{"orpha":614,"name":"Thomsen and Becker disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Myotonia congenita"],"definition":"A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-614/","orphanet_url":"https://www.orpha.net/en/disease/detail/614","names":{"fr":{"name":"Myotonie congénitale de Thomsen et Becker","definition":"Canalopathie neurologique musculaire génétique rare caractérisée par une difficulté à la décontraction musculaire après contraction (myotonie)."},"de":{"name":"Myotonia congenita Typ Thomsen und Becker","synonyms":["Myotonia congenita"],"definition":"Eine seltene, genetisch bedingte Ionenkanalerkrankung der Skelettmuskulatur, die durch eine verlangsamte Muskelrelaxation nach der Kontraktion (Myotonie) gekennzeichnet ist."},"es":{"name":"Enfermedad de Thomsen y Becker","definition":"Es una canalopatía genética y poco frecuente del músculo esquelético caracterizada por una relajación muscular lenta después de la contracción (miotonía)."},"it":{"name":"Malattia di Thomsen e Becker","definition":"Si tratta di una canalopatia muscolo-scheletrica genetica rara, caratterizzata da un rilassamento muscolare lento dopo la contrazione (miotonia)."},"nl":{"name":"Ziekte van Thomsen en Becker","synonyms":["Myotonia congenita"],"definition":"Een zeldzame, genetische kanalopathie van de skeletspieren gekarakteriseerd door trage spierrelaxatie na contractie (myotonie)."},"pt":{"name":"Doença de Thomsen e Becker","synonyms":["Miotonia congénita"],"definition":"A miotonia congénita é caracterizada por relaxamento muscular lento, associado a hiperexcitação das fibras musculares."},"pl":{"name":"Choroba Thomsena i Beckera","synonyms":["Miotonia wrodzona"]},"cs":{"name":"Thomsenova a Beckerova choroba","synonyms":["Kongenitální myotonie","Thomsenova a Beckerova nemoc","Thomsenova vrozená myotonie"]},"uk":{"name":"Хвороба Томсена і Беккера","synonyms":["Вроджена міотонія"],"definition":"A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia)."},"zh":{"name":"先天性肌强直","synonyms":["先天性肌强直"]},"tr":{"name":"Thomsen ve Becker hastalığı","synonyms":["Miyotoni konjenita"]}},"xrefs":[{"source":"OMIM","code":"160800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"255700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C71.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1916703439"},{"source":"MONDO","code":"0009710","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027127","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12301","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10028655","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98115,"name":"OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206973,"name":"Congenital myotonia","classifications":[156,181]},{"orpha":98739,"name":"Neurological muscular channelopathy due to a genetic chloride channel defect","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CLCN1","name":"chloride voltage-gated channel 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301529[PMID]","hgnc":"2019","ensembl":"ENSG00000188037","omim":"118425","loci":["7q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"1822774[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.3,"area":"Finland","status":"Validated","source":"9598722[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Italy","status":"Validated","source":"7161034[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Netherlands","status":"Validated","source":"29606556[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.52,"area":"United Kingdom","status":"Validated","source":"23516313[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-28","source":"32966006[PMID]_20301529[PMID]_35170402[PMID]","terms":[{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"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:0002486","label":"Myotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003740","label":"Myotonia with warm-up phenomenon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009063","label":"Progressive distal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null}]}}