{"orpha":581271,"name":"Cramp-fasciculation syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic neurological disorder characterized by adult onset of peripheral nerve hyperexcitability causing painful muscle cramps and fasciculations in the limbs, hyperreflexia, stiffness, and muscle pain. Other hypersensitivity-hyperexcitability symptoms are asthma, gastroesophageal reflux, migraine, tremor, cold hyperalgesia, and cardiac conduction defects. Autonomic signs and symptoms, neuropathic pain, cognitive deficits, and anxiety are also observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-581271/","orphanet_url":"https://www.orpha.net/en/disease/detail/581271","names":{"fr":{"name":"Syndrome crampes-fasciculations","definition":"Maladie neurologique génétique rare caractérisée par l'apparition, à l'âge adulte, d'une hyperexcitabilité du nerf périphérique à l'origine de crampes et fasciculations musculaires douloureuses dans les membres, une hyperréflexie, une rigidité et une douleur musculaire. Les autres symptômes d'hypersensibilité-hyperexcitabilité sont asthme, reflux gastro-oesophagien, migraines, tremblements, hyperalgésie au froid et anomalies de la conduction cardiaque. Des signes et symptômes autonomes, une douleur neuropathique, des troubles cognitifs et une anxiété sont également observés."},"de":{"name":"Krampus-Faszikulationssyndrom","synonyms":["Myalgie-Faszikulations-Krampus-Syndrom"],"definition":"Eine seltene neurologische Störung, bei der es im Erwachsenenalter zu einer Übererregbarkeit peripherer Nerven kommt, die schmerzhafte Muskelkrämpfe und Faszikulationen in den Gliedmaßen, Hyperreflexie, Steifheit und Muskelschmerzen verursacht. Weitere Symptome der Hypersensibilität-Hypererregbarkeit sind Asthma, gastroösophagealer Reflux, Migräne, Tremor, Kältehyperalgesie und kardiale Reizleitungsstörungen. Autonome Zeichen und Symptome, neuropathische Schmerzen, kognitive Defizite und Angstzustände werden ebenfalls beobachtet."},"es":{"name":"Síndrome de calambres-fasciculaciones","definition":"Es un trastorno neurológico poco frecuente de origen genético caracterizado por el inicio en la edad adulta de hiperexcitabilidad de los nervios periféricos que causa calambres musculares dolorosos y fasciculaciones en las extremidades, hiperreflexia, rigidez y dolor muscular. Otros síntomas de hipersensibilidad-hiperexcitabilidad son asma, reflujo gastroesofágico, migraña, temblor, hiperalgesia por frío y defectos de la conducción cardíaca. También se observan signos y síntomas autónomos, dolor neuropático, déficits cognitivos y ansiedad."},"it":{"name":"Sindrome da crampi e fascicolazioni"},"nl":{"name":"Spierkramp - fasciculatie-syndroom","definition":"Een zeldzame, genetische neurologische aandoening, gekenmerkt door aanvang in de volwassenheid van hyperexciteerbaarheid van perifere zenuwen, die leidt tot spierkrampen en fasciculaties in ledematen, hyperreflexie, stijfheid, en spierpijn. Overige symptomen van hypersensitiviteit-hyperexciteerbaarheid zijn astma, gastro-oesofageale reflux, migraine, tremor, hyperalgesie door koude, en hartgeleidingsdefecten. Autonome verschijnselen en symptomen, neuropathische pijn, cognitieve functiestoornissen, en angst worden ook waargenomen."},"pt":{"name":"Síndrome cãibra-fasciculação","definition":"Doença neurológica genética rara caracterizada pelo início da hiperexcitabilidade dos nervos periféricos na idade adulta, causando cãibras musculares dolorosas e fasciculações nos membros, hiperreflexia, rigidez e dores musculares. Outros sintomas de hipersensibilidade-hiperexcitabilidade são asma, refluxo gastroesofágico, enxaqueca, tremor, hiperalgesia ao frio e defeitos de condução cardíaca. Também são observados sinais e sintomas autonómicos, dor neuropática, défices cognitivos e ansiedade."},"pl":{"name":"Zespół kurczowo-fascykulacyjny","definition":"Rzadkie genetycznie uwarunkowane zaburzenie neurologiczne o początku w wieku dorosłym, charakteryzujące się nadmierną pobudliwością nerwów obwodowych, powodując bolesne skurcze mięśni i fascykulacje w kończynach, wygórowanie odruchów, sztywność i ból mięśni. Inne objawy nadwrażliwości i nadpobudliwości to astma, refluks żołądkowo-przełykowy, migrena, drżenie, przeczulica bólowa przy ekspozycji na zimno oraz zaburzenia przewodnictwa sercowego. Obserwuje się również objawy z układu autonomicznego, ból neuropatyczny, deficyty poznawcze i zaburzenia lękowe."},"cs":{"name":"Syndrom křečí a fascikulace"},"uk":{"name":"Судомно-фасцикуляторний синдром","definition":"A rare genetic neurological disorder characterized by adult onset of peripheral nerve hyperexcitability causing painful muscle cramps and fasciculations in the limbs, hyperreflexia, stiffness, and muscle pain. Other hypersensitivity-hyperexcitability symptoms are asthma, gastroesophageal reflux, migraine, tremor, cold hyperalgesia, and cardiac conduction defects. Autonomic signs and symptoms, neuropathic pain, cognitive deficits, and anxiety are also observed."},"zh":{"name":"肌痛性痉挛-肌束震颤综合征"},"tr":{"name":"Kramp-fasikülasyon sendromu"}},"xrefs":[{"source":"OMIM","code":"604775","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035586","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751381","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6205","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081974","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98750,"name":"Autoimmune neurological channelopathy","classifications":[181]},{"orpha":423662,"name":"Rare autonomic nervous system disorder","classifications":[181]},{"orpha":434786,"name":"Rare genetic autonomic nervous system disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"TRPA1","name":"transient receptor potential cation channel subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28436534[PMID]","hgnc":"497","ensembl":"ENSG00000104321","omim":"604775","loci":["8q21.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[],"phenotypes":null}