{"Name":"Neuromuscular disease caused by qualitative or quantitative defects of dysferlin","DiseaseID__c":"GARD:0002003","id":2003,"encodedName":"neuromuscular-disease-caused-by-qualitative-or-quantitative-defects-of-dysferlin","IsDeleted":false,"Disease_Name_Full__c":"Neuromuscular disease caused by qualitative or quantitative defects of dysferlin","Xref_IDs__c":"C2931687; C537995; MEDGEN:419874; MONDO:0016145; ORPHA:207073","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":0,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"GARD:0002003","Disease_Description__c":"The diseases in the group are: All dysferlinopathies are caused by pathogenic variations in the DYSF gene which result in a deficiency of the protein dysferlin (hence, the name), important for the efficient repair of muscle fibers. Inheritance is autosomal recessive.","GARD_Name__c":"Neuromuscular disease caused by qualitative or quantitative defects of dysferlin","GARD_Synonym__c":"dysferlinopathy; qualitative or quantitative defects of dysferlin","Curated_Disease_Description_Source__c":"GARD:0002003","Curated_Disease_Description__c":"This group of rare muscle diseases affects the muscles used for movement and is caused by harmful changes in a gene called DYSF, which lead to low levels of a protein needed to repair muscle fibers. These diseases are inherited in an autosomal recessive way, meaning a person is affected when they receive a changed copy of the gene from both parents. People may show different patterns of muscle weakness. Some develop weakness and loss of muscle size in the lower legs, especially the calf muscles, usually starting around late teenage years and slowly spreading to the thighs and buttocks over time. The lower arms may also become somewhat thin with weaker grip strength, but the small muscles of the hands usually remain working. Others have weakness in the muscles around the hips and shoulders, often starting in adolescence or young adulthood and progressing slowly. Some people only have high blood levels of a muscle enzyme, and others have weakness mainly in the front lower leg muscles.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:207073","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016145","ORPHANET_ID__c":"ORPHA:207073","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Defectos cualitativos o cuantitativos de la disferlina","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"defectos cualitativos o cuantitativos de la disferlina","Spanish_GARD_Synonym__c":"disferlinopatía","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":"This group of rare muscle diseases affects the muscles used for movement and is caused by harmful changes in a gene called DYSF, which lead to low levels of a protein needed to repair muscle fibers. These diseases are inherited in an autosomal recessive way, meaning a person is affected when they receive a changed copy of the gene from both parents. People may show different patterns of muscle weakness. Some develop weakness and loss of muscle size in the lower legs, especially the calf muscles, usually starting around late teenage years and slowly spreading to the thighs and buttocks over time. The lower arms may also become somewhat thin with weaker grip strength, but the small muscles of the hands usually remain working. Others have weakness in the muscles around the hips and shoulders, often starting in adolescence or young adulthood and progressing slowly. Some people only have high blood levels of a muscle enzyme, and others have weakness mainly in the front lower leg muscles.","Curated_Disease_Description_Source__c":"GARD:0002003","GARD_Synonym__c":"dysferlinopathy; qualitative or quantitative defects of dysferlin","Name":"Neuromuscular disease caused by qualitative or quantitative defects of dysferlin","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Muscular Dystrophy Family Foundation","Website__c":"https://mdff.org/"},{"Account_Name__c":"Jain Foundation","Website__c":"https://www.jain-foundation.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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931687"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931687","Source__c":"C2931687","Xref__c":"C2931687"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419874","Source__c":"C2931687","Xref__c":"MEDGEN:419874"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537995","Source__c":"MONDO:0016145","Xref__c":"C537995"},{"URL__c":"https://www.orpha.net/en/disease/detail/207073","Source__c":"C2931687; MONDO:0016145; ORPHA:207073","Xref__c":"ORPHA:207073"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016145","Source__c":"GARD:0002003","Xref__c":"MONDO:0016145"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1303","Source__c":"Gene Review","Xref__c":"NBK1303"}],"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}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics"]},"synonyms":["dysferlinopathy"," qualitative or quantitative defects of dysferlin"],"spanishId":13577,"spanishName":"disferlinopatias"}