{"orpha":2582,"name":"Myalgia-eosinophilia syndrome associated with tryptophan","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2582/","orphanet_url":"https://www.orpha.net/en/disease/detail/2582","names":{"fr":{"name":"Syndrome d'éosinophilie-myalgies lié au tryptophane","definition":"Maladie systémique rare caractérisée par une myalgie sévère et une éosinophilie périphérique associée à une supplémentation alimentaire en tryptophane. L'arrêt du tryptophane n'a pas pour effet la disparition de symptômes. Le tableau clinique comprend sensibilité musculaire et crampes, fatigue, faiblesse, paresthésie, oedème périphérique, arthralgie, dyspnée, éruptions cutanées, sécheresse de la bouche et développement d'anomalies cutanées de type sclérodermie."},"de":{"name":"Myalgie, eosinophile, Tryptophan-assoziierte","synonyms":["Eosinophilie-Myalgie-Syndrom durch Tryptophan-Zufuhr"]},"es":{"name":"Síndrome de mialgia-eosinofilia ligado al triptófano","definition":"El síndrome de mialgia - eosinofilia ligada a triptófano, es una enfermedad sistémica poco frecuente caracterizada por mialgia grave y eosinofilia periférica asociada a la ingesta de suplementos dietéticos con triptófano. Los síntomas no remiten después de interrumpir la ingesta. La presentación clínica incluye dolorimiento muscular y calambres, fatiga, debilidad, parestesias, edema periférico, artralgias, disnea, erupción cutánea, sequedad de boca y desarrollo de anomalías cutáneas similares a esclerodermia."},"it":{"name":"Sindrome da mialgia ed eosinofilia correlata al triptofano","definition":"La sindrome che associa mialgia ed eosinofilia correlata al triptofano è una malattia sistemica rara, caratterizzata da grave mialgia ed eosinofilia periferica, associata all'integrazione alimentare di triptofano. I sintomi scompaiono con la sospensione del triptofano. Il quadro clinico comprende la dolorabilità e i crampi muscolari, l'affaticamento, la debolezza, le parestesie, l'edema periferico, l'artralgia, la dispnea, le eruzioni cutanee, la secchezza del cavo orale e le anomalie cutanee simili allo scleroderma."},"nl":{"name":"Myalgie - eosinofilie-syndroom geassocieerd met tryptofaan","definition":"Myalgie - eosinofilie-syndroom geassocieerd met tryptofaan is een zeldzame systemische ziekte die gekarakteriseerd wordt door ernstige myalgie en perifere eosinofilie geassocieerd met supplementatie van tryptofaan in het dieet. De symptomen zwakken niet af na stopzetting van de supplementatie van tryptofaan. Het klinisch beeld omvat gevoeligheid en verkramping van de spieren, vermoeidheid, zwakheid, paresthesie, perifeer oedeem, artralgie, dyspneu, huiduitslag, droge mond, en ontwikkeling van sclerodermie-achtige huidanomalieën."},"pt":{"name":"Síndrome de mialgia-eosinofilia associada ao triptofano"},"pl":{"name":"Zespół mialgia-eozynofilia wywołany tryptofanem"},"cs":{"name":"Syndrom zahrnující eozinofilii a myalgii, související s tryptofanem"},"uk":{"name":"Синдром міалгії-еозинофілії, повязаний з триптофаном","definition":"Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities."},"zh":{"name":"色氨酸相关性肌痛-嗜酸性粒细胞增多综合征"},"tr":{"name":"Triptofan -ilişkili miyalji-eozinofili sendromu"}},"xrefs":[{"source":"ICD-10","code":"M35.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"4A43.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1361333197"},{"source":"MONDO","code":"0016822","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016603","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275050","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014952","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":556508,"name":"Rare disorder due to poisoning","classifications":[204]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21702023[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Frequent (79-30%)","criteria":null}]}}