{"Name":"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome","DiseaseID__c":"GARD:0009494","id":9494,"encodedName":"hereditary-inclusion-body-myopathy-joint-contractures-ophthalmoplegia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome","Xref_IDs__c":"724349009; C4510610; MEDGEN:1382737; MONDO:0019195; ORPHA:79091","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0019195","Disease_Description__c":"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.","GARD_Name__c":"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome","GARD_Synonym__c":"hereditary inclusion body myopathy type 3; hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome; hibm3; ibm3; inclusion body myopathy type 3","Curated_Disease_Description_Source__c":"MONDO:0019195","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:79091","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019195","ORPHANET_ID__c":"ORPHA:79091","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de miopatía hereditaria de cuerpos de inclusión-contracturas de las articulaciones-oftalmoplejía","Spanish_Description_Source__c":"ORPHA:79091","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"síndrome de miopatía hereditaria de cuerpos de inclusión-contracturas de las articulaciones-oftalmoplejía","Spanish_GARD_Synonym__c":"hibm3; ibm3; miopatía con cuerpos de inclusión tipo 3; miopatía hereditaria con cuerpos de inclusión tipo 3","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":"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.","Curated_Disease_Description_Source__c":"MONDO:0019195","GARD_Synonym__c":"hereditary inclusion body myopathy type 3; hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome; hibm3; ibm3; inclusion body myopathy type 3","Name":"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79091"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:79091"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79091"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009494","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/79091","Source__c":"C4510610; MONDO:0019195; ORPHA:79091","Xref__c":"ORPHA:79091"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4510610","Source__c":"C4510610","Xref__c":"C4510610"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724349009","Source__c":"C4510610; MONDO:0019195","Xref__c":"724349009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1382737","Source__c":"C4510610","Xref__c":"MEDGEN:1382737"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019195","Source__c":"GARD:0009494","Xref__c":"MONDO:0019195"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYH2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["hereditary inclusion body myopathy type 3"," hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome"," hibm3"," ibm3"," inclusion body myopathy type 3"]}