{"Name":"Congenital muscular dystrophy with hyperlaxity","DiseaseID__c":"GARD:0021600","id":21600,"encodedName":"congenital-muscular-dystrophy-with-hyperlaxity","IsDeleted":false,"Disease_Name_Full__c":"Congenital muscular dystrophy with hyperlaxity","Xref_IDs__c":"763314009; C4706389; MEDGEN:1633415; MONDO:0018281; ORPHA:371007","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018281","Disease_Description__c":"Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.","GARD_Name__c":"Congenital muscular dystrophy with hyperlaxity","GARD_Synonym__c":"cmdh","Curated_Disease_Description_Source__c":"MONDO:0018281","Curated_Disease_Description__c":"Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:371007","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018281","ORPHANET_ID__c":"ORPHA:371007","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular congénita con hiperlaxitud","Spanish_Description_Source__c":"ORPHA:371007","Spanish_Description__c":"La distrofia muscular congénita con hiperlaxitud es una enfermedad neuromuscular genética poco frecuente caracterizada por hipotonía congénita, debilidad muscular generalizada lentamente progresiva, y contracturas articulares proximales con hipermovilidad e hiperlaxitud articular distal. También se ha descrito con frecuencia asociación con escoliosis o rigidez espinal y retraso del desarrollo motor. Otras manifestaciones incluyen facies miopática alargada y, en casos raros, insuficiencia respiratoria, retraso intelectual de leve a moderado y baja estatura. La deambulación puede verse afectada con el tiempo.","Spanish_Disease_Name__c":"distrofia muscular congénita con hiperlaxitud","Spanish_GARD_Synonym__c":"cmdh","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 with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.","Curated_Disease_Description_Source__c":"MONDO:0018281","GARD_Synonym__c":"cmdh","Name":"Congenital muscular dystrophy with hyperlaxity","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":"Neonatal","Provided_By__c":"ORPHA:371007"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1633415","Source__c":"C4706389","Xref__c":"MEDGEN:1633415"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763314009","Source__c":"C4706389; MONDO:0018281","Xref__c":"763314009"},{"URL__c":"https://www.orpha.net/en/disease/detail/371007","Source__c":"C4706389; MONDO:0018281; ORPHA:371007","Xref__c":"ORPHA:371007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706389","Source__c":"C4706389","Xref__c":"C4706389"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018281","Source__c":"GARD:0021600","Xref__c":"MONDO:0018281"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["cmdh"]}