{"orpha":2822,"name":"Autosomal recessive spastic paraplegia type 11","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Nakamura-Osame syndrome","SPG11","Spastic paraplegia-intellectual disability-thin corpus callosum syndrome"],"definition":"A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2822/","orphanet_url":"https://www.orpha.net/en/disease/detail/2822","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 11","synonyms":["SPG11","Syndrome de Nakamura-Osame","Syndrome de paraplégie spastique-déficience intellectuelle-corps calleux fin"],"definition":"Paraplégie spastique héréditaire complexe caractérisée par une faiblesse et une spasticité progressives des membres inférieurs, une faiblesse des membres supérieurs, une dysarthrie, une hypomimie, un dysfonctionnement des sphincters, une neuropathie périphérique, des troubles d'apprentissage, des troubles cognitifs et une démence. L'imagerie par résonance magnétique met en évidence un corps calleux fin, une atrophie cérébrale et des changements de la substance blanche périventriculaire."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 11","synonyms":["Nakamura-Osame-Syndrom","SPG11","Spastische Paraplegie-Intelligenzminderung-dünnes Corpus callosum-Syndrom"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 11","synonyms":["SPG11","Síndrome de Nakamura-Osame","Síndrome de paraparesia espástica-discapacidad intelectual-adelgazamiento del cuerpo calloso","Síndrome de paraplejía espástica-discapacidad intelectual-cuerpo calloso delgado"],"definition":"Es una paraplejía espástica hereditaria compleja caracterizada por debilidad y espasticidad progresivas en las extremidades inferiores, debilidad en las extremidades superiores, disartria, hipomimia, trastornos esfinterianos, neuropatía periférica, dificultades de aprendizaje, deterioro cognitivo y demencia. La resonancia magnética muestra un cuerpo calloso delgado, atrofia cerebral y cambios en la sustancia blanca periventricular."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 11","synonyms":["Sindrome paraplegia spastica-disabilità intellettiva-corpo calloso sottile","SPG11","Sindrome di Nakamura-Osame"],"definition":"È una paraplegia spastica ereditaria complessa, caratterizzata da debolezza e spasticità progressive degli arti inferiori, debolezza degli arti superiori, disartria, ipomimia, disfunzione degli sfinteri, neuropatia periferica, difficoltà di apprendimento, deficit cognitivo e demenza. La risonanza magnetica evidenzia assottigliamento del corpo calloso, atrofia cerebrale e alterazioni della sostanza bianca periventricolare."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 11","synonyms":["SPG11","Spastische paraplegie - intellectuele achterstand - dun corpus callosum-syndroom","Syndroom van Nakamura-Osame"],"definition":"Een complexe, erfelijke, spastische paraplegie die gekarakteriseerd wordt door progressieve zwakte en spasticiteit van de onderste ledematen, zwakheid van de bovenste ledematen, dysartrie, hypomimie, sluitspierstoornissen, perifere neuropathie, leermoeilijkheden, cognitieve beperking en dementie. Beeldvorming met magnetische resonantie toont een dun corpus callosum, cerebrale atrofie, en veranderingen van periventriculaire witte stof."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 11","synonyms":["SPG11","Síndrome Nakamura-Osame","Síndrome de paraplegia espástica-perturbação do desenvolvimento intelectual-corpo caloso fino"]},"pl":{"name":"Autosomala recesywna paraplegia spastyczna typu 11","synonyms":["Paraplegia spastyczna - niepełnosprawność intelektualna - cienkie ciało modzelowate","SPG11","Zespół Nakamura i Osame"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 11","synonyms":["SPG11","Syndrom zahrnující spastickou paraplegii, mentální retardaci a tenké corpus callosum","Nakamuraův-Osameův syndrom","Nakamura-Osameův syndrom"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 11","synonyms":["Синдром Накамура-Осаме","Синдром спастичної параплегії - інтелектуальної недостатності - тонкого мозолистого тіла","SPG11"],"definition":"A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes."},"zh":{"name":"常染色体隐性痉挛性截瘫11型","synonyms":["痉挛性截瘫-智力障碍-薄胼胝体综合征"]},"tr":{"name":"Otozomal resesif spastik parapleji tip 11","synonyms":["SPG11","Nakamura-Osame sendromu","Spastik parapleji-zihinsel yetersizlik-ince korpus kallozum sendromu"]}},"xrefs":[{"source":"OMIM","code":"604360","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":"2049927049"},{"source":"MONDO","code":"0011445","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538335","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931821","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4919","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2168,"name":"Homocarnosinosis","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320346,"name":"Pure or complex autosomal recessive spastic paraplegia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPG11","name":"SPG11 vesicle trafficking associated, spatacsin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19105190[PMID]_17322883[PMID]","hgnc":"11226","ensembl":"ENSG00000104133","omim":"610844","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"Portugal","status":"Validated","source":"23609960[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-07","source":"32355960[PMID]_32593884[PMID]_20301389[PMID]","terms":[{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030455","label":"Abnormality of pattern visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003482","label":"EMG: axonal abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006913","label":"Frontal cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045007","label":"Abnormality of the substantia nigra","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007183","label":"Focal T2 hyperintense basal ganglia lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009055","label":"Generalized limb muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025058","label":"Hypothalamic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}