{"orpha":70595,"name":"Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SANDO"],"definition":"A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-70595/","orphanet_url":"https://www.orpha.net/en/disease/detail/70595","names":{"fr":{"name":"Syndrome d'ataxie neuropathique sensorielle-dysarthrie-ophtalmoplégie","synonyms":["SANDO"],"definition":"Maladie mitochondriale rare caractérisée par l'apparition d'une triade de symptômes débutant à l 'âge adulte comprenant; une neuropathie ataxique sensorielle sévère, une dysarthrie et une ophtalmoplégie externe progressive chronique. Les autres signes et symptômes sont très variables et comprennent, entre autres, la myopathie, les convulsions et la perte d'audition. L'imagerie cérébrale peut montrer des anomalies de la substance blanche cérébelleuse et/ou des lésions thalamiques bilatérales."},"de":{"name":"Sensorische ataktische Neuropathie-Dysarthrie-Ophthalmoparese-Syndrom","synonyms":["SANDO","SANDO-Syndrom","Syndrom der sensorischen ataktischen Neuropathie, Dysarthrie und Ophthalmoparese"],"definition":"Eine seltene mitochondriale Erkrankung, bei der im Erwachsenenalter die Trias aus sensorischer ataktischer Neuropathie, Dysarthrie und Ophthalmoparese auftritt. Weitere Anzeichen und Symptome sind sehr unterschiedlich und umfassen u. a. Myopathie, Krampfanfälle und Hörverlust. Die Bildgebung des Gehirns kann Anomalien der weißen Substanz des Kleinhirns und/oder bilaterale Thalamusläsionen zeigen."},"es":{"name":"Síndrome de neuropatía atáxica sensitiva-disartria-oftalmoplejía","synonyms":["SANDO"],"definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por el inicio en la edad adulta de la tríada formada por neuropatía atáxica sensitiva, disartria y oftalmoparesia. Los signos y síntomas adicionales son altamente variables, incluyendo miopatía, crisis epilépticas y pérdida auditiva, entre otros. La neuroimagen puede mostrar anomalías de la sustancia blanca cerebelosa y/o lesiones talámicas bilaterales."},"it":{"name":"Sindrone neuropatia atassica sensoriale-disartria-oftalmoparesi","synonyms":["SANDO"],"definition":"Si tratta di una malattia mitocondriale rara, che esordisce nell'età adulta con la triade neuropatia atassica sensoriale, disartria e oftalmoparesi. Può associarsi ad altri sintomi molto variabili che comprendono la miopatia, le crisi epilettiche e la sordità. Le neuroimmagini evidenziano anomalie della sostanza bianca cerebellare e/o lesioni bilaterali del talamo."},"nl":{"name":"Sensorische ataxische neuropathie - dysartrie - oftalmoparese-syndroom","synonyms":["SANDO"],"definition":"Een zeldzame mitochondriale aandoening, gekarakteriseerd door aanvang in de volwassenheid van de triade van sensorische ataxische neuropathie, dysartrie, en oftalmoparese. Bijkomende verschijnselen en symptomen zijn zeer variabel, met onder meer myopathie, insulten, en gehoorverlies. Beeldvorming van hersenen toont mogelijk afwijkingen van cerebellaire witte stof en/of bilaterale laesies van thalamus."},"pt":{"name":"Síndrome de neuropatia sensorial atáxica-disartria-oftalmoparésia","synonyms":["SANDO"]},"pl":{"name":"Neuropatia czuciowa - dyzartria - oftalmopareza","synonyms":["SANDO"]},"cs":{"name":"Senzoataktická ataktická neuropatie s dysartrií a oftalmoparézou","synonyms":["SANDO"]},"uk":{"name":"Синдром сенсорної атактичної нейропатії-дизартрії-офтальмопарезу","synonyms":["SANDO"],"definition":"A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions."},"zh":{"name":"感觉神经共济失调性神经病-构音障碍-眼肌麻痹综合征","synonyms":["SANDO"]},"tr":{"name":"Duyusal ataksik nöropati-dizartri-oftalmoparezi sendromu","synonyms":["SANDO"]}},"xrefs":[{"source":"OMIM","code":"607459","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1186669485"},{"source":"MONDO","code":"0011835","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537583","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843851","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9998","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":254818,"name":"Ataxia neuropathy spectrum","classifications":[150,156]},{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":225703,"name":"Mitochondrial disease with peripheral neuropathy","classifications":[156,181]},{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TWNK","name":"twinkle mtDNA helicase","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"15668446[PMID]","hgnc":"1160","ensembl":"ENSG00000107815","omim":"606075","loci":["10q24.31"]},{"symbol":"POLG","name":"DNA polymerase gamma, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12565911[PMID]_16919951[PMID]","hgnc":"9179","ensembl":"ENSG00000140521","omim":"174763","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-16","source":"15477547[PMID]_11571332[PMID]_9222196[PMID]","terms":[{"hpo":"HP:0031422","label":"Abnormal morphology of the cerebellar cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001751","label":"Abnormal vestibular function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007344","label":"Atrophy/Degeneration involving the spinal cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006858","label":"Impaired distal proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002403","label":"Positive Romberg sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003434","label":"Sensory ataxic neuropathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0025331","label":"Upgaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002578","label":"Gastroparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004389","label":"Intestinal pseudo-obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}