{"Name":"Childhood-onset autosomal recessive myopathy with external ophthalmoplegia","DiseaseID__c":"GARD:0017568","id":17568,"encodedName":"childhood-onset-autosomal-recessive-myopathy-with-external-ophthalmoplegia","IsDeleted":false,"Disease_Name_Full__c":"Childhood-onset autosomal recessive myopathy with external ophthalmoplegia","Xref_IDs__c":"787172004; C5192594; MEDGEN:1673410; MONDO:0018206; ORPHA:363677","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:363677","Disease_Description__c":"A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.","GARD_Name__c":"Childhood-onset autosomal recessive myopathy with external ophthalmoplegia","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:363677","Curated_Disease_Description__c":"A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:363677","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018206","ORPHANET_ID__c":"ORPHA:363677","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía autosómica recesiva de inicio en la infancia con oftalmoplejía externa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía autosómica recesiva de inicio en la infancia con oftalmoplejía externa","Spanish_GARD_Synonym__c":null,"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, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.","Curated_Disease_Description_Source__c":"ORPHA:363677","Name":"Childhood-onset autosomal recessive myopathy with external ophthalmoplegia","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic 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":"Childhood","Provided_By__c":"ORPHA:363677"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/363677","Source__c":"C5192594; MONDO:0018206; ORPHA:363677","Xref__c":"ORPHA:363677"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5192594","Source__c":"C5192594","Xref__c":"C5192594"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1673410","Source__c":"C5192594","Xref__c":"MEDGEN:1673410"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018206","Source__c":"GARD:0017568","Xref__c":"MONDO:0018206"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=787172004","Source__c":"C5192594","Xref__c":"787172004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYH2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neuromuscular medicine","Pediatrics"]},"synonyms":[""]}