{"orpha":684,"name":"Paramyotonia congenita of Von Eulenburg","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Paramyotonia congenita"],"definition":"A rare genetic skeletal muscle ion channel disorder, part of the non-dystrophic myotonias, characterized by exercise and/or cold-exacerbated myotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-684/","orphanet_url":"https://www.orpha.net/en/disease/detail/684","names":{"fr":{"name":"Paramyotonie d'Eulenburg","synonyms":["Paramyotonie congénitale"],"definition":"Maladie génétique rare du canal ionique du muscle squelettique, faisant partie des myotonies non dystrophiques, caractérisée par une myotonie exacerbée par l'exercice et/ou par le froid."},"de":{"name":"Paramyotonia congenita Eulenburg","definition":"Eine seltene neuromuskuläre Krankheit die aus einer genetisch bedingte Ionenkanalstörung der Skelettmuskulatur resultiert. Sie gehört zu den nicht-dystrophischen Myotonien und ist gekennzeichnet durch belastungsbedingte und/oder durch Kälte verschlimmerte Myotonien."},"es":{"name":"Paramiotonía congénita de Von Eulenburg","synonyms":["Paramiotonía congénita"],"definition":"Es un trastorno genético poco frecuente de los canales iónicos del músculo esquelético que forma parte de las miotonías no distróficas. Está caracterizado por miotonía exacerbada por el ejercicio y/o por el frío."},"it":{"name":"Paramiotonia congenita di von Eulenburg","synonyms":["Paramiotonia congenita"]},"nl":{"name":"Paramyotonia congenita van Von Eulenburg","synonyms":["Paramyotonia congenita"],"definition":"Een zeldzame, genetische stoornis van ionkanaal in skeletspier en een niet-dystrofische myotonie, gekenmerkt door myotonie die verergerd wordt door inspanning en/of koude."},"pt":{"name":"Paramiotonia congénita de Von Eulenburg","definition":"Doença genética rara do canal iónico do músculo esquelético, parte das miotonias não distróficas, caracterizada por miotonia exacerbada pelo exercício e/ou pelo frio."},"pl":{"name":"Paramiotonia wrodzona Von Eulenburga","synonyms":["Paramiotonia wrodzona"],"definition":"Paramiotonia wrodzona to mięśniowa kanałopatia sodowa spowodowana mutacjami o typie zmiany sensu w genie SCN4A (17q23.3) kodującym podjednostkę alfa kanału sodowego bramkowanego napięciem Nav1.4 w mięśniach szkieletowych. Patologiczne warianty SCN4A prowadzą do zwiększonej pobudliwości błony. Dochodzi do zmiany szybkiej fazy inaktywacji kanałów sodowych, która zwykle następuje po skurczu mięśni. Kanały sodowe ulegają przedwczesnej reaktywacji i generowane są nowe potencjały czynnościowe, co skutkuje wyzwoleniem miotonii."},"cs":{"name":"Eulenburgova vrozená paramyotonie","synonyms":["Vrozená paramyotonie"]},"uk":{"name":"Вроджена параміотонія фон Ейленберга","synonyms":["Вроджена параміотонія"],"definition":"A rare genetic skeletal muscle ion channel disorder, part of the non-dystrophic myotonias, characterized by exercise and/or cold-exacerbated myotonia."},"zh":{"name":"Von Eulenburg先天性副肌强直","synonyms":["先天性副肌强直"]},"tr":{"name":"Von Eulenburg'un Paramyotonia konjenitası","synonyms":["Paramiyotoni konjenita"]}},"xrefs":[{"source":"OMIM","code":"168300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C74.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1740060527"},{"source":"MONDO","code":"0008195","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221055","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7325","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088318","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206970,"name":"Myotonic syndrome","classifications":[156,181]},{"orpha":98738,"name":"Neurological muscular channelopathy due to a genetic sodium channel defect","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":"10369308[PMID]","hgnc":"10591","ensembl":"ENSG00000007314","omim":"603967","loci":["17q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.94,"area":"Netherlands","status":"Validated","source":"29606556[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_23516313[PMID]_29606556[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"United Kingdom","status":"Validated","source":"23516313[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-09","source":"8424309[PMID]_19015483[PMID]_18337100[PMID]_10727489[PMID]_21220685[PMID]","terms":[{"hpo":"HP:0031372","label":"Cold paresis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012904","label":"Cold-sensitive myotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012892","label":"Facial muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012899","label":"Handgrip myotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012900","label":"Myotonia of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012901","label":"Myotonia of the jaw","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012903","label":"Myotonia of the upper limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004875","label":"Neonatal inspiratory stridor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011809","label":"Paradoxical myotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010548","label":"Percussion myotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011042","label":"Abnormality of potassium homeostasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008153","label":"Periodic hypokalemic paresis","frequency":"Occasional (29-5%)","criteria":null}]}}