{"orpha":98904,"name":"Congenital myopathy with excess of thin filaments","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Actin myopathy"],"definition":"A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98904/","orphanet_url":"https://www.orpha.net/en/disease/detail/98904","names":{"fr":{"name":"Myopathie congénitale avec excès de filaments fins","synonyms":["Myopathie avec surcharge en actine"],"definition":"Myopathie congénitale rare, d'origine génétique, caractérisée par une faiblesse musculaire de degré variable, fréquemment associée à une maladie à type de myopathie à némaline sévère (hypotonie néonatale, absence de mouvements spontanés, difficultés à s'alimenter et à déglutir, infections respiratoires fréquentes, insuffisance respiratoire, décès précoce). L'examen histopathologique d'une biopsie musculaire met en évidence d'importantes accumulations denses de filaments fins immunoréactifs pour l'actine sous le sarcolemme (avec ou sans bâtonnets intranucléaires)."},"de":{"name":"Myopathie, kongenitale, mit Exzess dünner Filamente","synonyms":["Aktin-Myopathie"],"definition":"Eine seltene, genetisch bedingte, kongenitale Myopathie, die durch einen unterschiedlichen Grad an Muskelschwäche gekennzeichnet ist. Sie geht häufig einher mit Merkmalen, die einer schweren Form der Nemalin-Myopathie ähneln (einschließlich neonataler Hypotonie, fehlender Spontanbewegungen, Schwierigkeiten beim Füttern und Schlucken, häufigen Atemwegsinfektionen, respiratorischer Insuffizienz und frühem Tod). Der histopathologischen Befund der Muskelbiopsie zeigt große, dicht gepackte, subsarkolemmale Ansammlungen dünner, aktin-immunopositiver Filamente (mit oder ohne intranukleäre Nemalinkörper)."},"es":{"name":"Miopatía congénita con exceso de filamentos delgados","synonyms":["Miopatía de actina"],"definition":"Es una miopatía congénita, de origen genético y muy poco frecuente, caracterizada por diferentes grados de debilidad muscular, que remedia una miopatía nemalínica grave (que incluye hipotonía neonatal, ausencia de movimientos espontáneos, dificultades en la alimentación y la deglución, infecciones respiratorias frecuentes, insuficiencia respiratoria, muerte prematura) con unos hallazgos histopatológicos consistentes en grandes acúmulos subsarcolemales, densamente empaquetados de filamentos delgados inmunopositivos para actina (con o sin bastones nemalínicos intranucleares) en la biopsia muscular."},"it":{"name":"Miopatia congenita con eccesso di filamenti sottili","synonyms":["Miopatia da actina"],"definition":"Si tratta di una miopatia congenita genetica rara, caratterizzata da debolezza muscolare di grado variabile, spesso associata a una malattia simil-miopatia nemalinica grave (caratterizzata da ipotonia neonatale, assenza dei movimenti spontanei, difficoltà di alimentazione e deglutizione, infezioni respiratorie frequenti, insufficienza respiratoria, morte prematura). Dal punto di vista istopatologico, la biopsia muscolare evidenzia ampi accumuli subsarcolemmali densamente raggruppati di filamenti sottili immunopositivi all'actina (con o senza bastoncelli nemalinici intranucleari)."},"nl":{"name":"Congenitale myopathie met overmaat aan dunne filamenten","synonyms":["Actine myopathie"],"definition":"Een zeldzame, genetische, congenitale myopathie gekarakteriseerd door variabele gradaties van spierzwakte, frequent geassocieerd met ernstige nemaline myopathie-achtige ziekte (inclusief neonatale hypotonie, gebrek aan spontane bewegingen, voedings- en slikproblemen, frequente respiratoire infecties, respiratoire insufficiëntie, vroeg overlijden), en histopathologische bevindingen van grote, dicht opeengepakte, subsarcolemmale accumulaties van dunne, actine-immuunpositieve filamenten (met of zonder intranucleaire nemalinestaafjes) in spierbiopten."},"pt":{"name":"Miopatia congénita com excesso de filamentos finos"},"pl":{"name":"Wrodzona miopatia z nadmiarem cienkich filamentów","synonyms":["Miopatia aktynowa"]},"cs":{"name":"Vrozená myopatie s nadbytkem tenkých filament","synonyms":["Aktinová myopatie"]},"uk":{"name":"Вроджена міопатія з надлишком тонких волокон","synonyms":["Актинова міопатія"],"definition":"A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy."},"zh":{"name":"先天性肌病伴过量肌动蛋白","synonyms":["肌动蛋白肌病"],"definition":"该病是一种罕见的遗传性先天性肌病，以不同程度的肌肉无力为特征，常与严重的杆状体肌病样疾病有关(包括新生儿肌张力低下、缺乏自主运动、进食和吞咽困难、反复呼吸道感染、呼吸功能不全、夭折)，以及肌肉活检上发现大量、密集包裹的肌膜下肌动蛋白免疫阳性的细丝(有或没有杆状体)的组织病理学结果。"},"tr":{"name":"Aşırı ince filamentler ile seyreden doğumsal miyopati","synonyms":["Aktin miyopati"]}},"xrefs":[{"source":"OMIM","code":"161800","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620265","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1311513523"},{"source":"MONDO","code":"8070","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3711389","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]},{"orpha":209059,"name":"Qualitative or quantitative defects of alpha-actin","classifications":[156]}],"children":[],"genes":[{"symbol":"ACTA1","name":"actin alpha 1, skeletal muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10508519[PMID]","hgnc":"129","ensembl":"ENSG00000143632","omim":"102610","loci":["1q42.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}