{"Name":"Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome","DiseaseID__c":"GARD:0021942","id":21942,"encodedName":"childhood-onset-progressive-contractures-limb-girdle-weakness-muscle-dystrophy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome","Xref_IDs__c":"C5568863; MEDGEN:1800286; MONDO:0018759; ORPHA:466921","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:466921","Disease_Description__c":"A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.","GARD_Name__c":"Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome","GARD_Synonym__c":"childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome","Curated_Disease_Description_Source__c":"ORPHA:466921","Curated_Disease_Description__c":"A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:466921","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018759","ORPHANET_ID__c":"ORPHA:466921","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de contracturas progresivas-debilidad de cinturas-distrofia muscular de inicio en la infancia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de contracturas progresivas-debilidad de cinturas-distrofia muscular de inicio en la infancia","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 progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.","Curated_Disease_Description_Source__c":"ORPHA:466921","GARD_Synonym__c":"childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome","Name":"Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy s","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"}],"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":"Muscular Dystrophy","Tag_Category__c":"Account;Disease Category","category_description":"Muscular dystrophy refers to a group of inherited disorders that cause muscles to gradually weaken and break down.","curated_tag_name":"Muscular dystrophy"},{"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:466921"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1800286","Source__c":"C5568863","Xref__c":"MEDGEN:1800286"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568863","Source__c":"C5568863","Xref__c":"C5568863"},{"URL__c":"https://www.orpha.net/en/disease/detail/466921","Source__c":"C5568863; MONDO:0018759; ORPHA:466921","Xref__c":"ORPHA:466921"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018759","Source__c":"GARD:0021942","Xref__c":"MONDO:0018759"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187251009","Source__c":"C5568863","Xref__c":"1187251009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TTN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ttn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome"]}