{"Name":"Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome","DiseaseID__c":"GARD:0017912","id":17912,"encodedName":"kyphosis-lateral-tongue-atrophy-myofibrillar-myopathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome","Xref_IDs__c":"C5567453; MEDGEN:1798876; MONDO:0044647; ORPHA:496686","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":"ORPHA:496686","Disease_Description__c":"A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.","GARD_Name__c":"Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome","GARD_Synonym__c":"kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome","Curated_Disease_Description_Source__c":"ORPHA:496686","Curated_Disease_Description__c":"A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:496686","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044647","ORPHANET_ID__c":"ORPHA:496686","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cifosis-atrofia lateral de la lengua-miopatía miofibrilar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de cifosis-atrofia lateral de la lengua-miopatía miofibrilar","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 skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.","Curated_Disease_Description_Source__c":"ORPHA:496686","GARD_Synonym__c":"kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome","Name":"Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:496686"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:496686"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:496686"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/496686","Source__c":"C5567453; MONDO:0044647; ORPHA:496686","Xref__c":"ORPHA:496686"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798876","Source__c":"C5567453","Xref__c":"MEDGEN:1798876"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567453","Source__c":"C5567453","Xref__c":"C5567453"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172591008","Source__c":"C5567453","Xref__c":"1172591008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044647","Source__c":"GARD:0017912","Xref__c":"MONDO:0044647"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KY","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome"]}