{"orpha":99735,"name":"Myotonia permanens","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99735/","orphanet_url":"https://www.orpha.net/en/disease/detail/99735","names":{"fr":{"name":"Myotonie permanente","definition":"Forme très rare, persistante et plus grave de myotonie aggravée par le potassium (MAP)."},"de":{"name":"Myotonia permanens","definition":"Eine sehr seltene, persistierende und besonders schwere Form der Kaliumsensitiven Myotonie (PAM, potassium-aggravated myotonia)."},"es":{"name":"Miotonía permanente","definition":"Es la forma más grave y persistente de las miotonías agravadas por potasio (MAP, consulte este término)."},"it":{"name":"Miotonia permanente","definition":"La miotonia permanente è una forma molto rara, persistente e molto grave della miotonia aggravata dal potassio (PAM; si veda questo termine)."},"nl":{"name":"Myotonia permanens","definition":"Een zeer zeldzame, aanhoudende en ernstigere vorm van kaliumgevoelige myotonie (PAM)."},"pt":{"name":"Miotonia permanens","definition":"A miotonia permanens é uma forma muito rara, persistente e mais grave de miotonia agravada pelo potássio (PAM, ver este termo)."},"pl":{"name":"Miotonia z objawami stałymi"},"cs":{"name":"Myotonia permanens"},"uk":{"name":"Міотонія перманентна","definition":"A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM)."},"zh":{"name":"肌强直持续状态","definition":"永久性肌强直是一种非常罕见的、持续的、更严重的钾加重型肌强直(PAM，见该词条)。"},"tr":{"name":"Kalıcı 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":"2133644550"},{"source":"MONDO","code":"0020482","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848361","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":"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003720","label":"Generalized muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","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:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null}]}}