{"orpha":100995,"name":"Autosomal recessive spastic paraplegia type 14","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG14"],"definition":"Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100995/","orphanet_url":"https://www.orpha.net/en/disease/detail/100995","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 14","synonyms":["SPG14"],"definition":"Paraplégie spastique héréditaire complexe rare caractérisée par l'apparition à l'âge adulte d'une paraplégie spastique lentement progressive des membres inférieurs, accompagnée d'une démarche spastique, d'une hyperréflexie et d'une légère hypertonie des membres inférieurs associée à une déficience intellectuelle légère, une agnosie visuelle, un déficit de la mémoire à court et à long terme et une neuropathie motrice distale légère. Un pes cavus bilatéral et un signe de Babinski positif sont également associés."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 14","synonyms":["SPG14"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 14","synonyms":["SPG14"],"definition":"Es una paraplejía espástica hereditaria compleja y poco frecuente caracterizada por paraplejía espástica de inicio en la edad adulta y de progresión lenta que se manifiesta en forma de marcha espástica, hiperreflexia y leve hipertonicidad de las extremidades inferiores asociada a leve discapacidad intelectual, agnosia visual, pérdida de memoria a corto y largo plazo y leve neuropatía motora distal. También se asocia a pie cavo bilateral y reflejo plantar extensor."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 14","synonyms":["SPG14"],"definition":"La paraplegia spastica autosomica recessiva tipo 14 è una malattia ereditaria complessa rara, che esordisce nell'età adulta con paraplegia spastica a progressione lenta degli arti inferiori. I segni clinici comprendono l'andatura spastica, l'iperreflessia e il modesto ipertono degli arti inferiori, associati a disabilità intellettiva lieve, agnosia visiva, deficit della memoria a breve e lungo termine e lieve neuropatia motoria distale. Inoltre, i pazienti presentano piede cavo e risposte plantari in estensione."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 14","synonyms":["SPG14"],"definition":"Autosomaal recessieve spastische paraplegie type 14 is een zeldzame, complexe, erfelijke spastische paraplegie die gekarakteriseerd wordt door aanvang in de volwassenheid van traag progressieve spastische paraplegie van de onderste ledematen met spastische gang tot gevolg, hyperreflexie, en milde hypertoniciteit van de onderste ledematen, geassocieerd met milde intellectuele achterstand, visuele agnosie, deficiëntie van korte- en langetermijngeheugen, en milde distale motorische neuropathie. Bilaterale pes cavus (holvoet) en pathologische voetzoolreflexen zijn ook geassocieerd."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 14","synonyms":["SPG14"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 14","synonyms":["SPG14"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 14","synonyms":["SPG14"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 14","synonyms":["SPG14"],"definition":"Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫14型","synonyms":["SPG14"],"definition":"常染色体隐性痉挛性截瘫14型是一种罕见的复杂遗传性痉挛性截瘫，以成年后缓慢进行性的下肢痉挛性截瘫为特征，表现为步态痉挛、反射亢进和轻度下肢高张力，伴有轻度智力障碍、视觉失认、短期和长期记忆缺陷和轻度远端运动神经病。双侧高弓足和足底伸肌反应也是相关的。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 14","synonyms":["SPG14"]}},"xrefs":[{"source":"OMIM","code":"605229","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":"index","validated":true,"icd11_uri":"1304184567"},{"source":"MONDO","code":"0011522","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537486","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854568","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9589","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]}],"children":[],"genes":[{"symbol":"SPG14","name":"spastic paraplegia 14 (autosomal recessive)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"13730","ensembl":null,"omim":null,"loci":["3q27-q28"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"10877981[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10877981[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-12","source":"10877981[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null}]}}