{"orpha":612,"name":"Potassium-aggravated myotonia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["K+-aggravated myotonia","K-aggravated myotonia","PAM"],"definition":"A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-612/","orphanet_url":"https://www.orpha.net/en/disease/detail/612","names":{"fr":{"name":"Myotonie aggravée par le potassium","synonyms":["MAP"],"definition":"Anomalie du canal sodium présentant une forme pure de myotonie considérablement aggravée par l'ingestion de potassium, avec une sensibilité au froid variable et sans faiblesse épisodique. La maladie se divise en trois groupes : myotonie fluctuante, myotonie permanente et la myotonie sensible à l'acétazolamide."},"de":{"name":"Myotonie, Kalium-sensitive","definition":"Eine muskuläre Ionenkanalerkrankung, die sich durch eine reine Myotonie äußert, die durch Kaliumeinnahme dramatisch verschlimmert wird, mit variabler Kälteempfindlichkeit und ohne episodische Schwäche. Diese Gruppe umfasst drei Formen: Myotonia fluctuans, Myotonia permanens und Acetazolamid-responsive Myotonie."},"es":{"name":"Miotonía agravada por potasio","synonyms":["Miotonía agravada por K","Miotonía agravada por K+","PAM"],"definition":"Es una canalopatía muscular que se presenta con una miotonía pura agravada dramáticamente por la ingestión de potasio, sensibilidad variable al frío y sin debilidad episódica. Este grupo incluye tres formas: miotonía fluctuans, miotonía permanens y miotonía sensible a la acetazolamida (consulte estos términos)."},"it":{"name":"Miotonia aggravata dal potassio","synonyms":["Miotonia aggravata dal K+","Miotonia aggravata dal K-","PAM"],"definition":"La miotonia aggravata dal potassio (PAM) è una canalopatia muscolare, che si manifesta come miotonia pura, fortemente aggravata dall'ingestione di potassio, con variabile sensibilità al freddo in assenza di debolezza episodica. Si conoscono tre forme della malattia: la miotonia fluttuante, la miotonia permanente e la miotonia con risposta all'acetazolamide (si vedano questi termini)."},"nl":{"name":"Kaliumgevoelige myotonie","synonyms":["K+-gevoelige myotonie","K-gevoelige myotonie","PAM"],"definition":"Een kanalopathie van spier, die zich presenteert met een zuivere myotonie die dramatisch verslechtert bij inname van kalium, met variabele koudegevoeligheid en geen episodische zwakte. Deze groep omvat drie vormen: myotonia fluctuans, myotonia permanens, en acetazolamideresponsieve myotonie."},"pt":{"name":"Miotonia agravada pelo potássio","definition":"A miotonia agravada pelo potássio (PAM) é uma canalopatia muscular apresentando uma miotonia pura dramaticamente agravada pela ingestão de potássio, com sensibilidade ao frio variável e sem fraqueza episódica. Este grupo inclui três formas: miotonia fluctuans, miotonia permanens e miotonia responsiva à acetazolamida (ver estes termos)."},"pl":{"name":"Miotonia potasozależna","synonyms":["K+-aggravated myotonia","K-aggravated myotonia","PAM"]},"cs":{"name":"Myotonie zhoršená podáním draslíku","synonyms":["Myotonie zhoršená K+","Myotonie zhoršená draslíkem","PAM"]},"uk":{"name":"Міотонія, що посилюється при прийомі калію","synonyms":["K+-обтяжена міотонія","К-обтяжена міотонія","PAM"],"definition":"A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia."},"zh":{"name":"钾加重性肌强直","synonyms":["钾加重性肌强直"]},"tr":{"name":"Potasyum- ağırlaşmış miyotoni","synonyms":["PAM","K-ağırlaşmış miyotoni","K + - ağırlaşmış miyotoni"]}},"xrefs":[{"source":"OMIM","code":"608390","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0018959","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18959","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538353","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931826","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4459","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":[{"orpha":99736,"name":"Acetazolamide-responsive myotonia","type":"Disease"},{"orpha":99734,"name":"Myotonia fluctuans","type":"Disease"},{"orpha":99735,"name":"Myotonia permanens","type":"Disease"}],"genes":[],"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":null}