{"orpha":36899,"name":"Myoclonus-dystonia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alcohol-responsive dystonia","Hereditary essential myoclonus","Myoclonic dystonia"],"definition":"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-36899/","orphanet_url":"https://www.orpha.net/en/disease/detail/36899","names":{"fr":{"name":"Dystonie myoclonique héréditaire","synonyms":["Dystonie sensible à l'alcool","Myoclonus-dystonie"],"definition":"La dystonie myoclonique héréditaire est un trouble rare du mouvement caractérisé par une dystonie légère à modérée accompagnée de spasmes myocloniques « en éclair »."},"de":{"name":"Myoklonus-Dystonie-Syndrom","synonyms":["Dystonie, Alkohol-responsive","Hereditärer essentieller Myoklonus","Myoklone Dystonie"],"definition":"Das Myoklonus-Dystonie-Syndrom (MDS) ist eine seltene Bewegungsstörung mit leichter bis moderater Dystonie zusammen mit'' blitzartigen'' myoklonischen Zuckungen."},"es":{"name":"Síndrome de distonía-mioclonía","synonyms":["Distonía mioclónica","Distonía sensible al alcohol","Mioclono esencial hereditario"],"definition":"El síndrome de distonía mioclónica (MDS) es un trastorno raro del movimiento caracterizado por una distonía de leve a moderada junto con sacudidas mioclónicoa fulgurantes."},"it":{"name":"Sindrome mioclono-distonia","synonyms":["DYT11","Distonia mioclonica","Distonia sensibile all'alcol","Mioclono essenziale ereditario"],"definition":"La sindrome da distonia mioclonica (MDS) è un disturbo raro del movimento, caratterizzato da distonia lieve-moderata associata a scosse miocloniche fulminee."},"nl":{"name":"Myoclonus - dystonie-syndroom","synonyms":["Alcoholresponsieve dystonie","Erfelijke essentiële myoclonus","Myoclonische dystonie"],"definition":"Myoclonus-dystoniesyndroom (MDS) is een zeldzame bewegingsstoornis die wordt gekarakteriseerd door lichte tot matige dystonie samen met ''bliksemachtige'' myoclonische convulsies."},"pt":{"name":"Síndrome de mioclonia-distonia","synonyms":["Distonia sensível ao alcoól","Distonia-mioclonia","Mioclonia essencial hereditária"]},"pl":{"name":"Zespół mioklonie-dystonia","synonyms":["Dystonia miokloniczna","Dystonia reagująca na alkohol","DYT11","Dziedziczne mioklonie"]},"cs":{"name":"Syndrom zahrnující myoklonus a dystonii","synonyms":["Alkohol-responzivní dystonie","DYT11","Hereditární esenciální myoklonus","Myoklonická dystonie"],"definition":"Myoklonická dystonie (MD) je vzácná porucha pohybového aparátu charakterizovaná mírnou až střední dystonií a rychlými myoklonickými záškuby."},"uk":{"name":"Синдром міоклонус-дистонії","synonyms":["Дистонія, що реагує на алкоголь","Спадковий есенціальний міоклонус","Міоклонічна дистонія"],"definition":"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks."},"zh":{"name":"肌阵挛性肌张力障碍","synonyms":["遗传性原发性肌阵挛"]},"tr":{"name":"Miyoklonus-distoni sendromu","synonyms":["Miyoklonik distoni","Alkole duyarlı distoni","Kalıtsal temel miyoklonus"]}},"xrefs":[{"source":"OMIM","code":"159900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616398","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1047919249"},{"source":"MONDO","code":"0000903","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536096","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834570","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7139","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084572","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":210566,"name":"Myoclonic dystonia 15","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98741,"name":"Neurological muscular channelopathy due to a genetic potassium channel defect","classifications":[156,181]},{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]},{"orpha":306750,"name":"Primary myoclonus","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DRD2","name":"dopamine receptor D2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"3023","ensembl":"ENSG00000149295","omim":"126450","loci":["11q23.2"]},{"symbol":"TOR1A","name":"torsin family 1 member A","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"3098","ensembl":"ENSG00000136827","omim":"605204","loci":["9q34.11"]},{"symbol":"KCTD17","name":"potassium channel tetramerization domain containing 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25983243[PMID]","hgnc":"25705","ensembl":"ENSG00000100379","omim":"616386","loci":["22q12.3"]},{"symbol":"SGCE","name":"sarcoglycan epsilon","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10808","ensembl":"ENSG00000127990","omim":"604149","loci":["7q21.3"]},{"symbol":"DYT15","name":"dystonia 15, myoclonic","gene_type":"Disorder-associated locus","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"31376","ensembl":null,"omim":null,"loci":["18p11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-04","source":"20301587[PMID]_17853490[PMID]","terms":[{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010531","label":"Spinal myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025269","label":"Panic attack","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012075","label":"Personality disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002356","label":"Writer's cramp","frequency":"Frequent (79-30%)","criteria":null}]}}