{"orpha":178464,"name":"Hereditary myopathy with early respiratory failure","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Edström Myopathy","HIBM-ERF","HMERF","Hereditary inclusion body myopathy with early respiratory failure","MFM-titinopathy","Myofibrillar myopathy with early respiratory failure","Myofibrillar myopathy-titinopathy"],"definition":"A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178464/","orphanet_url":"https://www.orpha.net/en/disease/detail/178464","names":{"fr":{"name":"Myopathie héréditaire avec atteinte respiratoire précoce","synonyms":["Myopathie d'Edström","Myopathie myofibrillaire avec atteinte respiratoire précoce","Myopathie myofibrillaire-titinopathie","Myopathie à corps d'inclusion héréditaire avec atteinte respiratoire précoce","Myopathie à inclusions héréditaire avec atteinte respiratoire précoce","HIBM-ERF","HMERF","MMF-titinopathie"],"definition":"Maladie neuromusculaire génétique rare caractérisée par l'apparition, à l'âge adulte, d'une faiblesse musculaire distale et/ou proximale lentement progressive des membres supérieurs et inférieurs, ainsi que par l'atteinte précoce des muscles respiratoires à l'origine d'une insuffisance respiratoire. Parmi les autres signes figurent une faiblesse des muscles fléchisseurs du cou, une faiblesse des muscles extenseurs du pied et, dans de rares cas, un léger trouble de la fonction cardiaque. La biopsie musculaire met en évidence des inclusions éosinophiles dans les myofibrilles, dénommées corps cytoplasmiques, ainsi que des variations de taille des fibres, une augmentation du nombre de noyaux internes et une augmentation des tissus conjonctifs, une fragmentation fibreuse et des vacuoles bordées."},"de":{"name":"Hereditäre Myopathie mit frühem Atemversagen","synonyms":["Edström-Myopathie","HIBM-ERF","HMERF","Hereditäre Einschlusskörperchenmyopathie mit frühem Atemversagen","MFM-Titinopathie","Myofibrilläre Myopathie mit frühem Atemversagen","Myofibrilläre Myopathie-Titinopathie"],"definition":"Eine seltene genetisch bedingte neuromuskuläre Erkrankung, die sich im Erwachsenenalter durch eine langsam fortschreitende distale und/oder proximale Muskelschwäche der oberen und unteren Extremitäten und eine frühe Beteiligung der Atemmuskulatur auszeichnet, die zu Atemversagen führt. Weitere Merkmale sind Schwäche der Nackenbeuger und der Fußstrecker sowie in seltenen Fällen eine leicht eingeschränkte Herzfunktion. Die Muskelbiopsie zeigt eosinophile myofibrilläre Einschlüsse, die als Zytoplasmakörper bezeichnet werden, sowie eine Veränderung der Fasergröße, eine Vergrößerung der inneren Kerne und des Bindegewebes, eine Aufspaltung der Fasern und umrandete (\"rimmed\") Vakuolen."},"es":{"name":"Miopatía hereditaria con insuficiencia respiratoria temprana","synonyms":["HIBM-ERF","HMERF","MFM-titinopatía","Miopatía de Edström","Miopatía hereditaria con cuerpos de inclusión con insuficiencia respiratoria temprana","Miopatía miofibrilar con fallo respiratorio temprano","Miopatía miofibrilar con insuficiencia respiratoria temprana","Miopatía miofibrilar-titinopatía"],"definition":"Es una enfermedad neuromuscular de origen genético poco frecuente caracterizada por el inicio en la edad adulta de debilidad muscular proximal y/o distal lentamente progresiva en las extremidades superiores e inferiores, y una afectación temprana de los músculos respiratorios que resulta en insuficiencia respiratoria. Otros hallazgos adicionales son debilidad de los flexores del cuello y de los extensores del pie y, en casos poco frecuentes, una leve afectación de la función cardíaca. La biopsia muscular muestra inclusiones miofibrilares eosinofílicas denominadas cuerpos citoplasmáticos, así como variación del tamaño de las fibras, aumento de los núcleos internos y del tejido conjuntivo, división de las fibras y vacuolas ribeteadas."},"it":{"name":"Miopatia ereditaria con insufficienza respiratoria precoce","synonyms":["ADMERF","HIBM-ERF","Miopatia di Edström","Miopatia ereditaria da corpi inclusi con insufficienza respiratoria precoce","Miopatia miofibrillare con insufficienza respiratoria precoce"],"definition":"Si tratta di una malattia neuromuscolare genetica rara, che esordisce nell'età adulta con debolezza dei muscoli distali e/o prossimali degli arti superiori e inferiori a progressione lenta, e con un interessamento precoce dei muscoli respiratori, che esita nell'insufficienza respiratoria. Altri segni clinici sono la debolezza dei muscoli flessori del collo e degli estensori del piede e, in rari casi, la lieve compromissione della funzione cardiaca. La biopsia muscolare evidenzia inclusioni eosinofile miofibrillari definite corpi citoplasmatici, alterazioni delle dimensioni delle fibre, aumento dei nuclei interni e del tessuto connettivo, separazione delle fibre e vacuoli cerchiati."