{"orpha":94125,"name":"Recessive mitochondrial ataxia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MIRAS"],"definition":"A rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94125/","orphanet_url":"https://www.orpha.net/en/disease/detail/94125","names":{"fr":{"name":"Syndrome d'ataxie mitochondriale récessive","synonyms":["MIRAS"],"definition":"Syndrome rare de maintenance de l'ADN mitochondrial caractérisé par une ataxie cérébelleuse à début précoce, ainsi que par l'association inconstante d'une épilepsie, de céphalées, d'une dysarthrie, d'une ophtalmoplégie, d'une neuropathie périphérique, d'une déficience intellectuelle, de symptômes psychiatriques et de troubles du mouvement."},"de":{"name":"Ataxie-Syndrom, mitochondriales rezessives","synonyms":["MIRAS"]},"es":{"name":"Síndrome de ataxia mitocondrial recesiva","definition":"Es un síndrome de mantenimiento del ADN mitocondrial poco frecuente, caracterizado por ataxia cerebelosa de inicio temprano y una combinación variable de epilepsia, cefalea, disartria, oftalmoplejía, neuropatía periférica, discapacidad intelectual, síntomas psiquiátricos y trastornos del movimiento."},"it":{"name":"Sindrome atassica mitocondriale recessiva","synonyms":["MIRAS"],"definition":"La sindrome atassica mitocondriale recessiva è una condizione rara da mantenimento del DNA mitocondriale, caratterizzata da atassia cerebellare ad esordio precoce, variabilmente associata a epilessia, cefalea, disartria, oftalmoplegia, neuropatia periferica, disabilità intellettiva, sintomi psichiatrici e disturbi del movimento."},"nl":{"name":"Recessief mitochondriaal ataxiesyndroom","synonyms":["MIRAS"],"definition":"Recessief mitochondriaal ataxiesyndroom is een zeldzaam syndroom van het mitochondriale DNA-onderhoud dat wordt gekarakteriseerd door vroeg aanvangende cerebellaire ataxie, en variabele combinaties van epilepsie, hoofdpijn, dysartrie, oftalmoplegie, perifere neuropathie, intellectuele achterstand, psychiatrische symptomen en bewegingsstoornissen."},"pt":{"name":"Síndrome de ataxia mitocondrial, recessiva"},"pl":{"name":"Zespół recesywnej ataksji mitochondrialnej","synonyms":["MIRAS"]},"cs":{"name":"Syndrom recesivní mitochondriální ataxie","synonyms":["MIRAS"]},"uk":{"name":"Синдром рецесивної мітохондріальної атаксії","synonyms":["MIRAS"],"definition":"A rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders."},"zh":{"name":"隐性线粒体共济失调综合征","synonyms":["MIRAS"],"definition":"隐性遗传线粒体共济失调综合征是一种罕见的线粒体DNA维持综合征，其特征是早发性小脑共济失调，以及癫痫、头痛、构音障碍、眼肌麻痹、周围神经病变、智力障碍、精神症状和运动障碍的多变组合。"},"tr":{"name":"Resesif mitokondriyal ataksi sendromu","synonyms":["MIRAS"]}},"xrefs":[{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"992703509"},{"source":"MONDO","code":"0019791","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4760799","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":98096,"name":"Autosomal recessive metabolic cerebellar ataxia","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"POLG","name":"DNA polymerase gamma, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15824347[PMID]","hgnc":"9179","ensembl":"ENSG00000140521","omim":"174763","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-15","source":"25586537[PMID]","terms":[{"hpo":"HP:0012079","label":"Abnormality of central motor conduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003542","label":"Increased circulating pyruvate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002406","label":"Limb dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002403","label":"Positive Romberg sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012251","label":"ST segment elevation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null}]}}