{"orpha":401785,"name":"Autosomal recessive spastic paraplegia type 62","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG62"],"definition":"A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401785/","orphanet_url":"https://www.orpha.net/en/disease/detail/401785","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 62","synonyms":["SPG62"],"definition":"La paraplégie spastique autosomique récessive type 62 est une forme pure ou complexe de paraplégie spastique héréditaire caractérisée par l'apparition au cours de la cinquième décennie d'une paraparésie spastique (plus proéminente au niveau des extrémités inférieures que supérieures) et d'une démarche instable, ainsi que par l'augmentation des réflexes tendineux profonds, une amyotrophie, une ataxie cérébelleuse et des contractions de flexion au niveau des genoux chez certains patients."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 62","synonyms":["SPG62"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 62 ist eine reine oder komplexe Form der hereditären spastischen Paraplegie mit Beginn im ersten Lebensjahrzehnt. Sie manifestiert sich mit spastischer Paraparese (stärker ausgeprägt in den unteren als in den oberen Extremitäten) und unsicheren Gang, sowie erhöhten tiefen Sehnenreflexen, Amyotrophie, zerebellärer Ataxie und teilweise Flexionskontrakturen der Knie."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 62","synonyms":["SPG62"],"definition":"Es una forma pura o compleja de paraplejía espástica hereditaria caracterizada por el inicio en la primera década de vida de paraparesia espástica (más evidente en las extremidades inferiores) y marcha inestable, así como un aumento de los reflejos osteotendinosos, amiotrofia, ataxia cerebelosa y contracturas de flexión de las rodillas, en algunos casos."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 62","synonyms":["SPG62"],"definition":"La paraplegia spastica autosomica recessiva tipo 62 è una forma pura o complessa di paraplegia spastica ereditaria, caratterizzata da paraparesi spastica (più marcata sugli arti inferiori rispetto a quelli superiori), andatura instabile, aumento dei riflessi tendinei profondi, amiotrofia, atassia cerebellare e, in alcuni pazienti, contratture delle ginocchia durante la flessione. L'esordio si colloca nella prima decade di vita."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 62","synonyms":["SPG62"],"definition":"Een zuivere of complexe vorm van erfelijke spastische paraplegie, gekarakteriseerd door aanvang in het eerste levensdecennium van spastische paraparese (prominenter in onderste dan in bovenste ledematen) en onvaste gang, alsook bij sommigen verhoogde diepe peesreflexen, amyotrofie, cerebellaire ataxie, en flexiecontracturen van de knieën."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 62"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 62","synonyms":["SPG62"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 62","synonyms":["SPG62"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 62","synonyms":["SPG62"],"definition":"A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫62型","synonyms":["SPG62"],"definition":"本病是遗传性痉挛性截瘫的一种单纯或复杂形式，其特征是在出生后的头十年出现痉挛性偏瘫(下肢比上肢更明显)和步态不稳，在某些情况下还可出现深反射亢进、肌萎缩、小脑性共济失调和膝盖屈曲痉挛。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 62","synonyms":["SPG62"]}},"xrefs":[{"source":"OMIM","code":"615681","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":"0014302","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4284588","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17657","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":"ERLIN1","name":"ER lipid raft associated 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"16947","ensembl":"ENSG00000107566","omim":"611604","loci":["10q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"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":"2018-05-23","source":"24482476[PMID]","terms":[{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}