{"Name":"Muscular dystrophy","DiseaseID__c":"GARD:0007922","id":7922,"encodedName":"muscular-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Muscular dystrophy","Xref_IDs__c":"73297009; C0026850; C84910; D009136; DOID:9884; G71.0; HP:0003560; MEDGEN:44527; MONDO:0020121; ORPHA:98473","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020121","Disease_Description__c":"Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.","GARD_Name__c":"Muscular dystrophy","GARD_Synonym__c":"md - muscular dystrophy; muscle biopsy shows dystrophic changes; pmd - progressive muscular dystrophy","Curated_Disease_Description_Source__c":"GARD:0007922","Curated_Disease_Description__c":"Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98473","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020121","ORPHANET_ID__c":"ORPHA:98473","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distrofia muscular","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":"Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.","Curated_Disease_Description_Source__c":"GARD:0007922","GARD_Synonym__c":"md - muscular dystrophy; muscle biopsy shows dystrophic changes; pmd - progressive muscular dystrophy","Name":"Muscular dystrophy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"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":"Asociación Distrofia Muscular para las Enfermedades Neuromusculares","Website__c":"https://adm.org.ar/newsite/"},{"Account_Name__c":"Asociación Colombiana para la Distrofia Muscular","Website__c":"http://acdmcolombia.weebly.com/"},{"Account_Name__c":"Asociación Madrileña de personas con Enfermedades Neuromusculares","Website__c":"http://www.asemmadrid.org/es/"},{"Account_Name__c":"Asociación de Distrofia Muscular de Puerto Rico","Website__c":"http://www.prmda.org/"},{"Account_Name__c":"Sociedad Mexicana de la Distrofia Muscular AC","Website__c":"http://smdm.inr.gob.mx"},{"Account_Name__c":"Muscular Dystrophy Family Foundation","Website__c":"https://mdff.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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0026850"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0699743"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009136","Source__c":"C0026850; MONDO:0020121","Xref__c":"D009136"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G71.0","Source__c":"MONDO:0020121","Xref__c":"G71.0"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=73297009","Source__c":"C0026850; MONDO:0020121","Xref__c":"73297009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9884","Source__c":"MONDO:0020121","Xref__c":"DOID:9884"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84910","Source__c":"C0026850; MONDO:0020121","Xref__c":"C84910"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44527","Source__c":"C0026850","Xref__c":"MEDGEN:44527"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0026850","Source__c":"C0026850","Xref__c":"C0026850"},{"URL__c":"https://www.orpha.net/en/disease/detail/98473","Source__c":"C0026850; MONDO:0020121; ORPHA:98473","Xref__c":"ORPHA:98473"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020121","Source__c":"GARD:0007922","Xref__c":"MONDO:0020121"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003560","Source__c":"C0026850","Xref__c":"HP:0003560"},{"URL__c":"https://medlineplus.gov/musculardystrophy.html"},{"URL__c":"https://www.nichd.nih.gov/health/topics/musculardys"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Muscular Dystrophy"]},"synonyms":["md - muscular dystrophy"," muscle biopsy shows dystrophic changes"," pmd - progressive muscular dystrophy"],"spanishId":12609,"spanishName":"distrofia-muscular"}