{"orpha":84142,"name":"Isaacs syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Continuous muscle fiber activity syndrome","Isaacs-Mertens syndrome","Quantal squander syndrome"],"definition":"Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-84142/","orphanet_url":"https://www.orpha.net/en/disease/detail/84142","names":{"fr":{"name":"Syndrome d'Isaacs","synonyms":["Syndrome d'Isaacs-Mertens","Syndrome d'activité continue des fibres musculaires"],"definition":"Le syndrome d'Isaac est une anomalie des neurones moteurs périphériques à médiation immunitaire caractérisé par une activité continue des fibres musculaires au repos, provoquant des raideurs musculaires, des crampes, une myokimie et une pseudomyotonie."},"de":{"name":"Isaacs-Syndrom","synonyms":["Quantal-Squander-Syndrom","Syndrom der kontinuierlichen Muskelfaseraktivität","Isaac-Mertens-Syndrom"],"definition":"Das Isaac-Syndrom ist eine immun-vermittelte periphere Motorneuron-Krankheit. Aus der kontinuierlichen Aktivität der Muskelfasern in Ruhe resultieren Muskelsteife, Muskelkrämpfe, Myokymie und Pseudomyotonie."},"es":{"name":"Síndrome de Isaacs","synonyms":["Síndrome de Isaacs-Mertens","Síndrome de actividad continua de la fibra muscular"],"definition":"El síndrome de Isaac es un trastorno inmunomediado de la neurona motora periférica, caracterizado por una actividad continua de la fibra muscular en reposo lo que da lugar a rigidez muscular, calambres, mioquimia y pseudomiotonía."},"it":{"name":"Sindrome di Isaac","synonyms":["Sindrome \"quantal squander\"","Sindrome da attività continua delle fibre muscolari","Sindrome di Isaac-Mertens","Sindrome “quantal squander”"],"definition":"La sindrome di Isaac è una malattia immunomediata dei motoneuroni periferici caratterizzata da un'attività continua delle fibre muscolari a riposo, che provoca rigidità muscolare, crampi, miochimia e pseudomiotonia."},"nl":{"name":"Syndroom van Isaacs","synonyms":["Continue spiervezelactiviteit-syndroom","Quantal squander-syndroom","Syndroom van Isaacs-Mertens"],"definition":"Isaacsyndroom is een immuungemedieerde aandoening van de perifere motorische zenuwcellen die wordt gekarakteriseerd door aanhoudende activiteit van spiervezels bij rust, wat leidt tot spierstijfheid, spierkrampen, myokymie en pseudomyotonie."},"pt":{"name":"Síndrome Isaacs","synonyms":["Síndrome Isaacs-Mertens","Síndrome de actividade contínua das fibras musculares"]},"pl":{"name":"Zespół Isaaca","synonyms":["Nadpobudliwość nerwów obwodowych","Neuromiotonia nabyta","Quantal squander syndrome","Zespół Isaaca i Mertensa","Zespół stałej aktywności włókien mięśniowych"]},"cs":{"name":"Isaacův syndrom","synonyms":["Získaná neuromyotonie","Syndrom trvalé aktivity svalových vláken","Periferní nervová hyperexcitabilita","Isaacův-Mertensův syndrom","Isaac-Mertensův syndrom"]},"uk":{"name":"Синдром Ісаака","synonyms":["Синдром безперервної активності мязових волокон","Синдром Айзека-Мертенса","Синдром квантального марнотратства"],"definition":"Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia."},"zh":{"name":"Isaac综合征","synonyms":["持续性肌纤维活动综合征"]},"tr":{"name":"Isaac sendromu","synonyms":["Edinsel nöromiyotoni","Isaac-Mertens sendromu","Quantal skandal sendromu","Sürekli kas lifi aktivite sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G71.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C71.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"646523932"},{"source":"MONDO","code":"0019399","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020386","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0242287","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6793","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":221114,"name":"Acquired peripheral movement disorder","classifications":[181]},{"orpha":98750,"name":"Autoimmune neurological channelopathy","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-08-09","source":"25736532[PMID]","terms":[{"hpo":"HP:5000005","label":"Anti-CASPR2","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100288","label":"EMG: myokymic discharges","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010546","label":"Muscle fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002411","label":"Myokymia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very rare (<4-1%)","criteria":null}]}}