{"orpha":171622,"name":"Autosomal recessive spastic paraplegia type 32","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG32"],"definition":"Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171622/","orphanet_url":"https://www.orpha.net/en/disease/detail/171622","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 32","synonyms":["SPG32"],"definition":"Type rare et complexe de paraplégie spastique héréditaire caractérisé par une paraplégie spastique lentement progressive (les difficultés à marcher apparaissant entre l'âge de 6 et 7&nbsp;ans) associée à une déficience intellectuelle légère. L'imagerie cérébrale révèle un corps calleux fin, une atrophie corticale et cérébelleuse et une dysraphie pontine. Le phénotype SPG32 a été localisé sur le chromosome 14q12-q21."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 32","synonyms":["SPG32"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 32 (SPG32) ist eine seltene, komplexe Form der hereditären spastischen Paraplegie, die sich durch eine langsam progrediente spastische Paraplegie (mit im Alter von 6-7 Jahren beginnenden Gangschwierigkeiten) in Verbindung mit milder intellektueller Einschränkung auszeichnet. Die Bildgebung des Gehirns weist ein dünnes Corpus Callosum, kortikale und zerebelläre Atrophie und pontine Dysraphie auf. Die Ursache des SPG32-Phänotyps wurde auf Chromosom 14q12-q21 lokalisiert."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 32","definition":"Es un tipo poco frecuente y complejo de paraplejía espástica hereditaria caracterizado por paraplejía espástica de progresión lenta (con dificultades de la marcha de inicio a los 6-7 años de edad) asociada a leve discapacidad intelectual. La neuroimagen muestra un adelgazamiento del cuerpo calloso, atrofia cortical y cerebelosa, y disrafia del tronco cerebral. El fenotipo de la enfermedad se ha mapeado en un locus del cromosoma 14q12-q21."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 32","synonyms":["SPG32"],"definition":"La paraplegia spastica autosomica recessiva tipo 32 (SPG32) è una forma rara e complessa di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica a progressione lenta (con anomalie della deambulazione che esordiscono all'età di 6-7 anni), associata a lieve disabilità cognitiva. Le immagini diagnostiche del cervello mostrano un assottigliamento del corpo calloso, atrofia corticale e cerebellare e disrafia pontina. Il fenotipo della SPG32 è stato mappato in un locus del cromosoma 14q12-q21."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 32","synonyms":["SPG32"],"definition":"Autosomaal recessieve spastische paraplegie type 32 (SPG32) is een zeldzaam, complex type van erfelijke spastische paraplegie dat gekarakteriseerd wordt door een traag progressieve spastische paraplegie (waarbij bij de aanvang rond de leeftijd van 6-7 jaar moeilijkheden met stappen verschijnen), geassocieerd met milde intellectuele achterstand. Beeldvorming van de hersenen toont een dun corpus callosum, corticale en cerebellaire atrofie, en pontiene dysrafie. Het fenotype van SPG32 werd gekoppeld aan een locus op chromosoom 14q12-q21."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 32","synonyms":["SPG32"]},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 32","synonyms":["SPG32"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 32","synonyms":["SPG32"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 32","synonyms":["SPG32"],"definition":"Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫32型","synonyms":["SPG32"],"definition":"常染色体隐性遗传性痉挛性截瘫32型（SPG32）是一种罕见的复杂性遗传性痉挛性截瘫，其主要临床表现缓慢进行性痉挛性截瘫（6-7岁开始出现行走障碍），伴有轻度智力障碍。影像学表现为胼胝体薄，皮质和小脑萎缩，脑桥神经管闭合困难。与SPG32相关的基因定位在染色体14q12-q21上。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 32","synonyms":["SPG32"]}},"xrefs":[{"source":"OMIM","code":"611252","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":"35767708"},{"source":"MONDO","code":"0012643","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566983","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970009","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12749","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]}],"children":[],"genes":[{"symbol":"SPG32","name":"spastic paraplegia 32 (autosomal recessive)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"32314","ensembl":null,"omim":null,"loci":["14q12-q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"17515546[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17515546[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-18","source":"9762694[PMID]_17515546[PMID]","terms":[{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007361","label":"Abnormality of the pons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008278","label":"Cerebellar cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","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:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007133","label":"Progressive peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null}]}}