{"orpha":93672,"name":"Juvenile dermatomyositis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Juvenile DM"],"definition":"An early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder with vasculopathy, characterized by proximal and symmetrical muscle weakness, evocative skin lesions, and systemic manifestations. Vasculopathy occurs in the skin, muscle (mainly in the perifascicular area), and sometimes in the intestinal tissue.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93672/","orphanet_url":"https://www.orpha.net/en/disease/detail/93672","names":{"fr":{"name":"Dermatomyosite juvénile","synonyms":["DM juvénile"],"definition":"Forme précoce de dermatomyosite (DM), maladie musculaire inflammatoire systémique et auto-immune avec vasculopathie, caractérisée par une faiblesse musculaire proximale et symétrique, des lésions cutanées évocatrices et des manifestations systémiques. La vasculopathie se manifeste par une atteinte cutanée, musculaire (principalement dans la zone périfasciculaire), et parfois une atteinte du tissu intestinal."},"de":{"name":"Dermatomyositis, juvenile","definition":"Eine früh einsetzende Form der Dermatomyositis (DM), einer systemischen, autoimmunen, entzündlichen Muskelerkrankung mit Vaskulopathie, die durch proximale und symmetrische Muskelschwäche, evokative Hautläsionen und systemische Manifestationen gekennzeichnet ist. Die Vaskulopathie tritt in der Haut, im Muskel (hauptsächlich im perifaszikulären Bereich) und manchmal im Darmgewebe auf."},"es":{"name":"Dermatomiositis juvenil","synonyms":["DM juvenil"],"definition":"Es una forma de dermatomiositis (DM) de inicio precoz, una miopatía inflamatoria sistémica y autoinmune con vasculopatía, caracterizada por debilidad muscular proximal y simétrica, lesiones cutáneas indicativas y manifestaciones sistémicas. La vasculopatía afecta a la piel, al músculo (principalmente en la zona perifascicular) y, en ocasiones, al tejido intestinal."},"it":{"name":"Dermatomiosite giovanile","synonyms":["DM giovanile"],"definition":"Si tratta di una forma ad esordio precoce di dermatomiosite (DM), una malattia muscolare infiammatoria autoimmune sistemica associata a vasculopatia, caratterizzata da debolezza muscolare prossimale e simmetrica, lesioni cutanee caratteristiche e sintomi sistemici. La vasculopatia interessa la cute, i muscoli (in particolare la regione perifascicolare) e, talvolta, i tessuti intestinali."},"nl":{"name":"Juveniele dermatomyositis","synonyms":["Juveniele DM"],"definition":"Een vroeg optredende vorm van dermatomyositis (DM), een systemische auto-immune inflammatoire aandoening van spier met vasculopathie, gekenmerkt door proximale en symmetrische spierzwakte, evocatieve huidlaesies, en systemische manifestaties. Vasculopathie treedt op in huid, spier (voornamelijk in perifasciculair gebied), en soms in darm."},"pt":{"name":"Dermatomiosite juvenil"},"pl":{"name":"Młodzieńcze zapalenie skórno-mięśniowe","synonyms":["Młodzieńcze DM"]},"cs":{"name":"Juvenilní dermatomyozitida","synonyms":["Juvenilní DM"]},"uk":{"name":"Ювенільний дерматоміозит","synonyms":["Ювенільний ЦД"],"definition":"An early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder with vasculopathy, characterized by proximal and symmetrical muscle weakness, evocative skin lesions, and systemic manifestations. Vasculopathy occurs in the skin, muscle (mainly in the perifascicular area), and sometimes in the intestinal tissue."},"zh":{"name":"幼年皮肌炎","synonyms":["幼儿DM"],"definition":"青少年皮肌炎（JDM）是皮肌炎（DM; 见该词条）的早期发病类型，是一种全身性、自身免疫性炎症性肌肉疾病，以近端肌无力、诱发性皮肤损害和全身表现为特征。"},"tr":{"name":"Juvenil dermatomiyozit","synonyms":["jüvenil DM"]}},"xrefs":[{"source":"ICD-10","code":"M33.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A41.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1428089375"},{"source":"MONDO","code":"0008054","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263666","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6805","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008521","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":329888,"name":"Juvenile idiopathic inflammatory myopathy","classifications":[181,196]},{"orpha":567558,"name":"Non-genetic systemic disease with glomerulopathy as a major feature","classifications":[188,233]},{"orpha":280373,"name":"Rare pediatric systemic disease","classifications":[231]},{"orpha":264704,"name":"Secondary interstitial lung disease specific to childhood associated with a connective tissue disease","classifications":[184,233]},{"orpha":290836,"name":"Systemic disease with skin involvement","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.295,"area":"Worldwide","status":"Validated","source":"12794783[PMID]_7551657[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003761","label":"Calcinosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100579","label":"Mucosal telangiectasiae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011710","label":"Bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}