{"Name":"Congenital myopathy","DiseaseID__c":"GARD:0005898","id":5898,"encodedName":"congenital-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Congenital myopathy","Xref_IDs__c":"C0270960; DOID:0081337; MEDGEN:124381; MONDO:0019952; OMIMPS:117000; ORPHA:97245","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:97245","Disease_Description__c":null,"GARD_Name__c":"Congenital myopathy","GARD_Synonym__c":"congenital myopathy, undefined/nonspecific","Curated_Disease_Description_Source__c":"NINDS","Curated_Disease_Description__c":"Congenital myopathy is a term for any genetic muscle disorder that is typically noticed at birth and includes weakness and lack of muscle tone. Some congenital myopathies may not show symptoms until infancy or childhood. Myopathy happens when there is a problem with a muscle, a nerve that works with the muscle, or the brain itself. There are many types of congenital myopathy with varying severity. Some symptoms may remain stable or progress slowly. Some symptoms may include lack of muscle control and weakness, difficulty breathing, difficulty eating, slow to reach developmental goals, delayed motor (movement) skills, and skeletal problems (such as a curved spine).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:97245","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019952","ORPHANET_ID__c":"ORPHA:97245","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía congénita","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía congénita","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":"Congenital myopathy is a term for any genetic muscle disorder that is typically noticed at birth and includes weakness and lack of muscle tone. Some congenital myopathies may not show symptoms until infancy or childhood. Myopathy happens when there is a problem with a muscle, a nerve that works with the muscle, or the brain itself. There are many types of congenital myopathy with varying severity. Some symptoms may remain stable or progress slowly. Some symptoms may include lack of muscle control and weakness, difficulty breathing, difficulty eating, slow to reach developmental goals, delayed motor (movement) skills, and skeletal problems (such as a curved spine).","Curated_Disease_Description_Source__c":"NINDS","GARD_Synonym__c":"congenital myopathy, undefined/nonspecific","Name":"Congenital myopathy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0270960"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124381","Source__c":"C0270960","Xref__c":"MEDGEN:124381"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081337","Source__c":"MONDO:0019952","Xref__c":"DOID:0081337"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS117000","Source__c":"MONDO:0019952","Xref__c":"OMIMPS:117000"},{"URL__c":"https://www.orpha.net/en/disease/detail/97245","Source__c":"C0270960; MONDO:0019952; ORPHA:97245","Xref__c":"ORPHA:97245"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0270960","Source__c":"C0270960","Xref__c":"C0270960"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019952","Source__c":"GARD:0005898","Xref__c":"MONDO:0019952"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/congenital-myopathy"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["congenital myopathy, undefined/nonspecific"]}