{"Name":"Congenital myopathy, Paradas type","DiseaseID__c":"GARD:0020335","id":20335,"encodedName":"congenital-myopathy-paradas-type","IsDeleted":false,"Disease_Name_Full__c":"Congenital myopathy, Paradas type","Xref_IDs__c":"C4511057; MEDGEN:1388555; MONDO:0016049; ORPHA:199329","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":2,"Description_Source__c":"MONDO:0016049","Disease_Description__c":"A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.","GARD_Name__c":"Congenital myopathy, Paradas type","GARD_Synonym__c":"congenital muscular dystrophy paradas type; congenital myopathy paradas type","Curated_Disease_Description_Source__c":"MONDO:0016049","Curated_Disease_Description__c":"A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:199329","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016049","ORPHANET_ID__c":"ORPHA:199329","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía congénita tipo paradas","Spanish_Description_Source__c":"ORPHA:199329","Spanish_Description__c":"Es una distrofia muscular congénita poco frecuente caracterizada por la aparición temprana de hipotonía, retraso del desarrollo motor y debilidad muscular generalizada de progresión variable. Se ha descrito la afectación predominante de los músculos flexores del cuello y de la pelvis, así como la afectación temprana de los isquiotibiales y el gastrocnemio medial visible en la RM muscular. Los niveles séricos de creatinquinasa están marcadamente elevados (en algunos casos ya desde la primera infancia). La biopsia muscular muestra ausencia de disferlina.","Spanish_Disease_Name__c":"miopatía congénita tipo paradas","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 congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.","Curated_Disease_Description_Source__c":"MONDO:0016049","GARD_Synonym__c":"congenital muscular dystrophy paradas type; congenital myopathy paradas type","Name":"Congenital myopathy, Paradas type","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:199329"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:199329"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/199329","Source__c":"C4511057; MONDO:0016049; ORPHA:199329","Xref__c":"ORPHA:199329"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4511057","Source__c":"C4511057","Xref__c":"C4511057"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1388555","Source__c":"C4511057","Xref__c":"MEDGEN:1388555"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725420009","Source__c":"C4511057","Xref__c":"725420009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016049","Source__c":"GARD:0020335","Xref__c":"MONDO:0016049"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DYSF","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dysf","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":["congenital muscular dystrophy paradas type"," congenital myopathy paradas type"]}