{"Name":"Inclusion body myositis","DiseaseID__c":"GARD:0003896","id":3896,"encodedName":"inclusion-body-myositis","IsDeleted":false,"Disease_Name_Full__c":"Inclusion body myositis","Xref_IDs__c":"72315009; C0238190; C84786; D018979; DOID:3429; G72.41; MEDGEN:68659; MONDO:0007827; OMIM:147421; ORPHA:611","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007827","Disease_Description__c":"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.","GARD_Name__c":"Inclusion body myositis","GARD_Synonym__c":"ibm; ibm - inclusion body myositis; sibm; sporadic inclusion body myositis","Curated_Disease_Description_Source__c":"GARD:0003896","Curated_Disease_Description__c":"Inclusion body myositis (IBM) is a progressive muscle disorder characterized by muscle inflammation, weakness, and atrophy (wasting). It is a type of inflammatory myopathy. The most common symptoms include progressive weakness of the legs, arms, fingers, and wrists. Some people also have weakness of the facial muscles (especially muscles controlling eye closure), or difficulty swallowing (dysphagia). Muscle cramping and pain are uncommon, but have been reported in some people. The underlying cause of IBM is poorly understood and likely involves the interaction of genetic, immune-related, and environmental factors. Some people may have a genetic predisposition to developing IBM, but the condition itself typically is not inherited.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:611","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007827","ORPHANET_ID__c":"ORPHA:611","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miositis por cuerpos de inclusión","Spanish_Description_Source__c":"ORPHA:611","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"miositis por cuerpos de inclusión","Spanish_GARD_Synonym__c":"ibm; miositis por cuerpos de inclusión esporádica; sibm","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Inclusion body myositis (IBM) is a progressive muscle disorder characterized by muscle inflammation, weakness, and atrophy (wasting). It is a type of inflammatory myopathy. The most common symptoms include progressive weakness of the legs, arms, fingers, and wrists. Some people also have weakness of the facial muscles (especially muscles controlling eye closure), or difficulty swallowing (dysphagia). Muscle cramping and pain are uncommon, but have been reported in some people. The underlying cause of IBM is poorly understood and likely involves the interaction of genetic, immune-related, and environmental factors. Some people may have a genetic predisposition to developing IBM, but the condition itself typically is not inherited.","Curated_Disease_Description_Source__c":"GARD:0003896","GARD_Synonym__c":"ibm; ibm - inclusion body myositis; sibm; sporadic inclusion body myositis","Name":"Inclusion body myositis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Muscular Dystrophy Foundation Australia","Website__c":"https://mdaustralia.org.au/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"The Myositis Association","Website__c":"https://www.myositis.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Myositis Support and Understanding","Website__c":"https://understandingmyositis.org/"},{"Account_Name__c":"Myositis UK","Website__c":"https://www.myositis.org.uk/"},{"Account_Name__c":"Cure IBM","Website__c":"https://cureibm.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:611"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:611"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0238190"}],"External_Identifier_Disease__c":[{"URL__c":"https://ui.transltr.io/demo/disease/MONDO:0007827","Source__c":"Biomedical Data Translator","Xref__c":"7827"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018979","Source__c":"C0238190; MONDO:0007827","Xref__c":"D018979"},{"URL__c":"https://www.omim.org/entry/147421","Source__c":"C0238190; MONDO:0007827; ORPHA:611","Xref__c":"OMIM:147421"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=72315009","Source__c":"C0238190; MONDO:0007827","Xref__c":"72315009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0238190","Source__c":"C0238190","Xref__c":"C0238190"},{"URL__c":"https://www.orpha.net/en/disease/detail/611","Source__c":"C0238190; MONDO:0007827; ORPHA:611","Xref__c":"ORPHA:611"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84786","Source__c":"C0238190; MONDO:0007827","Xref__c":"C84786"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=68659","Source__c":"C0238190","Xref__c":"MEDGEN:68659"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3429","Source__c":"MONDO:0007827","Xref__c":"DOID:3429"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007827","Source__c":"GARD:0003896","Xref__c":"MONDO:0007827"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G72.41","Source__c":"MONDO:0007827","Xref__c":"G72.41"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/inclusion-body-myositis"},{"URL__c":"https://www.myositis.org/fda-listening-session/"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Chronic muscle inflammation accompanied by muscle weakness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009071","HPO_Name__c":"Inflammatory myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003805","HPO_Synonym__c":"Rimmed vacuoles on biopsy","HPO_Name__c":"Rimmed vacuoles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003731","HPO_Synonym__c":"Quadriceps weakness","HPO_Name__c":"Quadriceps muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003200","HPO_Synonym__c":"Mitochondrial proliferation in muscle tissue; Ragged red muscle fibers; Ragged-red fibers","HPO_Name__c":"Ragged-red muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004303","HPO_Synonym__c":"Abnormal skeletal muscle fiber morphology; Abnormality of muscle fibers","HPO_Name__c":"Abnormal muscle fiber morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034153","HPO_Synonym__c":"Anti-cN1A antibody positivity","HPO_Name__c":"Anti-cytosolic-5-nucleotidase-1A antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:611","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Rheumatology","Neuromuscular medicine"]},"synonyms":["ibm"," ibm - inclusion body myositis"," sibm"," sporadic inclusion body myositis"]}