{"orpha":466650,"name":"Exercise-induced malignant hyperthermia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Exertional heat stroke"],"definition":"A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466650/","orphanet_url":"https://www.orpha.net/en/disease/detail/466650","names":{"fr":{"name":"Hyperthermie maligne induite par l'exercice","synonyms":["Hyperthermie maligne d'effort"],"definition":"Maladie rare avec hyperthermie maligne caractérisée par une hyperthermie létale causée par l'exercice physique, avec une température corporelle supérieure à 40°C et des signes d'encéphalopathie allant de la confusion aux convulsions ou au coma. L'incidence augmente avec l'élévation de la température ambiante et de l'humidité relative. Les signes cliniques peuvent inclure une rhabdomyolyse (avec une myalgie, une faiblesse musculaire et une myoglobinurie), une tachycardie et, dans les cas graves, une défaillance de plusieurs organes."},"de":{"name":"Maligne Hyperthermie, anstrengungsinduzierte","synonyms":["Hitzeerschöpfung"],"definition":"Eine seltene Störung mit maligner Hyperthermie, die durch belastungsinduzierte lebensbedrohliche Überwärmung mit einer Körpertemperatur von über 40 °C und Anzeichen einer Enzephalopathie von Verwirrung bis hin zu Krämpfen oder Koma gekennzeichnet ist. Die Inzidenz nimmt mit steigender Umgebungstemperatur und relativer Luftfeuchtigkeit zu. Zu den Manifestationen können Rhabdomyolyse (mit Myalgie, Muskelschwäche und Myoglobinurie), Tachykardie und in schweren Fällen Multiorganversagen gehören."},"es":{"name":"Hipertermia maligna inducida por el ejercicio","synonyms":["Golpe de calor por esfuerzo"],"definition":"Es una enfermedad poco frecuente con hipertermia maligna que se caracteriza por una hipertermia potencialmente mortal inducida por el ejercicio con una temperatura corporal superior a 40°C y signos de encefalopatía que van desde confusión hasta crisis o coma. La incidencia aumenta con la temperatura ambiente y la humedad relativa. Las manifestaciones pueden incluir rabdomiólisis (que se presenta con mialgia, debilidad muscular y mioglobinuria), taquicardia y, en casos graves, fallo multiorgánico."},"it":{"name":"Ipertermia maligna indotta dall'esercizio fisico","definition":"Si tratta di una malattia rara associata all'ipertermia maligna, caratterizzata dall'ipertermia potenzialmente letale indotta dall'esercizio fisico, con una temperatura corporea superiore ai 40°C e segni di encefalopatia che vanno dalla confusione, alle convulsioni o al coma. L'incidenza aumenta con l'aumentare della temperatura ambientale e dell'umidità relativa. I segni clinici comprendono la rabdomiolisi (che si manifesta con mialgia, debolezza muscolare e mioglobinuria), la tachicardia e, nei casi più gravi, l'insufficienza multiorgano."},"nl":{"name":"Maligne hyperthermie geïnduceerd door lichaamsbeweging","synonyms":["Inspanningsgebonden hitteberoerte"],"definition":"Een zeldzame aandoening met maligne hyperthermie, gekarakteriseerd door inspanningsgeïnduceerde, levensbedreigende hyperthermie met een lichaamstemperatuur boven 40°C en verschijnselen van encefalopathie gaande van verwardheid to convulsies of coma. De incidentie neemt toe met verhoogde omgevingstemperatuur en relatieve vochtigheid. Mogelijke manifestaties zijn onder meer rabdomyolyse (dat zich presenteert met myalgie, spierzwakte en myoglobinurie), tachycardie, en in ernstige gevallen multiorgaanfalen."},"pt":{"name":"Hipertermia maligna induzida pelo exercício"},"pl":{"name":"Hipertermia złośliwa indukowana wysiłkiem fizycznym","synonyms":["Exertional heat stroke"]},"cs":{"name":"Zátěžová maligní hypertermie","synonyms":["Exertional heat stroke","Úpal z námahy"]},"uk":{"name":"Злоякісна гіпертермія, спричинена фізичним навантаженням","synonyms":["Тепловий удар від перенапруження"],"definition":"A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure."},"zh":{"name":"运动诱发的恶性高热","synonyms":["劳力性热射病"],"definition":"是一种罕见的恶性高热病，其特点是运动引起的高热病危及生命，体温超过40摄氏度，并出现从神志不清到抽搐或昏迷的脑病症状。发病率随环境温度和相对湿度的升高而增加。表现可有横纹肌溶解症(出现肌痛、肌无力和肌红蛋白尿)、心动过速，严重时可出现多器官功能衰竭。"},"tr":{"name":"Egzersize bağlı habis hipertermi","synonyms":["Fiziksel zorlayıcı sıcak inmesi"]}},"xrefs":[{"source":"ICD-10","code":"T88.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"NF06.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"833004294"},{"source":"MONDO","code":"0018752","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5700399","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":466658,"name":"Rare disease with malignant hyperthermia","classifications":[181]}],"children":[],"genes":[{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23628358[PMID]","hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22538307[PMID]_23476141[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-28","source":"30725820[PMID]_28128878[PMID]_33190635[PMID]","terms":[{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030850","label":"Abnormal pulse pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011703","label":"Sinus tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005135","label":"Abnormal T-wave","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030830","label":"Crackles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031258","label":"Delirium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003710","label":"Exercise-induced muscle cramps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012417","label":"Hypocapnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100520","label":"Oliguria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012250","label":"ST segment depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005521","label":"Disseminated intravascular coagulation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null}]}}