{"orpha":206575,"name":"Rippling muscle disease with myasthenia gravis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acquired rippling muscle disease","Immune-mediated rippling muscle disease"],"definition":"Rippling muscle disease with myasthenia gravis is a rare, acquired, neuromuscular disease characterized by <i>CAV3</i> mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206575/","orphanet_url":"https://www.orpha.net/en/disease/detail/206575","names":{"fr":{"name":"Rippling muscle disease avec myasthenia gravis","definition":"Maladie neuromusculaire rare et acquise, caractérisée par une maladie musculaire ondulatoire sans mutation dans le gène <i>CAV3</i> associée à une myasthénie grave médiée par les anticorps dirigés contre les récepteurs de l'acétylcholine. Les patients présentent typiquement des ondulations musculaires électriquement neutres provoquées par l'exercice, accompagnées de myalgies, en association avec des symptômes généralisés de myasthénie grave (ptosis, diplopie, faiblesse du cou, dysphagie et dyspnée)."},"de":{"name":"Rippling-Muskel-Krankheit mit Myasthenia gravis","synonyms":["Rippling-Muskel-Krankheit, erworbene","Rippling-Muskel-Krankheit, immunvermittelte"]},"es":{"name":"Enfermedad muscular ondulante asociada a miastenia gravis","synonyms":["Enfermedad muscular ondulante adquirida","Enfermedad muscular ondulante inmunomediada"],"definition":"La enfermedad muscular ondulante asociada a miastenia gravis, es una enfermedad neuromuscular, adquirida y poco frecuente, caracterizada por enfermedad muscular ondulante negativa para mutaciones en <i>CAV3</i> asociada a miastenia gravis mediada por anticuerpos del receptor de acetilcolina. Por lo general, los afectados presentan ondulación muscular eléctricamente silenciosa inducida por el ejercicio y mialgia, en combinación con síntomas de miastenia gravis generalizada (ptosis, diplopía, debilidad cervical, disfagia y disnea)."},"it":{"name":"Malattia da increspatura muscolare con miastenia grave","synonyms":["Malattia da increspatura muscolare immunomediata","Miopatia con increspatura muscolare con miastenia gravis"],"definition":"La malattia da increspatura muscolare con miastenia grave è una malattia neuromuscolare acquisita rara, caratterizzata da increspatura muscolare negativa alle mutazioni del gene <i>CAV3</i>, associata a miastenia grave mediata dagli anticorpi diretti contro il recettore dell'acetilcolina. Di solito i pazienti presentano increspatura muscolare indotta dall'esercizio fisico, silente a livello elettrico, con mialgia, associata ai segni clinici caratteristici della miastenia grave generalizzata (ptosi, diplopia, debolezza del collo, disfagia e dispnea)."},"nl":{"name":"Rippling-spierziekte met myasthenia gravis","synonyms":["Immuun-gemedieerde golvende spierziekte","Verworven golvende spierziekte"],"definition":"Rippling-spierziekte met myasthenia gravis is een zeldzame, verworven neuromusculaire ziekte die gekarakteriseerd wordt door <i>CAV3</i>-mutatienegatieve golvende spierziekte geassocieerd met myasthenia gravis gemedieerd door antilichamen tegen acetylcholinereceptor. Patiënten vertonen doorgaans door fysieke inspanning geïnduceerde golvende bewegingen van de spieren zonder elektrische activiteit en spierpijn, in combinatie met symptomen van gegeneraliseerde myasthenia gravis (ptose, diplopie, zwakheid van de nek, dysfagie en dyspneu)."},"pt":{"name":"Doença muscular com ondulações com miastenia grave"},"pl":{"name":"Miopatia z falowaniem mięśni z miastenią","synonyms":["Immunozależna miopatia z falowaniem mięśni","Nabyta miopatia z falowaniem mięśni"],"definition":"*Miopatia z falowaniem mięśni z miastenią jest rzadką, nabytą chorobą nerwowo-mięśniową, która charakteryzuje chorobą mięśni z objawem falowania, bez mutacji w genie CAV3, z towarzyszącą miastenią, zależną od obecności przeciwciał przeciwko receptorom dla acetylocholiny. U pacjentów zwykle występuje indukowane wysiłkiem elektrycznie obojętne falowanie mięśni z bólami mięśni oraz uogólnione objawy miastenii (opadanie powiek, podwójne widzenie, osłabienie szyi, zaburzenia połykania i duszność)."},"cs":{"name":"Rippling muscle disease s myasthenia gravis","synonyms":["Získaná rippling muscle disease","Imunitně mediovaná rippling muscle disease"]},"uk":{"name":"Хвороба періодичних мязових спазмів при міастенії гравіс","synonyms":["Набута хвороба пульсуючих мязів","Імуноопосередкована хвороба пульсації мязів"],"definition":"Rippling muscle disease with myasthenia gravis is a rare, acquired, neuromuscular disease characterized by <i>CAV3</i> mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea)."},"zh":{"name":"波纹肌病伴重症肌无力","synonyms":["免疫介导的波纹肌病"],"definition":"波纹肌肉病伴重症肌无力是一种罕见的获得性神经肌肉疾病，其特征为无CAV3突变的波纹肌病，与乙酰胆碱受体抗体介导的重症肌无力有关。患者通常表现为运动诱发的肌肉波动伴肌痛，全身性重症肌无力症状（上睑下垂、复视、颈肌无力、吞咽困难和呼吸困难）。"},"tr":{"name":"Miyastenia gravis ile seyreden dalgalanan kas hastalığı","synonyms":["Edinsel dalgalı kas hastalığı","Bağışıklık-aracılı dalgalı kas hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"G70.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C60.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"327350590"},{"source":"MONDO","code":"0016100","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749335","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":464764,"name":"Immune-mediated acquired neuromuscular junction disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}