{"orpha":398117,"name":"Neonatal dermatomyositis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neonatal DM"],"definition":"A rare secondary neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398117/","orphanet_url":"https://www.orpha.net/en/disease/detail/398117","names":{"fr":{"name":"Dermatomyosite néonatale","synonyms":["DM néonatale"],"definition":"Maladie auto-immune néonatale secondaire rare caractérisée par une faiblesse généralisée, une hypotonie sévère, des réflexes tendineux profonds altérés ou absents et des taux sériques de créatine kinase très élevés, se manifestant pendant la période néonatale. La biopsie musculaire révèle une atrophie périfasciculaire en présence d'un exsudat diffus de cellules inflammatoires périvasculaires."},"de":{"name":"Dermatomyositis, neonatale","synonyms":["Neonatale DM"]},"es":{"name":"Dermatomiositis neonatal","synonyms":["DM neonatal"],"definition":"Es una enfermedad autoinmune neonatal secundaria muy poco frecuente caracterizada por una debilidad generalizada, con hipotonía grave, ausencia o reducción de los reflejos tendinosos profundos y unos niveles muy elevados de creatinquinasa sérica que está presente en el período neonatal. En la biopsia muscular se observa una atrofia perifascicular en la presencia de un exudado difuso de células inflamatorias perivasculares."},"it":{"name":"Dermatomiosite neonatale","synonyms":["DM neonatale"],"definition":"La dermatomiosite neonatale è una malattia autoimmune neonatale secondaria molto rara, caratterizzata da debolezza generalizzata, marcata ipotonia, riduzione o assenza dei riflessi tendinei profondi, e livelli molto elevati di creatin-chinasi nel siero, ad esordio neonatale. La biopsia muscolare evidenzia un'atrofia perivascolare ed un essudato diffuso perivascolare contenente cellule infiammatorie."},"nl":{"name":"Neonatale dermatomyositis","synonyms":["Neonatale DM"],"definition":"Neonatale dermatomyositis is een zeer zeldzame, secundaire, neonatale auto-immuunziekte die gekarakteriseerd wordt door gegeneraliseerde zwakte, ernstige hypotonie, afwezige of verminderde diepe peesreflexen, en sterk verhoogde gehaltes van creatinekinase in de neonatale periode. Perifasciculaire atrofie in aanwezigheid van een diffuus perivasculair inflammatoir celexsudaat wordt waargenomen bij spierbiopsie."},"pt":{"name":"Dermatomiosite neonatal"},"pl":{"name":"Zapalenie skórno-mięśniowe noworodków","synonyms":["DM noworodków"],"definition":"*Zapalenie skórno-mięśniowe noworodków jest bardzo rzadką, wtórną, noworodkową chorobą autoimmunologiczną, która charakteryzuje się uogólnionym osłabieniem, ciężką hipotonią, brakiem lub osłabieniem głębokich odruchów ścięgnistych oraz istotnie podwyższonym stężeniem kinazy kreatyninowej w surowicy krwi w okresie noworodkowym. W biopsji mięśnia obserwuje się zanik okołopęczkowy oraz rozlany okołonaczyniowy wysięk zapalny."},"cs":{"name":"Neonatální dermatomyozitida","synonyms":["Neonatální DM"]},"uk":{"name":"Неонатальний дерматоміозит","synonyms":["Неонатальний DM"],"definition":"A rare secondary neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy."},"zh":{"name":"新生儿皮肌炎","synonyms":["新生儿DM"],"definition":"新生儿皮肌炎是一种非常罕见的继发性新生儿自身免疫性疾病，其特征是全身无力，严重的肌张力低下，深反射缺失或减弱，新生儿期血清肌酸激酶水平高度升高。肌肉活检可观察到伴有弥漫性血管周围炎性细胞渗出物的束周萎缩。"},"tr":{"name":"Yenidoğan dermatomiyoziti","synonyms":["Yenidoğan DM"]}},"xrefs":[{"source":"ICD-10","code":"M33.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A41.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018359","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751516","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":398091,"name":"Secondary neonatal autoimmune disease","classifications":[196,231]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3508696[PMID]_8888050[PMID]_3508696[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3508696[PMID]_8888050[PMID]_3508696[PMID]"}],"phenotypes":null}