{"orpha":589618,"name":"Dystonia 28","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT28","KMT2B-related dystonia"],"definition":"A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-589618/","orphanet_url":"https://www.orpha.net/en/disease/detail/589618","names":{"fr":{"name":"Dystonie 28","synonyms":["DYT28","Dystonie KMT2B"],"definition":"Dystonie combinée persistante rare, caractérisée par l'apparition dans l'enfance d'une dystonie progressive commençant typiquement les membres inférieurs et évoluant vers une dystonie généralisée avec atteinte des membres supérieurs, du tronc, du visage et du cou. L'association avec un retard de développement variable et une déficience intellectuelle, ainsi qu'une légère microcéphalie, une petite taille, des mouvements oculaires anormaux et une légère dysmorphie faciale a été décrite."},"de":{"name":"Dystonie 28","synonyms":["DYT28","KMT2B-assoziierte Dystonie"],"definition":"Eine seltene persistierende kombinierte Dystonie, die durch eine im Kindesalter auftretende fortschreitende Dystonie gekennzeichnet ist, die typischerweise in den unteren Extremitäten beginnt und schließlich zu einer generalisierten Dystonie mit Beteiligung der oberen Extremitäten, des Rumpfes, des Gesichts und des Halses fortschreitet. In Verbindung damit wurden variable Entwicklungsverzögerungen und Intelligenzminderungen sowie leichte Mikrozephalie, Kleinwuchs, abnormale Augenbewegungen und leicht dysmorphe Gesichtsdysmorphien berichtet."},"es":{"name":"Distonía 28","synonyms":["DYT28","Distonía asociada a KMT2B","Distonía asociada al gen KMT2B"],"definition":"Es una distonía combinada persistente poco frecuente caracterizada por el inicio en la infancia de distonía progresiva que, por lo general, comienza en las extremidades inferiores y finalmente progresa a distonía generalizada con afectación de las extremidades superiores, el tronco, la cara y el cuello. Se ha descrito en asociación con un retraso variable del desarrollo y discapacidad intelectual, así como microcefalia leve, talla baja, movimientos oculares anómalos y rasgos faciales ligeramente dismórficos."},"it":{"name":"Distonia 28","synonyms":["DYT28","Distonia correlata a KMT2B"]},"nl":{"name":"Dystonie 28","synonyms":["DYT28","KMT2B-gerelateerde dystonie"],"definition":"Een zeldzame persisterende gecombineerde dystonie, gekenmerkt door in de kindertijd optredende progressieve dystonie die doorgaans begint in de onderste ledematen en uiteindelijk evolueert tot gegeneraliseerde dystonie met betrokkenheid van bovenste ledematen, romp, aangezicht en hals. Er werd associatie gerapporteerd van variabele ontwikkelingsachterstand en intellectuele achterstand, alsook milde microcefalie, kleine gestalte, abnormale oogbewegingen, en lichte dysmorfe gelaatskenmerken."},"pt":{"name":"Distonia 28","definition":"Distonia combinada persistente rara caracterizada por distonia progressiva de início na infância, geralmente começando nos membros inferiores e eventualmente progredindo para distonia generalizada com envolvimento dos membros superiores, tronco, face e pescoço. Atraso variável do desenvolvimento e perturbação do desenvolvimento intelectual, bem como microcefalia leve, baixa estatura, alteração dos movimentos oculares e características faciais levemente dismórficas têm sido reportados em associação."},"pl":{"name":"Dystonia 28","synonyms":["DYT28","KMT2B-related dystonia"]},"cs":{"name":"Dystonie 28","synonyms":["DYT28","KMT2B-related dystonia"]},"uk":{"name":"Дистонія 28","synonyms":["DYT28","Дистонія, повязана з КМТ2В"],"definition":"A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association."},"zh":{"name":"Dystonia 28","synonyms":["DYT28","KMT2B-related dystonia"]},"tr":{"name":"Dystonia 28","synonyms":["DYT28","KMT2B-related dystonia"]}},"xrefs":[{"source":"OMIM","code":"617284","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015004","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310633","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KMT2B","name":"lysine methyltransferase 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27992417[PMID]","hgnc":"15840","ensembl":"ENSG00000272333","omim":"606834","loci":["19q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":160.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-10-04","source":"33150406[PMID]","terms":[{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033049","label":"Globus pallidus hypointensity on susceptibility-weighted imaging","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031959","label":"Leg dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002425","label":"Anarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031960","label":"Arm dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012048","label":"Oromandibular dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Excluded (0%)","criteria":null}]}}