{"orpha":439212,"name":"Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EMARDD"],"definition":"A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-439212/","orphanet_url":"https://www.orpha.net/en/disease/detail/439212","names":{"fr":{"name":"Syndrome de myopathie à début précoce-aréflexie-détresse respiratoire-dysphagie","synonyms":["EMARDD"],"definition":"Myopathie congénitale rare caractérisée par l'apparition précoce d'une faiblesse musculaire sévère, d'une détresse respiratoire due à une paralysie diaphragmatique, d'une dysphagie et d'une aréflexie, de contractures articulaires et d'une scoliose. Une diminution des mouvements foetaux est parfois observée. La biopsie musculaire peut mettre en évidence l'association de signes de myopathie et de dystrophie. L'évolution clinique varie, certains patients devenant dépendants d'une assistance respiratoire et n'acquérant jamais la marche."},"de":{"name":"Früh-beginnende Myopathie-Areflexie-Atemnot-Dysphagie-Syndrom","synonyms":["EMARDD"],"definition":"Eine seltene kongenitale Myopathie, die durch früh einsetzende schwere Muskelschwäche, Atemnot aufgrund von Zwerchfelllähmung, Schluckstörungen und Areflexie, Gelenkkontrakturen und Skoliose gekennzeichnet ist. In einigen Fällen wurde eine verminderte fetale Bewegungen beobachtet. Eine Muskelbiopsie kann eine Kombination aus dystrophischen und myopathischen Merkmalen zeigen. Der klinische Verlauf ist unterschiedlich, wobei einige Patienten auf ein Beatmungsgerät angewiesen sind und nie wieder gehen können."},"es":{"name":"Síndrome de miopatía de inicio precoz-arreflexia-dificultad respiratoria-disfagia","synonyms":["EMARDD"],"definition":"Es una miopatía congénita poco frecuente caracterizada por el inicio temprano de una grave debilidad muscular, distrés respiratorio debido a parálisis diafragmática, disfagia y arreflexia, contracturas articulares y escoliosis. En algunos casos se observa una disminución de los movimientos fetales. La biopsia muscular puede mostrar una combinación de hallazgos distróficos y miopáticos. El curso clínico es variable, y algunos pacientes requieren ventilación mecánica y nunca logran la deambulación."},"it":{"name":"Sindrome miopatia a esordio precoce-areflessia-distress respiratorio-disfagia","synonyms":["EMARDD"],"definition":"Si tratta di una miopatia congenita rara, caratterizzata grave debolezza muscolare ad esordio precoce, distress respiratorio secondario alla paralisi del diaframma, disfagia, areflessia, contratture articolari e scoliosi. Può associarsi ad una riduzione dei movimenti fetali. La biopsia muscolare evidenzia caratteristiche distrofiche e miopatiche. Il decorso clinico è variabile; alcuni pazienti necessitano di un supporto ventilatorio continuo e non acquisiscono la capacità di deambulare."},"nl":{"name":"Vroeg beginnende myopathie - areflexie - ademhalingsnood - dysfagie-syndroom","synonyms":["EMARDD"],"definition":"Een zeldzame congenitale myopathie, gekarakteriseerd door vroege aanvang van ernstige spierzwakte, ademnood door verlamming van het diafragma, dysfagie en areflexie, gewrichtscontracturen, en scoliose. Bij sommige individuen wordt een vermindering van de foetale bewegingen waargenomen. Spierbiopsie toont mogelijk een combinatie van dystrofische en myopathische kenmerken. Het klinische verloop is variabel, en sommige patiënten worden afhankelijk van kunstmatige beademing en verkrijgen nooit zelfstandig loopvermogen."},"pt":{"name":"Síndrome de miopatia-arreflexia-dificuldade respiratória-disfagia de início precoce"},"pl":{"name":"Zespół miopatii, arefleksji, zaburzeń oddychania i dysfagii o wczesnym początku","synonyms":["EMARDD"]},"cs":{"name":"Syndrom zahrnující myopatii s časným nástupem, areflexii, respirační obtíže a dysfagii","synonyms":["EMARDD"]},"uk":{"name":"Синдром міопатії-рефлексії-респіраторного дистресу-дисфагії з раннім початком","synonyms":["EMARDD"],"definition":"A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation."},"zh":{"name":"早发性肌病-反射消失-呼吸窘迫-吞咽困难综合征","synonyms":["EMARDD"]},"tr":{"name":"Erken başlangıçlı miyopati-arefleksi-solunum sıkıntısı-disfaji sendromu","synonyms":["EMARDD"]}},"xrefs":[{"source":"OMIM","code":"614399","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013731","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280679","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12199","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MEGF10","name":"multiple EGF like domains 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22101682[PMID]_23453856[PMID]","hgnc":"29634","ensembl":"ENSG00000145794","omim":"612453","loci":["5q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"29128256[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29128256[PMID]"}],"phenotypes":null}