{"orpha":2589,"name":"Myoclonus-cerebellar ataxia-deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Myoclonus-cerebellar ataxia-hearing loss syndrome"],"definition":"A rare genetic developmental defect during embryogenesis characterized by progressive childhood/early adulthood-onset sensorineural hearing loss (which may be bilateral), adolescence-onset myoclonus, provoked by light and bright colors and cerebellar ataxia (manifests as gait instability, and intention tremor). Generalized tonic-clonic seizures may also be present. There have been no further descriptions in the literature since 1984.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2589/","orphanet_url":"https://www.orpha.net/en/disease/detail/2589","names":{"fr":{"name":"Syndrome de myoclonie-ataxie cérébelleuse-surdité","definition":"Anomalie génétique rare du développement embryonnaire, caractérisée par une surdité neurosensorielle progressive survenant pendant l'enfance ou le début de l'âge adulte (qui peut être bilatérale), des myoclonies à l'adolescence, provoquées par la lumière et les couleurs vives, et par une ataxie cérébelleuse (se manifestant par une instabilité de la démarche et des tremblements intentionnels). Des crises tonico-cloniques généralisées peuvent également être présentes. Aucun nouveau cas n'a été décrit dans la littérature depuis 1984."},"de":{"name":"Myoklonie-zerebelläre Ataxie-Taubheit-Syndrom","definition":"Eine seltene genetische Entwicklungsstörung während der Embryogenese, die durch eine fortschreitende Schallempfindungsschwerhörigkeit (die beidseitig auftreten kann) im Kindes- und frühen Erwachsenenalter, einen durch Licht und helle Farben ausgelösten Myoklonus im Jugendalter und eine zerebelläre Ataxie (die sich als Gangunsicherheit und Intentionstremor äußert) gekennzeichnet ist. Generalisierte tonisch-klonische Anfälle können ebenfalls auftreten. Seit 1984 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de mioclonías-ataxia cerebelosa-sordera","synonyms":["Síndrome de mioclonías-ataxia cerebelosa-hipoacusia"],"definition":"Es un defecto genético poco frecuente del desarrollo durante la embriogénesis caracterizado por hipoacusia neurosensorial progresiva (que puede ser bilateral) que debuta en la infancia o en la adultez temprana, crisis mioclónicas de inicio en la adolescencia desencadenadas por la luz y por los colores brillantes, y ataxia cerebelosa (que se manifiesta como inestabilidad de la marcha y temblor intencional). También puede asociar crisis tónico-clónicas generalizadas. No se han descrito más casos en la literatura desde 1984."},"it":{"name":"Sindrome mioclonia-atassia cerebellare-sordità"},"nl":{"name":"Myoclonus - cerebellaire ataxie - doofheid-syndroom","synonyms":["Myoclonus - cerebellaire ataxie - gehoorverlies-syndroom"],"definition":"Een zeldzaam genetisch ontwikkelingsdefect tijdens de embryogenese, gekenmerkt door progressief sensorineuraal gehoorverlies (mogelijk bilateraal) met aanvang in de kindertijd/vroege volwassenheid, in de adolescentie optredende myoclonus uitgelokt door licht en felle kleuren, en cerebellaire ataxie (die zich manifesteert als onstabiele gang en intentietremor). Gegeneraliseerde tonisch-clonische insulten kunnen ook aanwezig zijn. Sinds 1984 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de mioclonia-ataxia cerebelosa-surdez","definition":"Este síndrome é caracterizado pela associação de mioclonia, ataxia cerebelar e perda auditiva neurossensorial."},"pl":{"name":"Zespół mioklonii, ataksji możdżkowej i głuchoty","synonyms":["Myoclonus-cerebellar ataxia-hearing loss syndrome"]},"cs":{"name":"Syndrom zahrnující myoklonus, cerebelární ataxii a hluchotu","synonyms":["Myoclonus-cerebellar ataxia-hearing loss syndrome"]},"uk":{"name":"Синдром міоклонус-мозочкова атаксія-глухота","synonyms":["Синдром міоклонус-мозочкової атаксії-туговухості"],"definition":"This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss."},"zh":{"name":"肌阵挛-小脑性共济失调-耳聋综合征","synonyms":["肌阵挛-小脑性共济失调-耳聋综合征"]},"tr":{"name":"Miyoklonus-serebellar ataksi-sağırlık sendromu","synonyms":["Miyoklonus-serebellar ataksi-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"159800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"40732808"},{"source":"MONDO","code":"0008043","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518566","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3873","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"5698045[PMID]_6537856[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5698045[PMID]_6537856[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-19","source":"2614456[PMID]","terms":[{"hpo":"HP:0002522","label":"Areflexia of lower limbs","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":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null}]}}