{"orpha":79091,"name":"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HIBM3","Hereditary inclusion body myopathy type 3","IBM3","Inclusion body myopathy type 3"],"definition":"A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79091/","orphanet_url":"https://www.orpha.net/en/disease/detail/79091","names":{"fr":{"name":"Syndrome héréditaire de myopathie à corps d'inclusions-contractures articulaires-ophtalmoplégie","synonyms":["HIBM3","Myopathie à corps d'inclusion type 3","Myopathie à corps d'inclusions héréditaire type 3","Myopathie à inclusions héréditaire type 3","Myopathie à inclusions type 3","Syndrome de myopathie à inclusions héréditaire-contractures articulaires-ophtalmoplégie"],"definition":"Maladie neuromusculaire génétique rare caractérisée par l'apparition précoce d'une faiblesse musculaire généralisée ou proximale, d'une ophtalmoplégie externe avec ou sans ptosis, et de contractures articulaires. Une hypotonie, une détresse respiratoire néonatale nécessitant une assistance respiratoire et une dysphagie sévère ont également été rapportées. De sévérité variable, la maladie peut être non progressive ou à progression lente. Les patients préservent généralement l'autonomie de la marche. La biopsie musculaire peut mettre en évidence une prédominance de fibres de type 1, des fibres de taille très variable, une augmentation du nombre de noyaux internes et une prolifération des tissus conjonctifs du périmysium et de l'endomysium."},"de":{"name":"Hereditäre Einschlusskörperchenmyopathie-Gelenkkontrakturen-Ophthalmoplegie-Syndrom","synonyms":["Einschlusskörperchenmyopathie Typ 3","Einschlusskörperchenmyopathie, hereditäre, Typ 3","HIBM3","IBM3"],"definition":"Eine seltene neuromuskuläre Erkrankung, die durch eine früh einsetzende proximale oder generalisierte Muskelschwäche, externe Ophthalmoplegie mit oder ohne Ptose und Gelenkkontrakturen gekennzeichnet ist. Es wurde auch über Hypotonie, neonatale Atemnot, die eine Beatmung erforderlich macht, und schwere Dysphagie berichtet. Die Krankheit hat einen unterschiedlichen Schweregrad und schreitet nicht oder nur langsam voran. Die Patienten bleiben in der Regel gehfähig. Die Muskelbiopsie kann ein Überwiegen von Fasern des Typs 1, eine ausgeprägte Variabilität der Fasergröße, vergrößerte innere Kerne und eine Vermehrung des perimysialen und endomysialen Bindegewebes zeigen."},"es":{"name":"Síndrome de miopatía hereditaria de cuerpos de inclusión-contracturas de las articulaciones-oftalmoplejía","synonyms":["HIBM3","IBM3","Miopatía con cuerpos de inclusión tipo 3","Miopatía hereditaria con cuerpos de inclusión tipo 3"],"definition":"Es una enfermedad neuromuscular de origen genético poco frecuente caracterizada por el inicio precoz de debilidad muscular proximal o generalizada, oftalmoplejía externa con o sin ptosis y contracturas articulares. También se ha descrito hipotonía, distrés respiratorio neonatal que requiere ventilación artificial y disfagia grave. La enfermedad presenta una gravedad variable, siendo no progresiva o lentamente progresiva. Por lo general, los pacientes conservan la capacidad de deambular. La biopsia muscular puede mostrar un predominio de las fibras tipo 1, elevada variabilidad en el tamaño de las fibras, aumento de los núcleos internos y proliferación de tejido conectivo perimisial y endomisial."},"it":{"name":"Miopatia ereditaria da corpi inclusi-contratture articolari-oftalmoplegia","synonyms":["HIBM3","IBM3","Miopatia da corpi inclusi, tipo 3","Miopatia ereditaria da corpi inclusi, tipo 3"],"definition":"Si tratta di una malattia neuromuscolare genetica rara, caratterizzata da debolezza muscolare prossimale o generalizzata ad esordio precoce, oftalmoplegia esterna con o senza ptosi, e contratture articolari. I pazienti possono presentare anche ipotonia, distress respiratorio neonatale che rende necessaria la ventilazione, e disfagia grave. La malattia ha una gravità variabile; non è progressiva oppure progredisce lentamente. Di solito la deambulazione è preservata. La biopsia muscolare evidenzia la predominanza di fibre di tipo 1, una marcata variabilità nelle dimensioni delle fibre, l'aumento dei nuclei interni e la proliferazione del tessuto connettivo perimisiale ed endomisiale."},"nl":{"name":"Erfelijke inclusielichaammyopathie - gewrichtscontracturen - oftalmoplegie-syndroom","synonyms":["Erfelijke inclusielichaammyopathie type 3","HIBM3","IBM3","Inclusielichaammyopathie type 3"],"definition":"Een zeldzame, genetische neuromusculaire aandoening, gekarakteriseerd door vroege aanvang van proximale of gegeneraliseerde spierzwakte, externe oftalmoplegie met of zonder ptosis, en gewrichtscontracturen. Hypotonie, neonatale ademnood met nood aan beademing, en ernstige dysfagie werden ook reeds gerapporteerd. De ziekte toont variabele gradaties van ernst en is niet of traag progressief. Patiënten blijven doorgaans in staat te lopen. Spierbiopsie toont mogelijk overwicht van type 1 vezels, opmerkelijke variabiliteit van vezelgrootte, verhoogd aantal interne nuclei, en proliferatie van perimysiaal en endomysiaal bindweefsel."},"pt":{"name":"Síndrome de miopatia hereditária com corpos de inclusão-contraturas articulares-oftalmoplegia","synonyms":["HIBM3","IBM3","Miopatia com corpos de inclusão tipo 3","Miopatia hereditária com corpos de inclusão tipo 3"]},"pl":{"name":"Dziedziczna miopatia z ciałkami wtrętowymi - przykurcze stawów - oftalmoplegia","synonyms":["Dziedziczna miopatia z ciałkami wtrętowymi typu 3","HIBM3","IBM3","Miopatia z ciałkami wtrętowymi typu 3"]},"cs":{"name":"Syndrom zahrnující hereditární myopatii s inkluzními tělísky, kloubní kontraktury a oftalmoplegii","synonyms":["HIBM3","IBM3","Hereditární myopatie s inkluzními tělísky, typ 3","Myopatie s inkluzními tělísky, typ 3"]},"uk":{"name":"Синдром спадкової міопатії з тільцями-включеннями - контрактур суглобів-офтальмоплегії","synonyms":["Спадкова міопатія з тільцями включення типу 3","HIBM3","IBM3","Міопатія з тільцями включення 3 типу"],"definition":"A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue."},"zh":{"name":"遗传性包涵体肌病-关节挛缩-眼肌麻痹综合征","synonyms":["遗传性包涵体肌病3型"]},"tr":{"name":"Kalıtsal inklüzyon cismi miyopatisi-eklem kontraktürleri-oftalmopleji sendromu","synonyms":["IBM3","HIBM3","İnklüzyon vücut miyopatisi tip 3","Kalıtsal inklüzyon vücut miyopatisi tip 3"]}},"xrefs":[{"source":"OMIM","code":"605637","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A41.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"160295890"},{"source":"MONDO","code":"0019195","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510610","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9494","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206662,"name":"Inclusion myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MYH2","name":"myosin heavy chain 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11114175[PMID]","hgnc":"7572","ensembl":"ENSG00000125414","omim":"160740","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"9708547[PMID]_23489661[PMID]_25529940[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9708547[PMID]_23489661[PMID]_25529940[PMID]"}],"phenotypes":null}