{"Name":"Hereditary inclusion body myopathy type 4","DiseaseID__c":"GARD:0021440","id":21440,"encodedName":"hereditary-inclusion-body-myopathy-type-4","IsDeleted":false,"Disease_Name_Full__c":"Hereditary inclusion body myopathy type 4","Xref_IDs__c":"770786001; C4749501; MEDGEN:1669421; MONDO:0017931; ORPHA:324381","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":1,"Description_Source__c":"MONDO:0017931","Disease_Description__c":"Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.","GARD_Name__c":"Hereditary inclusion body myopathy type 4","GARD_Synonym__c":"hibm4","Curated_Disease_Description_Source__c":"MONDO:0017931","Curated_Disease_Description__c":"Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:324381","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017931","ORPHANET_ID__c":"ORPHA:324381","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía hereditaria por cuerpos de inclusión tipo 4","Spanish_Description_Source__c":"ORPHA:324381","Spanish_Description__c":"La miopatía hereditaria por cuerpos de inclusión tipo 4, es una miopatía no distrófica poco frecuente caracterizada por debilidad muscular de progresión lenta y atrofia que afecta inicialmente a las extremidades inferiores proximales y a la cintura pélvica, y más adelante a la cintura escapular, las extremidades superiores proximales y los músculos axiales. Por lo general, la deambulación está conservada. En la biopsia muscular se observan, por microscopia electrónica, depósitos congofílicos con inclusiones citoplásmicas de filamentos de 15-21 nm.","Spanish_Disease_Name__c":"miopatía hereditaria por cuerpos de inclusión tipo 4","Spanish_GARD_Synonym__c":"hibm4","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":"Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.","Curated_Disease_Description_Source__c":"MONDO:0017931","GARD_Synonym__c":"hibm4","Name":"Hereditary inclusion body myopathy type 4","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:324381"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1669421","Source__c":"C4749501","Xref__c":"MEDGEN:1669421"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749501","Source__c":"C4749501","Xref__c":"C4749501"},{"URL__c":"https://www.orpha.net/en/disease/detail/324381","Source__c":"C4749501; MONDO:0017931; ORPHA:324381","Xref__c":"ORPHA:324381"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770786001","Source__c":"C4749501","Xref__c":"770786001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017931","Source__c":"GARD:0021440","Xref__c":"MONDO:0017931"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["hibm4"]}