{"orpha":401820,"name":"Autosomal recessive spastic paraplegia type 67","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG67"],"definition":"Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401820/","orphanet_url":"https://www.orpha.net/en/disease/detail/401820","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 67","synonyms":["SPG67"],"definition":"Une paraplégie spastique héréditaire complexe extrêmement rare, caractérisée par l'apparition, pendant la petite enfance ou l'enfance, d'un retard de développement global et d'une spasticité progressive associée à des tremblements au niveau des membres distaux, des réflexes tendineux profonds et des réponses plantaires d'extension accrus, et dans certains cas, un léger déficit intellectuel. Les signes additionnels incluent une fonte musculaire et des anomalies cérébelleuses."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 67","synonyms":["SPG67"],"definition":"Eine extrem seltene, komplexe hereditäre spastische Paraplegie, die durch eine im Säuglings- oder Kindesalter einsetzende globale Entwicklungsverzögerung und eine progressive Spastik mit Tremor in den distalen Gliedmaßen, erhöhten tiefen Sehnenreflexen und extensorischen Plantarreflexen gekennzeichnet ist, die mit einer leichten Intelligenzminderung einhergehen können. Zusätzliche Merkmale sind Muskelschwund und Kleinhirnanomalien."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 67","synonyms":["SPG67"],"definition":"Es una paraplejía espástica hereditaria compleja extremadamente infrecuente caracterizada por el inicio en la lactancia o en la infancia de retraso global del desarrollo y espasticidad progresiva con temblor en las extremidades distales, aumento de los reflejos tendinosos profundos y respuestas plantares extensoras, que pueden estar asociadas a leve discapacidad intelectual. Otras características adicionales incluyen atrofia muscular y anomalías cerebelosas."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 67","synonyms":["SPG67"],"definition":"La paraplegia spastica autosomica recessiva tipo 67 è una paraplegia spastica ereditaria complessa molto rara, ad esordio neonatale o durante l'infanzia, con ritardo dello sviluppo globale, spasticità progressiva con tremore distale negli arti, aumento dei riflessi tendinei profondi e delle risposte plantari in estensione e, in alcuni pazienti, lieve disabilità intellettiva. Altri segni clinici sono l'atrofia muscolare e le anomalie cerebellari."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 67","synonyms":["SPG67"],"definition":"Autosomaal recessieve spastische paraplegie type 67 is een uiterst zeldzame, complexe erfelijke spastische paraplegie die wordt gekarakteriseerd door aanvang in de zuigelingentijd of kindertijd van algehele ontwikkelingsachterstand en progressieve spasticiteit met tremor in de distale ledematen, verhoogde diepe peesreflexen en voetzoolreflexen in extensie, en die mogelijk geassocieerd is met milde intellectuele achterstand. Bijkomende kenmerken zijn onder meer spieratrofie en cerebellaire afwijkingen."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 67"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 67","synonyms":["SPG67"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 67 to niezwykle rzadka, złożona dziedziczna paraplegia spastyczna charakteryzująca się początkiem w niemowlęctwie lub dzieciństwie, globalnym opóźnieniem rozwoju i postępującą spastycznością z drżeniem w dystalnych odcinkach kończyn dolnych, wzmożonymi głębokimi odruchami ścięgnistymi i ze strony prostowników podeszwowych, którym może towarzyszyć łagodna niepełnosprawność intelektualna. Dodatkowymi objawami są zaniki mięśni i nieprawidłowości móżdżku."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 67","synonyms":["SPG67"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 67","synonyms":["SPG67"],"definition":"Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫67型","synonyms":["SPG67"],"definition":"常染色体隐性遗传性痉挛性截瘫67型是一种极为罕见的复杂遗传性痉挛性截瘫，其特征是婴儿期或儿童期出现全面发育迟缓和进行性痉挛，四肢远端震颤，深反射亢进和足底伸肌反应增强，这可能与轻度智能障碍有关。本病的其他特征包括肌肉萎缩和小脑异常。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 67","synonyms":["SPG67"]}},"xrefs":[{"source":"OMIM","code":"615802","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":"0018419","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707829","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"21698","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]},{"orpha":309515,"name":"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PGAP1","name":"post-GPI attachment to proteins inositol deacylase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"25712","ensembl":"ENSG00000197121","omim":"611655","loci":["2q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"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:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006817","label":"Aplasia/Hypoplasia of the cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Frequent (79-30%)","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:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200085","label":"Limb tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","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}]}}