌电图查神经传导速度可正常。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 71","synonyms":["SPG71"]}},"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":"0018423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190578","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100982,"name":"Autosomal recessive pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ZFR","name":"zinc finger RNA binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"17277","ensembl":"ENSG00000056097","omim":"615635","loci":["5p13.3"]}],"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:0012447","label":"Abnormal myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","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:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","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:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Excluded (0%)","criteria":null}]}}