{"orpha":448251,"name":"Progressive autosomal recessive ataxia-deafness syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lichtenstein-Knorr syndrome","Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome","SCAR19"],"definition":"A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-448251/","orphanet_url":"https://www.orpha.net/en/disease/detail/448251","names":{"fr":{"name":"Syndrome d'ataxie progressive-surdité autosomique récessive","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 19","SCAR19","Syndrome Lichtenstein-Knorr","Syndrome d'ataxie progressive-surdité neurosensorielle autosomique récessive"],"definition":"Maladie génétique rare, caractérisée par une perte auditive neurosensorielle progressive et sévère ainsi que par des atteintes cérébelleuses progressives, notamment un trouble de la marche, un tremblement d'action, une dysmétrie, une dysdiadococinésie, une dysarthrie et un nystagmus. L'absence de réflexes tendineux profonds a également été rapportée. L'âge d'apparition varie entre la petite enfance et l'adolescence. L'IRM peut révéler une atrophie cérébelleuse variable chez certains patients."},"de":{"name":"Ataxie-Taubheit-Syndrom, progressives, autosomal-rezessives","synonyms":["Ataxie, spinozerebelläre, autosomal-rezessive, Typ 19","Lichtenstein-Knorr-Syndrom","Progressive autosomal-rezessive Ataxie-sensorineuraler Hörverlust-Syndrom","SCAR19"],"definition":"Eine genetisch bedingte syndromale Schwerhörigkeit, die gekennzeichnet ist durch schwere progressive sensorineurale Schwerhörigkeit und progressive zerebelläre Symptome wie Gangataxie, Aktionstremor, Dysmetrie, Dysdiadochokinese, Dysarthrie und Nystagmus. Auch das Fehlen der tiefen Sehnenreflexe wurde berichtet. Das Alter des Auftretens liegt zwischen dem Säuglingsalter und dem Jugendalter. Die Bildgebung des Gehirns kann bei einigen Patienten eine variable Kleinhirnatrophie zeigen."},"es":{"name":"Síndrome de ataxia progresiva-sordera autosómico recesivo","synonyms":["Ataxia espinocerebelosa autosómica recesiva tipo 19","SCAR19","Síndrome de Lichtenstein-Knorr","Síndrome de ataxia progresiva-hipoacusia autosómico recesivo"],"definition":"Es una enfermedad genética poco frecuente caracterizada una pérdida auditiva neurosensorial progresiva grave y signos cerebelosos progresivos incluyendo ataxia de la marcha, temblor de acción, dismetría, disdiadococinesia, disartria y nistagmo. También se ha descrito la ausencia de reflejos osteotendinosos. El síndrome debuta entre la lactancia y la adolescencia. La neuroimagen puede mostrar atrofia cerebelosa variable en algunos pacientes."},"it":{"name":"Sindrome atassia progressiva-sordità autosomica recessiva","synonyms":["Atassia spinocerebellare autosomica recessiva 19","SCAR19","Sindrome atassia progressiva-sordità neurosensoriale, autosomica recessiva","Sindrome di Lichtenstein-Knorr"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da sordità neurosensoriale grave e progressiva, e segni cerebellari progressivi (atassia dell'andatura, tremore d'azione, dismetria, disdiadococinesia, disartria e nistagmo). Può associarsi all'assenza dei riflessi tendinei profondi. La malattia esordisce tra la prima infanzia e l'adolescenza. In alcuni pazienti, le neuroimmagini mostrano atrofia cerebellare di gravità variabile."},"nl":{"name":"Progressieve autosomaal recessieve ataxie - doofheid-syndroom","synonyms":["Autosomaal recessieve spinocerebellaire ataxie type 19","Lichtenstein-Knorrsyndroom","Progressieve autosomaal recessieve ataxie - sensorineuraal gehoorverlies-syndroom","SCAR19"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door ernstige progressief sensorineuraal gehoorverlies en progressieve cerebellaire tekenen waaronder gangataxie, actietremor, dysmetrie, dysdiadochokinese, dysartrie, en nystagmus. Afwezigheid van diepe peesreflexen werd ook reeds gerapporteerd. De aanvangsleeftijd ligt tussen zuigelingentijd en adolescentie. Beeldvorming van hersenen toont mogelijk variabele cerebellaire atrofie bij sommige patiënten."},"pt":{"name":"Síndrome com ataxia progressiva autossómica recessiva - surdez"},"pl":{"name":"Zespół postępującej autosomalnej recesywnej ataksji i głuchoty","synonyms":["Autosomalna recesywna ataksja rdzeniowo-móżdżkowa 19","SCAR19","Zespół Lichtensteina i Knorra","Zespół postępującej autosomalnej recesywnej ataksji i czuciowo-nerwowej utraty słuchu"]},"cs":{"name":"Syndrom zahrnující progresivní autozomálně recesivní ataxii a hluchotu","synonyms":["SCAR19","Lichtensteinův-Knorrův syndrom","Syndrom zahrnující progresivní autozomálně recesivní ataxii a sensorineurální ztrátu sluchu","Lichtenstein-Knorrův syndrom"]},"uk":{"name":"Прогресуючий аутосомно-рецесивний синдром атаксії-глухоти","synonyms":["Синдром Ліхтенштейна-Кнорра","Прогресуючий аутосомно-рецесивний синдром сенсоневральної приглухуватості з атаксиєю","SCAR19"],"definition":"A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients."},"zh":{"name":"进行性常染色体隐性共济失调-耳聋综合征","synonyms":["进行性常染色体隐性共济失调-感音神经性听力损伤综合征"],"definition":"一种罕见的遗传病，特征是严重的进行性感觉神经性听力减退和进行性小脑体征，包括步态共济失调，动作性震颤，辨距不良，运动异常，轮替运动障碍，构音困难和眼球震颤，无深层腱反射。发病年龄在婴儿期和青春期之间。在某些患者中，脑部成像可能显示出小脑萎缩。"},"tr":{"name":"İlerleyici otozomal resesif ataksi-sağırlık sendromu","synonyms":["SCAR19","Lichtenstein-Knorr sendromu","İlerleyici otozomal çekinik ataksi-sensörinöral işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"616291","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014572","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225383","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"SLC9A1","name":"solute carrier family 9 member A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25205112[PMID]","hgnc":"11071","ensembl":"ENSG00000090020","omim":"107310","loci":["1p36.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3739762[PMID]_25205112[PMID]_3465984[PMID]_2603781[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"3739762[PMID]_25205112[PMID]_3465984[PMID]_2603781[PMID]"}],"phenotypes":null}