{"orpha":972,"name":"Hereditary continuous muscle fiber activity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-972/","orphanet_url":"https://www.orpha.net/en/disease/detail/972","names":{"fr":{"name":"Activité continue familiale de la fibre musculaire","definition":"Myopathie non dystrophique rare caractérisée par une myokymie généralisée et une augmentation du tonus musculaire associées à un retard dans le développement moteur, une raideur des jambes, une démarche spastique, une hyperréflexie et un signe de Babinski positif. Les symptômes peuvent être aggravés par une maladie fébrile ou une anesthésie."},"de":{"name":"Muskuläre Daueraktivität, hereditäre","synonyms":["Isaacs-Mertens-Syndrom"]},"es":{"name":"Actividad continua de la fibra muscular hereditaria","definition":"La actividad continua de la fibra muscular hereditaria, es una miopatía no distrófica poco frecuente caracterizada por mioquimia generalizada y aumento del tono muscular asociado a retraso del desarrollo motor, rigidez de las piernas, marcha espástica, hiperreflexia y signo de Babinski. Los síntomas pueden empeorar debido a una enfermedad febril o anestesia."},"it":{"name":"Attività continua ereditaria delle fibre muscolari","definition":"L'attività continua ereditaria delle fibre muscolari è una miopatia rara non distrofica, caratterizzata da miochimia generalizzata e aumento del tono muscolare, associati a ritardo dello sviluppo motorio, rigidità delle gambe, andatura spastica, iperreflessia e segno di Babinski. Le malattie febbrili e l'anestesia possono peggiorare i sintomi."},"nl":{"name":"Erfelijke continue spiervezelactiviteit","definition":"Erfelijke continue spiervezelactiviteit is een zeldzame, niet-dystrofische myopathie die gekarakteriseerd wordt door gegeneraliseerde myokymie en verhoogde spiertonus, geassocieerd met vertraagde motorische mijlpalen, stijfheid van de benen, spastische gang, hyperreflexie en teken van Babinski. Symptomen worden mogelijk verergerd door febriele ziekte of anesthesie."},"pt":{"name":"Atividade contínua das fibras musculares hereditária","synonyms":["Síndrome Isaacs-Mertens"]},"pl":{"name":"Dziedziczna ciągła aktywność włókien mięśniowych","synonyms":["Zespół Isaacsa i Mertens"],"definition":"*Dziedziczna ciągła aktywność włókien mięśniowych jest rzadką miopatią o typie niedostroficznym, która charakteryzuje się uogólnionymi miokimiami (drganiami włókienkowymi mięśni) i zwiększonym napięciem mięśniowym, z towarzyszącym opóźnieniem kamieni milowych w rozwoju ruchowym, sztywnością kończyn dolnych, spastycznym chodem, wygórowaniem odruchów i obecnym objawem Babińskiego. Gorączka lub znieczulenie mogą nasilać objawy choroby."},"cs":{"name":"Dědičná kontinuální aktivita svalových vláken"},"uk":{"name":"Спадкова безперервна активність мязових волокон","definition":"Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia."},"zh":{"name":"遗传性持续肌纤维活动"},"tr":{"name":"Kalıtsal sürekli kas lifi aktivitesi"}},"xrefs":[{"source":"OMIM","code":"160120","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1034981351"},{"source":"MONDO","code":"0019943","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563545","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834559","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1512","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98741,"name":"Neurological muscular channelopathy due to a genetic potassium channel defect","classifications":[156,181]},{"orpha":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KCNA1","name":"potassium voltage-gated channel subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17136396[PMID]","hgnc":"6218","ensembl":"ENSG00000111262","omim":"176260","loci":["12p13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":34.0,"area":"Worldwide","status":"Validated","source":"6703941[PMID]_17136396[PMID]_1170284[PMID]_9528033[PMID]_889293[PMID]_3504247[PMID]_1647493[PMID]_17136396[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"6703941[PMID]_17136396[PMID]_1170284[PMID]_9528033[PMID]_889293[PMID]_3504247[PMID]_1647493[PMID]_17136396[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}