{"orpha":98805,"name":"Primary dystonia, DYT4 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT4","Hereditary whispering dysphonia"],"definition":"A rare genetic dystonia characterized predominantly by laryngeal dystonia/spasmodic dysphonia, mostly followed by cervical and generalized dystonia. Upper and lower limb dystonia, with the latter leading to a \"hobby horse\" gait (with toe walking, stiff legs, and a skipping gait), craniofacial and/or oro-pharyngeal dystonia have been reported in some patients. Severity and rate of progression vary among affected individuals ; some patients may have laryngeal or cervical dystonia as a life-long isolated feature, however most patients present with dystonia in other body sites.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98805/","orphanet_url":"https://www.orpha.net/en/disease/detail/98805","names":{"fr":{"name":"Dystonie primaire type DYT4","synonyms":["DYT4"],"definition":"Dystonie génétique rare caractérisée principalement par une dystonie laryngée/dysphonie spasmodique, suivie le plus souvent d'une dystonie cervicale et généralisée. Une dystonie des membres supérieurs et inférieurs, cette dernière entraînant une démarche de type «&nbsp;hobby horse&nbsp;» (cheval bâton, marche sur la pointe des pieds, jambes raides et démarche sautillante), une dystonie craniofaciale et/ou oro-pharyngée ont été rapportées chez certains patients. La gravité et la vitesse de progression varient selon les personnes touchées&nbsp;; certains patients peuvent présenter une dystonie laryngée ou cervicale comme caractéristique isolée tout au long de leur vie, mais la plupart des patients présentent une dystonie affectant d'autres parties du corps."},"de":{"name":"Dystonie, primäre, Typ DYT4","synonyms":["DYT4"],"definition":"Eine seltene genetische Dystonie, die vorwiegend durch laryngeale Dystonie/spasmodische Dysphonie gekennzeichnet ist, meist gefolgt von zervikaler und generalisierter Dystonie. Bei einigen Patienten wurde über Dystonie der oberen und unteren Extremitäten berichtet, wobei letztere zu einem 'Hobby Horse Gait' (mit Zehenspitzengehen, steifen Beinen und einem hüpfenden Gang) führt, sowie über kraniofaziale und/oder oropharyngeale Dystonie. Der Schweregrad und die Progressionsrate variieren zwischen den betroffenen Personen; bei einigen Patienten kann die Kehlkopf- oder zervikale Dystonie ein lebenslang isoliertes Merkmal sein, jedoch weisen die meisten Patienten Dystonien an anderen Körperstellen auf."},"es":{"name":"Distonía primaria tipo DYT4","definition":"Es una distonía poco frecuente de origen genético caracterizada predominantemente por distonía laríngea/disfonía espasmódica, seguida en la mayoría de los casos de distonía cervical y generalizada. En algunos pacientes, se ha descrito distonía de miembros superiores e inferiores, esta última con marcha equina (de puntillas, con rigidez de las piernas y marcha a saltos), distonía craneofacial y/u orofaríngea. La gravedad y la velocidad de progresión varían de un paciente a otro; algunos pueden presentar distonía laríngea o cervical como síntoma aislado de por vida, mientras que la mayoría presenta distonía en otras regiones anatómicas."},"it":{"name":"Distonia primaria, tipo DYT4"},"nl":{"name":"Primaire dystonie, DYT4-type","synonyms":["DYT4","Erfelijke fluisterdysfonie"],"definition":"Een zeldzame genetische dystonie, hoofdzakelijk gekenmerkt door laryngeale dystonie/spasmodische dysfonie, meestal gevolgd door cervicale en gegeneraliseerde dystonie. Dystonie van bovenste en onderste ledematen, waarbij deze laatste leidt tot \"stokpaard\"-gang (met tenenlopen, stijve benen, en een huppelende gang), en craniofaciale en/of orofaryngeale dystonie werden bij sommige patiënten gerapporteerd. Ernst en snelheid van progressie variëren tussen getroffen individuen; sommige patiënten hebben mogelijk laryngeale of cervicale dystonie als een levenslang geïsoleerd kenmerk, maar de meeste patiënten vertonen dystonie op andere plaatsen van het lichaam."},"pt":{"name":"Distonia idiopática de torção não-DYT1","definition":"A distonia primária do tipo DYT4 é caracterizada predominantemente por distonia da laringe, (manifestando-se como disfonia sussurrante) e distonia cervical (manifestando-se como torcicolo)."},"pl":{"name":"Dystonia pierwotna, typ DYT4","synonyms":["Dystonia pierwotna, typ DYT4"]},"cs":{"name":"Primární dystonie, typ DYT4","synonyms":["DYT4","Hereditární šeptavá dysfonie"]},"uk":{"name":"Первинна дистонія, тип DYT4","synonyms":["DYT4","Спадкова дисфонія шепелявості"],"definition":"DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)."},"zh":{"name":"原发性肌张力障碍DYT4型","synonyms":["遗传性耳语言语障碍"],"definition":"DYT4型原发性肌张力障碍主要表现为喉部肌张力障碍(发音困难)和颈部肌张力障碍(斜颈)。"},"tr":{"name":"Primer distoni, DYT4 tipi","synonyms":["DYT4","Kalıtsal fısıldayan disfoni"]}},"xrefs":[{"source":"OMIM","code":"128101","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1494639843"},{"source":"MONDO","code":"0007493","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536698","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860315","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10138","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1866,"name":"Focal, segmental or multifocal dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TUBB4A","name":"tubulin beta 4A class IVa","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"20774","ensembl":"ENSG00000104833","omim":"602662","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21956287[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"21956287[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-23","source":"21956287[PMID]_3156966[PMID]","terms":[{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012049","label":"Laryngeal dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003782","label":"Eunuchoid habitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000182","label":"Movement abnormality of the tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009938","label":"Sunken cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007351","label":"Upper limb postural tremor","frequency":"Occasional (29-5%)","criteria":null}]}}