{"orpha":412217,"name":"Dystonia-aphonia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-412217/","orphanet_url":"https://www.orpha.net/en/disease/detail/412217","names":{"fr":{"name":"Syndrome de dystonie-aphonie","definition":"Dystonie combinée persistante rare, d'origine génétique, caractérisé par une dystonie généralisée caudo-rostrale sévère et lentement progressive, avec une atteinte faciale et oro-mandibulaire marquée, entraînant une anarthrie et/ou une aphonie grave, des difficultés de déglutition et des troubles de la marche. Les autres manifestations comprennent un ralentissement des saccades horizontales, une épilepsie subclinique, une myoclonie photique, des changements hypertrophiques buccaux (par exemple, hyperplasie gingivale ou linguale), ainsi qu'un retard de développement et des troubles cognitifs."},"de":{"name":"Dystonia-Aphonie-Syndrom"},"es":{"name":"Síndrome de distonía-afonía","definition":"El síndrome de distonía - afonía, es un trastorno de distonía combinada persistente, genético y poco frecuente, caracterizado por distonía generalizada de propagación rostro-caudal, grave y de progresión lenta, con destacada afectación facial y oro-mandibular que conduce a anartria y/o afonía grave, dificultades para tragar y trastornos de la marcha. Otras manifestaciones adicionales incluyen movimiento oculomotores sacádicos horizontales lentos, epilepsia subclínica, mioclono por estímulo fótico, alteraciones hipertróficas orales (por ejemplo, hiperplasia gingival o lingual), así como retraso en las adquisiciones y afectación cognitiva."},"it":{"name":"Sindrome da distonia e afonia","definition":"La sindrome che associa la distonia all'afonia è una distonia genetica rara combinata persistente, caratterizzata da distonia generalizzata grave che si diffonde caudalmente e rostralmente, a progressione lenta, con un prevalente interessamento facciale e oro-mandibolare, che esita nell'anartria grave e/o nell'afonia, nelle difficoltà di alimentazione e nelle anomalie dell'andatura. Altri segni clinici sono le saccadi orizzontali rallentate, l'epilessia subclinica, il mioclono fotico, le alterazioni ipertrofiche orali (ad es. iperplasia delle gengive o della lingua), il ritardo dello sviluppo e il deficit cognitivo."},"nl":{"name":"Dystonie - afonie-syndroom","definition":"Dystonie - afonie-syndroom is een zeldzame, genetische, persisterende gecombineerde dystonie, en wordt gekarakteriseerd door traag progressieve, ernstige, caudo-rostraal verspreidende gegeneraliseerde dystonie met uitgesproken faciale en oro-mandibulaire betrokkenheid, die leidt tot ernstige anartrie en/of afonie, moeilijkheden met slikken, en gangstoornissen. Bijkomende manifestaties zijn onder meer vertraagde horizontale saccades, subklinische epilepsie, fotische myoclonus, orale hypertrofische veranderingen (e.g. gingivale of linguale hyperplasie), alsook vertraagde mijlpalen en cognitieve beperking."},"pt":{"name":"Síndrome de distonia - afonia"},"pl":{"name":"Zespół dystonia-afonia","definition":"*Zespół dystonia - afonia jest rzadkim, genetycznie uwarunkowanym zespołem z dystonią, który charakteryzuje się wolno postępującą, ciężką, uogólnioną dystonią, rozprzestrzeniającą się od głowy do części ogonowej z wyraźnym zajęciem twarzy i okolicy ustno-żuchwowej i prowadzi do ciężkiej anartrii (utrata zdolności artykulacji) i/lub afonii, trudności w połykaniu i zaburzeń chodu. Dodatkowe objawy to spowolnione poziome ruchy sakadyczne (ruchy skokowe oka), subkliniczna padaczka, mioklonie prowokowane błyskami światła, zmiany przerostowe jamy ustnej (np. przerost dziąseł lub języka), a także opóźnione osiąganie kamieni milowych w rozwoju i zaburzenia funkcji poznawczych."},"cs":{"name":"Syndrom zahrnující dystonii a afonii"},"uk":{"name":"Синдром дистонії-афонії","definition":"Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment."},"zh":{"name":"肌张力障碍-失声综合征","definition":"肌张力障碍-失音综合征是一种罕见的遗传性持续性肌张力障碍综合症，其特征是缓慢进行性严重的假性-从头至脚全面扩散的肌张力障碍，面部和口腔下颌骨突出，导致严重的关节炎和/或失音，吞咽困难和步态障碍。其他表现包括水平扫视速度减慢，亚临床癫痫，光敏性肌阵挛，口腔肥大性改变（例如牙龈或舌上增生），以及发育指标延迟和认知障碍。"},"tr":{"name":"Distoni-afoni sendromu"}},"xrefs":[{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190573","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":32.0,"area":"Worldwide","status":"Validated","source":"24359844[PMID]_26924602[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26924602[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-06","source":"24359844[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000183","label":"Tongue muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012087","label":"Abnormal mitochondrial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012088","label":"Abnormal urinary odor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008777","label":"Abnormal vocal cord morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002425","label":"Anarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007327","label":"Mixed demyelinating and axonal polyneuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012048","label":"Oromandibular dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007885","label":"Slowed horizontal saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null}]}}