{"Name":"Congenital muscular dystrophy","DiseaseID__c":"GARD:0009138","id":9138,"encodedName":"congenital-muscular-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Congenital muscular dystrophy","Xref_IDs__c":"240059009; C0699743; DOID:0050557; MEDGEN:147063; MONDO:0019950; ORPHA:97242","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019950","Disease_Description__c":"A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.","GARD_Name__c":"Congenital muscular dystrophy","GARD_Synonym__c":"cmd; mdc","Curated_Disease_Description_Source__c":"GARD:0009138","Curated_Disease_Description__c":"Congenital muscular dystrophy (CMD) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. Common features include hypotonia; progressive muscle weakness and degeneration (atrophy); joint contractures; and delayed motor milestones (i.e. sitting up, walking, etc). CMD can be caused by a variety of different genes. Most forms are inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:97242","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019950","ORPHANET_ID__c":"ORPHA:97242","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular congénita","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distrofia muscular congénita","Spanish_GARD_Synonym__c":"cmd; mdc","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":"Congenital muscular dystrophy (CMD) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. Common features include hypotonia; progressive muscle weakness and degeneration (atrophy); joint contractures; and delayed motor milestones (i.e. sitting up, walking, etc). CMD can be caused by a variety of different genes. Most forms are inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0009138","GARD_Synonym__c":"cmd; mdc","Name":"Congenital muscular dystrophy","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Muscular Dystrophy Family Foundation","Website__c":"https://mdff.org/"},{"Account_Name__c":"Cure CMD - Congenital Muscular Dystrophy","Website__c":"https://www.curecmd.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy UK","Website__c":"https://www.musculardystrophyuk.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":"Neonatal","Provided_By__c":"ORPHA:97242"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:97242"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0699743","Source__c":"C0699743","Xref__c":"C0699743"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=240059009","Source__c":"MONDO:0019950","Xref__c":"240059009"},{"URL__c":"https://www.orpha.net/en/disease/detail/97242","Source__c":"C0699743; MONDO:0019950; ORPHA:97242","Xref__c":"ORPHA:97242"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=147063","Source__c":"C0699743","Xref__c":"MEDGEN:147063"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050557","Source__c":"MONDO:0019950","Xref__c":"DOID:0050557"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019950","Source__c":"GARD:0009138","Xref__c":"MONDO:0019950"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["cmd"," mdc"]}