{"orpha":210141,"name":"Inherited congenital spastic tetraplegia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Inherited congenital spastic quadriplegia"],"definition":"Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210141/","orphanet_url":"https://www.orpha.net/en/disease/detail/210141","names":{"fr":{"name":"Tétraplégie spastique congénitale héréditaire","synonyms":["Quadriplégie spastique congénitale héréditaire"],"definition":"Maladie neurologique génétique rare, caractérisée par une quadriparésie spastique variable et non progressive chez plusieurs membres d'une même famille, en l'absence de facteurs supplémentaires compliquant la grossesse ou l'accouchement (par exemple, asphyxie périnatale, infection congénitale). Les autres caractéristiques cliniques sont une hypotonie congénitale, une déficience intellectuelle et un retard de développement. Une dysphagie, une dysarthrie, une exotropie, un nystagmus, des convulsions et une atrophie cérébrale avec ventriculomégalie peuvent également être présents."},"de":{"name":"Spastische Tetraplegie, kongenitale","synonyms":["Quadriplegie, hereditäre spastische"]},"es":{"name":"Tetraplejía espástica congénita hereditaria","definition":"La tetraplejia espástica congénita hereditaria, es una enfermedad neurológica genética y poco frecuente, caracterizada por tetraparesia espástica variable no progresiva en múltiples miembros de una familia, en ausencia de otras causas por complicaciones de embarazo o el parto (por ejemplo, asfixia perinatal, infección congénita). Otras características clínicas adicionales incluyen hipotonía congénita, discapacidad intelectual y retraso del desarrollo. También puede haber disfagia, disartria, exotropía, nistagmo, convulsiones y atrofia cerebral con ventriculomegalia."},"it":{"name":"Tetraplegia spastica congenita ereditaria","synonyms":["Quadriplegia spastica congenita ereditaria"],"definition":"La tetraplegia spastica congenita ereditaria è una malattia neurologica genetica rara, caratterizzata da tetraparesi spastica non progressiva di gravità variabile in più membri della stessa famiglia, in assenza di altri fattori complicanti la gravidanza o la nascita (ad es. asfissia perinatale, infezione congenita). Altri segni clinici sono l'ipotonia congenita, la disabilità intellettiva e il ritardo dello sviluppo. I pazienti possono anche presentare disfagia, disartria, exotropia, nistagmo, crisi epilettiche e atrofia cerebrale con ventricolomegalia."},"nl":{"name":"Erfelijke congenitale spastische tetraplegie","synonyms":["Erfelijke congenitale spastische quadriplegie"],"definition":"Erfelijke congenitale spastische tetraplegie is een zeldzame, genetische, neurologische ziekte die gekarakteriseerd wordt door niet-progressieve, variabele spastische quadriparese in meerdere leden van een familie, in afwezigheid van bijkomende factoren die de zwangerschap of de geboorte bemoeilijken (e.g. perinatale asfyxie, congenitale infectie). Bijkomende klinische kenmerken zijn onder meer congenitale hypotonie, intellectuele beperking, en ontwikkelingsachterstand. Dysfagie, dysartrie, exotropie, nystagmus, insulten en atrofie van de hersenen met ventriculomegalie kunnen ook aanwezig zijn."},"pt":{"name":"Tetraparésia espastica congénita"},"pl":{"name":"Dziedziczna wrodzona tetraplegia spastyczna","synonyms":["Dziedziczna wrodzona kwadriplegia spastyczna"],"definition":"*Dziedziczna wrodzona tetraplegia spastyczna jest rzadką, genetycznie uwarunkowaną chorobą neurologiczną, która charakteryzuje się niepostępującym, zmiennym spastycznym niedowładem czterokończynowym u wielu członków jednej rodziny, przy braku dodatkowych czynników komplikujących przebieg ciąży lub porodu (np. niedotlenienie okołoporodowe, zakażenie wrodzone). Dodatkowe objawy kliniczne obejmują wrodzoną hipotonię, niepełnosprawność intelektualną i opóźnienie rozwoju. Może wystąpić dysfagia, dyzartria, zez rozbieżny, oczopląs, drgawki i zanik mózgu ze znacznym poszerzeniem komór mózgowych."},"cs":{"name":"Dědičná vrozená spastická tetraplegie","synonyms":["Spastická kvadruplegická mozková obrna","Dědičná vrozená spastická kvadruplegie"]},"uk":{"name":"Спадкова вроджена спастична тетраплегія","synonyms":["Спадкова вроджена спастична квадриплегія"],"definition":"Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present."},"zh":{"name":"遗传性先天性痉挛性四肢瘫","synonyms":["遗传性先天性痉挛性四肢瘫"],"definition":"遗传性先天性痉挛性四肢瘫痪是一种罕见的遗传性神经系统疾病，其主要临床表现为没有妊娠或其他分娩因素（如围产期窒息、先天性感染）的情况下，一个家族的多个成员出现非进展性的多变性强直性四肢瘫。其他症状包括先天性肌张力低下、智力障碍和发育迟缓，也可出现吞咽困难、构音障碍、外斜视、眼球震颤、惊厥和脑萎缩伴脑室扩大。"},"tr":{"name":"Kalıtsal doğumsal spastik tetrapleji","synonyms":["Kalıtsal doğumsal spastik kuadripleji"]}},"xrefs":[{"source":"OMIM","code":"612900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617008","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MB50.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"16215","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190693","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":71859,"name":"Rare genetic neurological disorder","classifications":[156]},{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]}],"children":[],"genes":[{"symbol":"ADD3","name":"adducin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23836506[PMID]","hgnc":"245","ensembl":"ENSG00000148700","omim":"601568","loci":["10q25.1-q25.2"]},{"symbol":"GAD1","name":"glutamate decarboxylase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15571623[PMID]","hgnc":"4092","ensembl":"ENSG00000128683","omim":"605363","loci":["2q31.1"]},{"symbol":"KANK1","name":"KN motif and ankyrin repeat domains 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16301218[PMID]","hgnc":"19309","ensembl":"ENSG00000107104","omim":"607704","loci":["9p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"16301218[PMID]_23836506[PMID]_9084927[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16301218[PMID]_23836506[PMID]_9084927[PMID]"}],"phenotypes":null}