{"orpha":99736,"name":"Acetazolamide-responsive myotonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ACZ-responsive congenital myotonia","ACZ-responsive myotonia","Acetazolamide-responsive congenital myotonia","Myotonia-painful contractions syndrome","Painful congenital myotonia","Painful myotonia"],"definition":"A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99736/","orphanet_url":"https://www.orpha.net/en/disease/detail/99736","names":{"fr":{"name":"Myotonie sensible à l'acétazolamide","synonyms":["Myotonie avec crampes douloureuses","Myotonie douloureuse","Myotonie répondant à l'ACZ","Myotonie répondant à l'acétazolamide","Myotonie sensible à l'ACZ"],"definition":"La myotonie sensible à l'acétazolamide est une forme de myotonie aggravée par le potassium (MAP) considérablement influencée par l'acétazolamide."},"de":{"name":"Myotonia congenita, Azetazolamidempfindliche","definition":"Die Acetazolamid-responsive Myotonie ist eine Form der Kaliumsensitiven Myotonie (PAM, potassium-aggravated myotonia, die nach Anwendung des Carboanhydrasehemmers Acetazolamid (ACZ) dramatisch gebessert wird."},"es":{"name":"Miotonía sensible a la acetazolamida","synonyms":["Miotonía congénita dolorosa","Miotonía congénita sensible a la ACZ","Miotonía congénita sensible a la acetazolamida","Miotonía dolorosa","Miotonía sensible a la ACZ","Miotonía-contracciones dolorosas"],"definition":"Es una forma de miotonía agravada por potasio (MAP), que presenta una mejora drástica con el uso de acetazolamida (ACZ)."},"it":{"name":"Miotonia sensibile all'acetazolamide","synonyms":["Miotonia - contrazioni dolorose","Miotonia congenita dolorosa","Miotonia congenita sensibile all'ACZ","Miotonia congenita sensibile all'acetazolamide","Miotonia dolorosa","Miotonia sensibile all'ACZ"],"definition":"La miotonia rispondente all'acetazolamide è una forma della miotonia aggravata dal potassio (PAM; si veda questo termine), caratterizzata da un significativo miglioramento dopo somministrazione di acetazolamide (ACZ)."},"nl":{"name":"Acetazolamideresponsieve myotonie","synonyms":["ACZ-responsieve congenitale myotonie","ACZ-responsieve myotonie","Acetazolamideresponsieve congenitale myotonie","Myotonie - pijnlijke contracties-syndroom","Pijnlijke congenitale myotonie","Pijnlijke myotonie"],"definition":"Een vorm van kaliumgevoelige myotonie (PAM) die aanzienlijke verbetering toont bij gebruik van acetazolamide (ACZ)."},"pt":{"name":"Miotonia sensível a acetalozamida","synonyms":["Miotonia congénita sensível a acetalozamida"],"definition":"A miotonia responsiva à acetazolamida é uma forma de miotonia agravada pelo potássio (PAM, ver este termo), que mostra uma melhoria dramática com o uso da acetazolamida (ACZ)."},"pl":{"name":"Miotonia reagująca na acetazolamid","synonyms":["Miotonia - bolesne przykurcze","Miotonia bolesna","Miotonia reagująca na ACZ","Miotonia wrodzona wrażliwa na ACZ","Wrodzona miotonia bolesna","Wrodzona miotonia reagująca na acetazolamid"]},"cs":{"name":"Acetazolamid responzivní myotonie","synonyms":["ACZ responzivní vrozená myotonie","ACZ responzivní myotonie","Acetazolamid responzivní vrozená myotonie","Syndrom zahrnující myotonii a bolestivé kontrakce","Bolestivá vrozená myotonie","Bolestivá myotonie"]},"uk":{"name":"Міотонія, чутлива до ацетазоламіну","synonyms":["Вроджена міотонія, що реагує на ацетазоламіди","Вроджена міотонія, що реагує на ACZ","Міотонія, що реагує на ACZ","Синдром міотонії - болісних спазмів","Болісна вроджена міотонія","Болісна міотонія"],"definition":"A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ)."},"zh":{"name":"乙酰唑胺反应性肌强直","synonyms":["乙酰唑胺反应性先天性肌强直"],"definition":"乙酰唑胺反应性肌强直是钾加重肌强直(PAM)的一种形式，使用乙酰唑胺(ACZ)后表现出明显的改善。"},"tr":{"name":"Asetazolamide duyarlı miyotoni","synonyms":["Ağrılı miyotoni","ACZ-duyarlı miyotoni","Ağrılı doğumsal miyotoni","ACZ-duyarlı doğumsal miyotoni","Miyotoni-ağrılı kasılma sendromu","Asetazolamide-duyarlı doğumsal miyotoni"]}},"xrefs":[{"source":"OMIM","code":"608390","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C71.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1452993937"},{"source":"MONDO","code":"0020483","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275008","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":612,"name":"Potassium-aggravated myotonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SCN4A","name":"sodium voltage-gated channel alpha subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8058156[PMID]","hgnc":"10591","ensembl":"ENSG00000007314","omim":"603967","loci":["17q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null}]}}