{"orpha":1182,"name":"Spastic ataxia with congenital miosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant spastic ataxia type 7","SPAX7"],"definition":"Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1182/","orphanet_url":"https://www.orpha.net/en/disease/detail/1182","names":{"fr":{"name":"Syndrome d'ataxie-myosis congénital","synonyms":["Ataxie spastique autosomique dominante type 7","SPAX7"],"definition":"Le syndrome d'ataxie-myosis congénital est une ataxie héréditaire rare caractérisée par une démarche ataxique symétrique, apparemment non progressive ou lentement progressive, des signes pyramidaux au niveau des membres, une spasticité et une hyperréflexie (touchant surtout les membres inférieurs). Les manifestations associées sont une dysarthrie et une altération de la réaction pupillaire à la lumière, se manifestant par un myosis fixe (avec des pupilles qui excèdent rarement 2 mm de diamètre et se dilatent peu avec des mydriatiques). Un nystagmus peut aussi s'observer."},"de":{"name":"Spastische Ataxie mit kongenitaler Miosis","synonyms":["SPAX7","Spastische Ataxie, autosomal-dominante, Typ 7"],"definition":"Spastische Ataxie mit kongenitaler Miosis ist eine seltene hereditäre Ataxie, die durch eine scheinbar nicht progrediente oder langsam progrediente symmetrische Ataxie des Ganges, pyramidale Zeichen in den Gliedmaßen, Spastik und Hyperreflexie (besonders in den unteren Gliedmaßen) zusammen mit Dysarthrie und beeinträchtigter Pupillenreaktion auf Licht gekennzeichnet ist und sich als fixierte Miosis (mit Pupillen, die selten einen Durchmesser von 2 mm überschreiten und sich bei Mydriatikern schlecht erweitern) präsentiert. Ein Nystagmus kann ebenfalls vorhanden sein."},"es":{"name":"Ataxia espástica con miosis congénita","synonyms":["Ataxia espástica autosómica dominante tipo 7","SPAX7"],"definition":"La ataxia espástica con miosis congénita es una ataxia hereditaria rara caracterizada por una ataxia de la marcha simétrica aparentemente no progresiva o lentamente progresiva, con signos piramidales en las extremidades, espasticidad e hiperreflexia (especialmente en las extremidades inferiores) junto con disartria y reacción pupilar a la luz patológica presentándose como miosis fija (con pupilas que raramente exceden los 2 mm de diámetro y se dilatan débilmente con midriáticos). El nistagmus también puede estar presente"},"it":{"name":"Atassia spastica con miosi congenita","definition":"L'atassia spastica con miosi congenita è un'atassia ereditaria rara caratterizzata da andatura atassica simmetrica apparentemente non progressiva o a progressione lenta, segni piramidali agli arti, spasticità e iperreflessia (soprattutto agli arti inferiori), associate a disartria e anomalie del riflesso pupillare alla luce, che esordisce con una miosi fissa (le pupille raramente superano i 2 mm di diametro e si dilatano poco con i midiatrici). Può associarsi il nistagmo."},"nl":{"name":"Spastische ataxie met congenitale miose","synonyms":["Autosomaal dominante spastische ataxie type 7","SPAX7"],"definition":"Spastische ataxie met congenitale miosis is een zeldzame erfelijke ataxie die wordt gekarakteriseerd door een schijnbaar niet-progressieve of traag progressieve symmetrische gangataxie, piramidale tekens in de ledematen, spasticiteit en hyperreflexie (vooral in de onderste ledematen) in combinatie met dysartrie en een verstoorde lichtreflex van de pupil, die zich uit als een onveranderlijke miosis (met pupillen die maar zelden een diameter groter dan 2 mm hebben en die slecht verwijden met mydriatica). Nystagmus kan ook aanwezig zijn."},"pt":{"name":"Ataxia espástica com miose congénita"},"pl":{"name":"Ataksja spastyczna z miozą wrodzoną","synonyms":["SPAX7","Autosomalna dominująca ataksja spastyczna typu 7"]},"cs":{"name":"Spastická ataxie s vrozenou miózou","synonyms":["Autosomal dominant spastic ataxia type 7","SPAX7"]},"uk":{"name":"Спастична атаксія з вродженим міозом","synonyms":["Аутосомно-домінантна спастична атаксія, тип 7","SPAX7"],"definition":"Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present."},"zh":{"name":"痉挛性共济失调伴先天性瞳孔缩小","synonyms":["常染色体显性遗传痉挛性共济失调7型"]},"tr":{"name":"Doğumsal miyozlu spastik ataksi","synonyms":["SPAX7","Otozomal dominant spastik ataksi tip 7"]}},"xrefs":[{"source":"OMIM","code":"108650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007165","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566247","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862441","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":316235,"name":"Autosomal dominant spastic ataxia","classifications":[156,181]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"6821680[PMID]_17584505[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17584505[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007728","label":"Congenital miosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002497","label":"Spastic ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}