{"orpha":611,"name":"Inclusion body myositis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IBM","Sporadic inclusion body myositis","sIBM"],"definition":"A rare degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness, starting in either the quadriceps or finger flexors and slowly progressing to include other groups of limb muscles. Distinctive histopathological features include inflammatory and degenerative features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-611/","orphanet_url":"https://www.orpha.net/en/disease/detail/611","names":{"fr":{"name":"Myosite à inclusions","synonyms":["IBM","Myosite à inclusions sporadique","sIBM"],"definition":"Maladie inflammatoire dégénérative rare des muscles squelettiques caractérisée par une faiblesse d'apparition tardive, qui commence soit par une atteinte des quadriceps soit des fléchisseurs des doigts et progressant lentement et affectant d'autres groupes musculaires des membres. Les signes histopathologiques distinctifs sont des phénomènes inflammatoires et dégénératifs."},"de":{"name":"Einschlusskörper-Myositis","synonyms":["Einschlusskörper-Myositis, sporadische","IBM","sIBM"],"definition":"Eine seltene degenerative entzündliche Erkrankung der Skelettmuskulatur, die durch eine spät einsetzende Schwäche gekennzeichnet ist, die entweder im Quadrizeps oder in den Fingerbeugern beginnt und sich langsam auf andere Muskelgruppen der Gliedmaßen ausweitet. Zu den charakteristischen histopathologischen Merkmalen gehören entzündliche und degenerative Merkmale."},"es":{"name":"Miositis por cuerpos de inclusión","synonyms":["IBM","Miositis por cuerpos de inclusión esporádica","sIBM"],"definition":"Es un trastorno inflamatorio degenerativo poco frecuente de los músculos esqueléticos caracterizado por debilidad de inicio tardío, que comienza en los cuádriceps o en los flexores de los dedos de la mano, extendiéndose lentamente a otros grupos musculares de las extremidades. Los hallazgos histopatológicos distintivos incluyen tanto características inflamatorias como degenerativas."},"it":{"name":"Miosite da corpi di inclusione","synonyms":["IBM","Miosite sporadica da corpi di inclusione","sIBM"],"definition":"La miosite da corpi di inclusione (IBM) è una malattia infiammatoria degenerativa rara della muscolatura scheletrica, caratterizzata da debolezza ad esordio tardivo, che interessa dapprima i quadricipiti o i flessori delle dita, per poi progredire lentamente interessando altri gruppi di muscoli degli arti. L'esame istopatologico evidenzia infiammazione e degenerazione."},"nl":{"name":"Inclusielichaammyositis","synonyms":["IBM","Inclusion body myositis","Sporadische inclusielichaammyositis","Sporadische inclusion body myositis","sIBM"],"definition":"Een zeldzame degeneratieve inflammatoire aandoening van skeletspier, gekenmerkt door laat optredende zwakte, die aanvangt in quadriceps of buigspieren van vingers, en traag evolueert naar aantasting van andere spiergroepen van ledematen. Typische histopathologische kenmerken zijn onder meer inflammatoire en degeneratieve kenmerken."},"pt":{"name":"Miosite de corpos de inclusão"},"pl":{"name":"Wtrętowe zapalenie mięśni","synonyms":["IBM","sIBM","Sporadyczne wtrętowe zapalenie mięśni"]},"cs":{"name":"Myozitida s inkluzními tělísky","synonyms":["IBM","sIBM","Sporadická myozitida s inkluzními tělísky"]},"uk":{"name":"Міозит зі включеними тільцями","synonyms":["IBM","sIBM","Спорадичний інфільтративний міозит тіла"],"definition":"A rare degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness, starting in either the quadriceps or finger flexors and slowly progressing to include other groups of limb muscles. Distinctive histopathological features include inflammatory and degenerative features."},"zh":{"name":"包涵体肌炎","synonyms":["散发性包涵体肌炎"]},"tr":{"name":"İnklüzyon cisimcik miyoziti","synonyms":["IBM","sIBM","Sporadik inklüzyon cisimcikli miyoziti"]}},"xrefs":[{"source":"OMIM","code":"147421","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A41.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1091975965"},{"source":"MONDO","code":"0007827","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018979","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238190","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3896","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066407","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98482,"name":"Idiopathic inflammatory myopathy","classifications":[181,196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"European Medicines Agency 2012[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":2.5,"area":"Sweden","status":"Validated","source":"35596584[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.49,"area":"Netherlands","status":"Validated","source":"11087787[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Australia","status":"Not yet validated","source":"10842277[PMID]_18815046[PMID]_ ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"United States","status":"Validated","source":"11552086[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Turkey","status":"Validated","source":"21842592[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Sweden","status":"Validated","source":"35596584[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004303","label":"Abnormal muscle fiber morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009071","label":"Inflammatory myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034153","label":"Anti-cytosolic-5-nucleotidase-1A antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null}]}}