{"Name":"Myopathy with hexagonally cross-linked tubular arrays","DiseaseID__c":"GARD:0020129","id":20129,"encodedName":"myopathy-with-hexagonally-cross-linked-tubular-arrays","IsDeleted":false,"Disease_Name_Full__c":"Myopathy with hexagonally cross-linked tubular arrays","Xref_IDs__c":"764994007; C4707259; MEDGEN:1636081; MONDO:0015755; ORPHA:171889","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015755","Disease_Description__c":"Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.","GARD_Name__c":"Myopathy with hexagonally cross-linked tubular arrays","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0015755","Curated_Disease_Description__c":"Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:171889","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015755","ORPHANET_ID__c":"ORPHA:171889","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía con estructura tubular hexagonal","Spanish_Description_Source__c":"ORPHA:171889","Spanish_Description__c":"La miopatía con estructura tubular hexagonal es una miopatía proximal poco frecuente, congénita, no distrófica, leve y de progresión lenta, caracterizada por intolerancia al ejercicio y mialgia post-ejercicio sin rabdomiolisis, asociada con estructuras tubulares hexagonales y altamente organizadas en biopsias de músculo esquelético. Las características adicionales pueden incluir atrofia muscular (o hipotrofia difusa), mialgia con o sin debilidad muscular, paresia de la musculatura troncal y de la cintura escapular, ptosis mínima, hiperlordosis lumbar, reflejos tendinosos disminuidos, contracturas y pie equinovaro.","Spanish_Disease_Name__c":"miopatía con estructura tubular hexagonal","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":"Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.","Curated_Disease_Description_Source__c":"MONDO:0015755","Name":"Myopathy with hexagonally cross-linked tubular arrays","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/171889","Source__c":"C4707259; MONDO:0015755; ORPHA:171889","Xref__c":"ORPHA:171889"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764994007","Source__c":"C4707259; MONDO:0015755","Xref__c":"764994007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707259","Source__c":"C4707259","Xref__c":"C4707259"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1636081","Source__c":"C4707259","Xref__c":"MEDGEN:1636081"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015755","Source__c":"GARD:0020129","Xref__c":"MONDO:0015755"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":[""]}