{"orpha":99734,"name":"Myotonia fluctuans","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Exercise-induced delayed-onset myotonia","Fluctuating myotonia"],"definition":"A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99734/","orphanet_url":"https://www.orpha.net/en/disease/detail/99734","names":{"fr":{"name":"Myotonie fluctuante","definition":"Forme de myotonie aggravée par le potassium (MAP) insensible au froid soumise à d'importantes évolutions et profondément aggravée par l'ingestion de potassium."},"de":{"name":"Myotonia fluctuans","definition":"Eine Form der Kaliumsensitiven Myotonie (PAM, potassium-aggravated myotonia). Sie ist kälte-unabhängig, wechselt dramatisch und wird durch Aufnahme von Kalium erheblich verstärkt."},"es":{"name":"Miotonía fluctuante","synonyms":["Miotonía de inicio tardío inducida por el ejercicio"],"definition":"Es una forma de miotonía agravada por potasio (MAP, consulte este término), insensible al frío, drásticamente fluctuante y que se agrava profundamente con la ingesta de potasio."},"it":{"name":"Miotonia fluctuans","synonyms":["Miotonia fluttuante","Miotonia indotta dall'esercizio a esordio ritardato"],"definition":"La miotonia fluttuante (MF) è una forma della miotonia aggravata dal potassio (PAM; si veda questo termine), che è significativamente variabile , profondamente aggravata dall'ingestione di potassio ed è caratterizzata dalla insensibilità al freddo."},"nl":{"name":"Myotonia fluctuans","synonyms":["Fluctuerende myotonie","Vertraagd optredende inspanningsgeïnduceerde myotonie"],"definition":"Een vorm van kaliumgevoelige myotonie (PAM) die niet koudegevoelig is, zeer sterk fluctueert, en zeer ernstig verslechtert bij inname van kalium."},"pt":{"name":"Miotonia fluctuans","definition":"A miotonia fluctuans (MF) é uma forma de miotonia agravada pelo potássio (PAM, ver este termo), que é insensível ao frio, dramaticamente flutuante e profundamente agravada pela ingestão de potássio."},"pl":{"name":"Miotonia z objawami zmiennymi","synonyms":["Miotonia indukowana wysiłkiem o opóźnionym początku"]},"cs":{"name":"Myotonia fluctuans","synonyms":["Fluktuující myotonie","Cvičením vyvolaná myotonie s opožděným nástupem"]},"uk":{"name":"Міотонія флюктуюча","synonyms":["Міотонія сповільненого типу, спричинена фізичним навантаженням","Флуктуаційна міотонія"],"definition":"A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion."},"zh":{"name":"肌强直波动状态","synonyms":["运动型迟发性肌强直"],"definition":"波动性肌强直(MF)是钾加重型肌强直(PAM，见该词条)的一种形式，它对冷不敏感，波动剧烈，因钾摄入而病情严重恶化。"},"tr":{"name":"Miyotoni fluktuanları","synonyms":["Değişken miyotoni","Egzersiz kaynaklı gecikmiş başlangıçlı 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":"1294270721"},{"source":"MONDO","code":"0020481","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0752355","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":"7980103[PMID]_8308722[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":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-02-12","source":"30341599[PMID]_32270509[PMID]","terms":[{"hpo":"HP:0100284","label":"EMG: myotonic discharges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008967","label":"Exercise-induced muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012902","label":"Myotonia of the lower limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012903","label":"Myotonia of the upper limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002491","label":"Spasticity of facial muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012899","label":"Handgrip myotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012900","label":"Myotonia of the face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030842","label":"Choking episodes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025425","label":"Laryngospasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003740","label":"Myotonia with warm-up phenomenon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012904","label":"Cold-sensitive myotonia","frequency":"Excluded (0%)","criteria":null}]}}