{"orpha":97238,"name":"Rippling muscle disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97238/","orphanet_url":"https://www.orpha.net/en/disease/detail/97238","names":{"fr":{"name":"Rippling muscle disease","synonyms":["Maladie des muscles ondulants"],"definition":"Maladie neuromusculaire génétique rare, caractérisée par une hyperirritabilité musculaire déclenchée par l'étirement, la percussion ou le mouvement. Les patients présentent des contractures musculaires ondulatoires et électriquement silencieuses (ondulations), des bosses, une raideur douloureuse et une hypertrophie musculaires, généralement accompagnées d'une élévation du taux de créatine kinase sérique."},"de":{"name":"Rippling-Muskel-Krankheit","synonyms":["RMD","Rippling-muscle-Krankheit"]},"es":{"name":"Enfermedad muscular ondulante","definition":"La enfermedad muscular ondulante, es un trastorno neuromuscular, genético y poco frecuente, caracterizado por hiperirritabilidad muscular desencadenada por estiramiento, percusión o movimiento. Los afectados presentan contracciones musculares eléctricamente silenciosas, ondulantes, contracturas musculares, rigidez muscular dolorosa e hipertrofia muscular y, por lo general, un incremento de la creatinquinasa sérica."},"it":{"name":"Malattia da increspatura muscolare","definition":"La malattia da increspatura muscolare è una malattia neuromuscolare genetica rara, caratterizzata da iper-irritabilità muscolare scatenata dallo stiramento, dalla percussione o dal movimento. I pazienti presentano contrazioni muscolari simili a delle onde, silenti a livello elettrico (increspatura), mioedema, rigidità muscolare dolorosa ed ipertrofia muscolare, di solito associate a livelli elevati di creatin-chinasi nel siero."},"nl":{"name":"Rippling-spierziekte","definition":"Rippling-spierziekte is een zeldzame, genetische, neuromusculaire stoornis die gekarakteriseerd wordt door hyperprikkelbaarheid van spieren uitgelokt door uitrekking, percussie of beweging. Patiënten vertonen golfachtige spiercontracties zonder elektrische activiteit (rippling), lokale contractuur van skeletspier geïnduceerd door aantikken (mounding), pijnlijke spierstijfheid en hypertrofie van spieren, meestal met verhoogd creatinekinase in het serum."},"pt":{"name":"Doença de músculo rippling"},"pl":{"name":"Miopatia z falowaniem mięśni"},"cs":{"name":"Nemoc projevující se řetězovou reakcí svalových křečí a bolestí, ztuhlostí a pomalou relaxací svalů"},"uk":{"name":"Хвороба періодичних мязових спазмів","definition":"Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase."},"zh":{"name":"波纹肌肉病","definition":"波纹性肌病是一种罕见的遗传性神经肌肉疾病，其特征是由拉伸、撞击或运动引起的肌肉过度敏感。患者表现为波纹状且在肌电图中无记录的肌肉收缩、肌肉隆起、疼痛性肌肉僵硬和肌肉肥大，通常伴有血清肌酸激酶升高。"},"tr":{"name":"Dalgalanan kas hastalığı"}},"xrefs":[{"source":"OMIM","code":"600332","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606072","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C71.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"894802822"},{"source":"UMLS","code":"C1853698","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9164","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069417","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":265,"name":"Autosomal dominant limb-girdle muscular dystrophy type 1C","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]},{"orpha":207078,"name":"Qualitative or quantitative defects of caveolin-3","classifications":[156]}],"children":[],"genes":[{"symbol":"CAV3","name":"caveolin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12557291[PMID]_15668980[PMID]","hgnc":"1529","ensembl":"ENSG00000182533","omim":"601253","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":59.0,"area":"Worldwide","status":"Validated","source":"7936247[PMID]_9537420[PMID]_11001938[PMID]_11756609[PMID]_12939441[PMID]_15668980[PMID]_16247063[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"7936247[PMID]_9537420[PMID]_11001938[PMID]_11756609[PMID]_12939441[PMID]_15668980[PMID]_16247063[PMID]_ORPHANET"}],"phenotypes":null}