{"orpha":320406,"name":"Spastic paraplegia-optic atrophy-neuropathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPOAN"],"definition":"A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320406/","orphanet_url":"https://www.orpha.net/en/disease/detail/320406","names":{"fr":{"name":"Syndrome paraplégie spastique-atrophie optique-neuropathie","synonyms":["Paraplégie spastique autosomique récessive type 68","SPG68","SPOAN"],"definition":"Forme rare et complexe de paraplégie spastique héréditaire. Il se caractérise par une paraplégie spastique progressive se manifestant pendant la petite enfance, associée à une atrophie optique, un nystagmus de fixation, une polyneuropathie survenant en fin d'enfance/début d'adolescence et conduisant à un handicap moteur sévère, ainsi que des contractures articulaires progressives et une scoliose."},"de":{"name":"Spastische Paraplegie-Optikusatrophie-Neuropathie-Syndrom","synonyms":["SPOAN"],"definition":"Eine seltene komplexe Form der hereditären spastischen Paraplegie, die durch eine früh einsetzende progressive spastische Paraplegie gekennzeichnet ist, die sich im Säuglingsalter manifestiert und mit Optikusatrophie, Fixationsnystagmus und Polyneuropathie einhergeht, die in der späten Kindheit/frühen Jugend auftritt und zu schweren motorischen Einschränkungen und progressiven Gelenkkontrakturen und Skoliose führt."},"es":{"name":"Síndrome de paraplejía espástica-atrofia óptica-neuropatía","synonyms":["SPOAN"],"definition":"Es un tipo poco frecuente y complejo de paraplejía espástica hereditaria caracterizado por paraplejía espástica progresiva que se presenta en la lactancia, asociada a atrofia óptica, nistagmo de fijación y polineuropatía que aparece en la infancia tardía / adolescencia temprana conllevando discapacidades motoras graves, contracturas progresivas de las articulaciones y escoliosis."},"it":{"name":"Sindrome paraplegia spastica-atrofia ottica-neuropatia","synonyms":["SPOAN"],"definition":"La sindrome paraplegia spastica-atrofia ottica-neuropatia è una paraplegia spastica ereditaria complessa rara, caratterizzata da paraplegia spastica progressiva ad esordio infantile, associata ad atrofia ottica, nistagmo da fissazione, polineuropatia ad esordio nella tarda infanzia/prima adolescenza, con conseguente grave disabilità motoria, contratture articolari progressive e scoliosi."},"nl":{"name":"Spastische paraplegie - opticusatrofie - neuropathie-syndroom","synonyms":["SPOAN"],"definition":"Een zeldzaam complex type van hereditaire spastische paraplegie, gekenmerkt door vroeg optredende progressieve spastische paraplegie die zich presenteert in de zuigelingentijd, geassocieerd met opticusatrofie, fixatienystagmus, polyneuropathie in de late kindertijd/vroege adolescentie die leidt tot ernstige motorische beperking en progressieve gewrichtscontracturen en scoliose."},"pt":{"name":"Síndrome de paraplegia espástica-atrofia óptica-neuropatia"},"pl":{"name":"Zespół paraplegia spastyczna-zanik nerwu wzrokowego-neuropatia","synonyms":["SPOAN"]},"cs":{"name":"Syndrom zahrnující spastickou paraplegii, atrofii optiku a neuropatii","synonyms":["SPOAN"]},"uk":{"name":"Синдром спастичної параплегії - атрофії зорового нерва - нейропатії","synonyms":["SPOAN"],"definition":"A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis."},"zh":{"name":"痉挛性截瘫-视神经萎缩-神经病综合征","synonyms":["SPOAN综合征"],"definition":"痉挛性截瘫-视神经萎缩-神经病(SPOAN)综合征是一种罕见的复杂类型的遗传性痉挛性截瘫，其特征是在婴儿期出现早发性进行性痉挛性截瘫，与视神经萎缩、固定性眼球震颤、发生在儿童晚期/青少年早期的多发性神经病有关，导致重度运动障碍和进行性关节挛缩和脊柱侧凸。SPOAN综合征是由编码驱动蛋白轻链2的基因(11q13.1)突变引起的。"},"tr":{"name":"Spastik parapleji-optik atrofi-nöropati sendromu","synonyms":["SPOAN"]}},"xrefs":[{"source":"OMIM","code":"609541","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":"0012297","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563702","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836010","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":401825,"name":"Autosomal recessive spastic paraplegia type 68","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":431320,"name":"Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder","classifications":[156,181,189]}],"children":[],"genes":[{"symbol":"KLC2","name":"kinesin light chain 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26385635[PMID]","hgnc":"20716","ensembl":"ENSG00000174996","omim":"611729","loci":["11q13.2"]},{"symbol":"FLRT1","name":"fibronectin leucine rich transmembrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"3760","ensembl":"ENSG00000126500","omim":"604806","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":75.0,"area":"Worldwide","status":"Validated","source":"26385635[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26385635[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-26","source":"15852396[PMID]_19344448[PMID]","terms":[{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003380","label":"Decreased number of peripheral myelinated nerve fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002267","label":"Exaggerated startle response","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007054","label":"Hyperreflexia proximally","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002600","label":"Hyporeflexia of lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null}]}}