{"orpha":324588,"name":"Familial dyskinesia and facial myokymia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FDFM"],"definition":"Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324588/","orphanet_url":"https://www.orpha.net/en/disease/detail/324588","names":{"fr":{"name":"Dyskinésie familiale avec myokymie faciale","definition":"La dyskinésie familiale avec myokymie faciale est un trouble rare du mouvement paroxysmique survenant chez l'enfant et l'adolescent. Elle se caractérise par des mouvements myocloniques, dystoniques et choréiformes paroxysmiques impliquant les membres (surtout les membres supérieurs distaux), le cou et/ou le visage, et qui peuvent augmenter progressivement en fréquence et en sévérité jusqu'à devenir presque constants. Les patients peuvent aussi présenter un retard moteur, une dyskinésie péri-orale et périorbitaire, une dysarthrie, une hypotonie et une faiblesse."},"de":{"name":"Familiäre Dyskinesie und faziale Myokymie","synonyms":["FDFM"],"definition":"Familiäre Dyskinesie und faziale Myokymie ist eine seltene paroxysmale Bewegungsstörung mit Beginn im Kindes- oder Jugendalter, die durch paroxysmale choreiforme, dystone und myoklonische Bewegungen der Gliedmaßen (meist der distalen oberen Gliedmaßen), des Halses und/oder des Gesichts gekennzeichnet ist, die sowohl in der Häufigkeit als auch im Schweregrad progressiv zunehmen können, bis sie nahezu konstant werden. Die Patienten können auch mit verzögerten motorischen Meilensteinen, perioralen und periorbitalen Dyskinesien, Dysarthrie, Hypotonie und Schwäche auftreten."},"es":{"name":"Discinesia familiar y mioquimia facial","synonyms":["FDFM"],"definition":"La discinesia familiar y mioquimia facial es un trastorno paroxístico del movimiento, poco frecuente, de inicio en la infancia y adolescencia. Se caracteriza por movimientos coreiformes, distónicos y mioclónicos paroxísticos, afectando a las extremidades (principalmente a las superiores distales), cuello y/o rostro, y que pueden aumentar progresivamente tanto en frecuencia como en gravedad hasta hacerse prácticamente constantes. Los afectados pueden presentarse además con retraso de los hitos motores, discinesias periorales y periorbitarias, disartria, hipotonía y debilidad."},"it":{"name":"Discinesia familiare e miochimia facciale","synonyms":["FDFM"],"definition":"La discinesia familiare e miochimia facciale è un raro disturbo parossistico del movimento, che esordisce nell'infanzia o nell'adolescenza ed è caratterizzato da movimenti parossistici coreiformi, distonici e mioclonici degli arti (soprattutto gli arti distali superiori), del collo e/o del viso, che possono aggravarsi in termini frequenza e di gravità, fino a diventare pressoché costanti. I pazienti possono presentare anche ritardo dello sviluppo, discinesie periorali e periorbitali, disartria, ipotonia e debolezza."},"nl":{"name":"Familiale dyskinesie en faciale myokymie","synonyms":["FDFM"],"definition":"Familiale dyskinesie en faciale myokymie is een zeldzame paroxysmale bewegingsstoornis met aanvang in de kindertijd of de adolescentie en wordt gekarakteriseerd door paroxysmale choreïforme, dystonische en myoclonische bewegingen van ledematen (meestal distale bovenste ledematen), nek en/of gelaat, die progressief kunnen toenemen in zowel frequentie als ernst tot ze bijna onophoudelijk voorkomen. Patiënten kunnen ook vertraagde motorische mijlpalen, periorale en periorbitale dyskinesieën, dysartrie, hypotonie en zwakte vertonen."},"pt":{"name":"Discinésia familiar e mioquimia facial"},"pl":{"name":"Rodzinna dyskinezja i miokimia twarzy","synonyms":["FDFM"]},"cs":{"name":"Familiární dyskineze a faciální myokymie","synonyms":["FDFM"]},"uk":{"name":"Сімейна дискінезія та міокімія обличчя","synonyms":["FDFM"],"definition":"Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness."},"zh":{"name":"家族性运动障碍与面肌颤搐","synonyms":["FDFM"],"definition":"家族性运动障碍和面部肌痉挛是一种罕见的阵发性运动障碍，儿童或青少年起病，其特征为阵发性舞蹈病、张力障碍和肌阵挛运动，涉及肢体(主要是上肢远端)、颈部和/或面部，其频率和严重程度可逐渐增加，直至几乎恒定。患者还可能出现运动里程碑延迟、口周和眶周运动障碍、构音障碍、张力减退和虚弱。"},"tr":{"name":"Ailesel diskinezi ve yüz miyokimi","synonyms":["FDFM"]}},"xrefs":[{"source":"OMIM","code":"606703","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619647","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G51.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0800028","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564676","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847627","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12722","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306768,"name":"Rare paroxysmal movement disorder","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ADCY5","name":"adenylate cyclase 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22782511[PMID]","hgnc":"236","ensembl":"ENSG00000173175","omim":"600293","loci":["3q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"11310626[PMID]_22782511[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-26","source":"22782511[PMID]_11310626[PMID]","terms":[{"hpo":"HP:0000317","label":"Facial myokymia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}