},"nl":{"name":"Erfelijke myopathie met vroeg respiratoir falen","synonyms":["ADMERF","Edström-myopathie","Erfelijke inclusielichaammyopathie met vroeg respiratoir falen","HIBM-ERF","HMERF","MFM-titinopathie","Myofibrillaire myopathie - titinopathie","Myofibrillaire myopathie met vroeg respiratoir falen"],"definition":"Een zeldzame, genetische neuromusculaire aandoening, gekarakteriseerd door aanvang in de volwassenheid van traag progressieve distale en/of proximale spierzwakte in bovenste en onderste ledematen, en vroege betrokkenheid van ademhalingsspieren, wat leidt tot respiratoir falen. Bijkomende kenmerken zijn zwakte van buigspieren van nek, zwakte van strekspieren van voet, en, in zeldzame gevallen, mild verstoorde hartfunctie. Spierbiopsie toont eosinofiele myofibrillaire inclusies genaamd cytoplasmatische lichaampjes, alsook variatie in omvang van vezels, verhoogd aantal interne nuclei en bindweefsel, splijting van vezels, en omrande vacuolen."},"pt":{"name":"Miopatia hereditária com insuficiência respiratória precoce"},"pl":{"name":"Dziedziczna miopatia z wczesną niewydolnością oddechową","synonyms":["ADMERF","Dziedziczna miopatia z ciałkami wtrętowymi z wczesną niewydolnością oddechową","HIBM-ERF","Miopatia Edströma","Miopatia miofibrylarna z wczesną niewydolnością oddechową"]},"cs":{"name":"Hereditární proximální myopatie s časným respiračním selháním","synonyms":["ADMERF","Edstromova myopatie","HIBM-ERF","HMERF","Hereditární myopatie s inkluzními tělísky s časným respiračním selháním","Myofibrilární myopatie s časným respiračním selháním"]},"uk":{"name":"Спадкова міопатія з ранньою дихальною недостатністю","synonyms":["Міопатія Едстрема","Спадкова інклюзивна міопатія тіла з ранньою дихальною недостатністю","HIBM-ERF","HMERF","MFM-титинопатія","Міофібрилярна міопатія з ранньою дихальною недостатністю","Міофібрилярна міопатія-титинопатія"],"definition":"A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles."},"zh":{"name":"遗传性肌病伴早期呼吸衰竭","synonyms":["遗传性包涵体肌病伴早期呼吸衰竭"],"definition":"遗传性肌病伴早期呼吸衰竭是一种罕见的遗传性神经肌肉疾病，常发生于成年，其主要临床表现为四肢远端和（或）近端缓慢进行性肌无力，早期累及呼吸肌导致呼吸衰竭。其他特征包括颈部屈肌无力、足部伸肌无力，极少数病例会出现轻度心功能不全。肌肉活检显示嗜酸性肌原纤维包涵体，称为胞质体，肌纤维大小改变，内核和结缔组织增多，出现纤维断裂和边缘空泡。"},"tr":{"name":"Erken solunum yetmezliği ile seyreden kalıtsal miyopati","synonyms":["HMERF","HIBM-ERF","MFM-titinopati","Edström miyopatisi","Miyofibriler miyopati-titinopati","Erken solunum yetmezliği ile seyreden miyofibriler miyopati","Erken solunum yetmezliği ile seyreden kalıtsal inklüzyon vücut miyopatisi"]}},"xrefs":[{"source":"OMIM","code":"603689","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"116175357"},{"source":"MONDO","code":"0011362","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566343","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863599","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12591","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":34521,"name":"Distal myopathy with early respiratory muscle involvement","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206662,"name":"Inclusion myopathy","classifications":[156,181]},{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]},{"orpha":209053,"name":"Qualitative or quantitative defects of titin","classifications":[156]}],"children":[],"genes":[{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24575448[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"10407851[PMID]_10053013[PMID]_2376753[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10407851[PMID]_10053013[PMID]_2376753[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-19","source":"22577215[PMID]_24575448[PMID]","terms":[{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031237","label":"Internally nucleated skeletal muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003555","label":"Muscle fiber splitting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008978","label":"Necrotizing myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012764","label":"Orthopnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002792","label":"Reduced vital capacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100293","label":"Muscle fiber hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008963","label":"Tibialis muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Very rare (<4-1%)","criteria":null}]}}