{"orpha":401815,"name":"Autosomal recessive spastic paraplegia type 66","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG66"],"definition":"A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401815/","orphanet_url":"https://www.orpha.net/en/disease/detail/401815","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 66","synonyms":["SPG66"],"definition":"Paraplégie spastique héréditaire complexe rare caractérisée par l'apparition, pendant la petite enfance, d'une spasticité progressive des membres inférieurs, de sévères troubles de la marche entraînant la non-acquisition de la marche, d'une absence de réflexes tendineux profonds et d'une amyotrophie. Les autres signes comprennent une neuropathie sensitivo-motrice sévère, un pied bot varus équin et une légère déficience intellectuelle. Des cas d'hypoplasie cérébelleuse et du corps calleux ainsi que de colpocéphalie sont observés à l'imagerie cérébrale."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 66","synonyms":["SPG66"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 66","synonyms":["SPG66"],"definition":"Es un trastorno de paraplejía espástica hereditaria compleja poco frecuente caracterizada por el inicio en la lactancia de espasticidad progresiva de miembros inferiores, trastornos graves de la marcha que conducen a la pérdida de la deambulación, ausencia de reflejos tendinosos profundos y amiotrofia. Otros signos adicionales incluyen neuropatía sensitivo-motora severa, pie equinovaro y discapacidad intelectual leve. En las pruebas de neuroimagen se observa hipoplasia del cerebelo y del cuerpo calloso, así como una colpocefalia."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 66","synonyms":["SPG66"],"definition":"La paraplegia spastica autosomica recessiva tipo 66 è una paraplegia spastica ereditaria complessa rara, che esordisce nella prima infanzia con spasticità progressiva degli arti inferiori, gravi anomalie dell'andatura che esitano nella perdita della deambulazione, assenza dei riflessi tendinei profondi ed amiotrofia. Altri segni clinici comprendono la neuropatia sensitivo-motoria grave, i piedi equino-vari e la disabilità intellettiva lieve. Le neuroimmagini evidenziano l'ipoplasia del cervelletto e del corpo calloso e la colpocefalia."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 66","synonyms":["SPG66"],"definition":"Autosomaal recessieve spastische paraplegie type 66 is een zeldzame, complexe erfelijke spastische paraplegie die gekarakteriseerd wordt door infantiele aanvang van progressieve spasticiteit van de ledematen, ernstige gangstoornissen met verlies van loopvermogen tot gevolg, afwezige diepe peesreflexen en amyotrofie. Bijkomende tekenen zijn onder meer ernstige sensomotorische neuropathie, pes equinovarus en milde intellectuele achterstand. Hypoplasie van cerebellum en corpus callosum, alsook colpocefalie, worden waargenomen bij beeldvorming van de hersenen."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 66"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 66","synonyms":["SPG66"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 66 jest rzadką, złożoną, dziedziczną paraplegią spastyczną, która charakteryzuje się postępującą spastycznością kończyn dolnych, która pojawia się w wieku niemowlęcym, nasilonymi zaburzeniami chodu prowadzącymi do unieruchomienia, brakiem głębokich odruchów ścięgnistych i zanikami mięśni. Dodatkowo może wystąpić ciężka neuropatia czuciowo-ruchowa, stopy końsko-szpotawe i łagodna niepełnosprawność intelektualna. W badaniu neuroobrazowym obserwuje się hipoplazję móżdżku, ciała modzelowatego oraz kolpocefalię."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 66","synonyms":["SPG66"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 66","synonyms":["SPG66"],"definition":"A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫66型","synonyms":["SPG66"],"definition":"常染色体隐性遗传性痉挛性截瘫66型是一种罕见的、复杂性遗传性痉挛性截瘫疾病，其特征为婴儿期起病的进行性下肢痉挛，严重的步态障碍所致行走不能状态，深反射缺乏和肌萎缩。本病其他症状包括严重的感觉运动神经病、马蹄内翻足和轻度智力障碍。在神经影像上可观察小脑和胼胝体发育不全，以及头畸形。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 66","synonyms":["SPG66"]}},"xrefs":[{"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":"0018418","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190590","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"21697","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":"ARSI","name":"arylsulfatase family member I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"32521","ensembl":"ENSG00000183876","omim":"610009","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["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:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001301","label":"Chronic sensorineural polyneuropathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030048","label":"Colpocephaly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","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},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null}]}}