{"Name":"Bulbospinal muscular atrophy","DiseaseID__c":"GARD:0020365","id":20365,"encodedName":"bulbospinal-muscular-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Bulbospinal muscular atrophy","Xref_IDs__c":"230253001; C0393547; MEDGEN:95977; MONDO:0016113; ORPHA:206701","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":0,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:206701","Disease_Description__c":null,"GARD_Name__c":"Bulbospinal muscular atrophy","GARD_Synonym__c":"bulbospinal neuronopathy; sbma; spinal and bulbal muscular atrophy; spinal-bulbar muscular atrophy","Curated_Disease_Description_Source__c":"ORPHA:206701","Curated_Disease_Description__c":"Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).\r\n\r\nSpinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. Muscle wasting in the arms and legs results in cramping; leg muscle weakness can also lead to difficulty walking and a tendency to fall. Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Additionally, muscle twitches (fasciculations) are common. Some males with the disorder experience unusual breast development (gynecomastia) and may be unable to father a child (infertile).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:206701","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016113","ORPHANET_ID__c":"ORPHA:206701","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular bulboespinal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"atrofia muscular bulboespinal","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":"Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).\r\n\r\nSpinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. Muscle wasting in the arms and legs results in cramping; leg muscle weakness can also lead to difficulty walking and a tendency to fall. Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Additionally, muscle twitches (fasciculations) are common. Some males with the disorder experience unusual breast development (gynecomastia) and may be unable to father a child (infertile).","Curated_Disease_Description_Source__c":"ORPHA:206701","GARD_Synonym__c":"bulbospinal neuronopathy; sbma; spinal and bulbal muscular atrophy; spinal-bulbar muscular atrophy","Name":"Bulbospinal muscular atrophy","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393547","Source__c":"C0393547","Xref__c":"C0393547"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230253001","Source__c":"C0393547; MONDO:0016113","Xref__c":"230253001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=95977","Source__c":"C0393547","Xref__c":"MEDGEN:95977"},{"URL__c":"https://www.orpha.net/en/disease/detail/206701","Source__c":"C0393547; MONDO:0016113; ORPHA:206701","Xref__c":"ORPHA:206701"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016113","Source__c":"GARD:0020365","Xref__c":"MONDO:0016113"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1333","Source__c":"Gene Review","Xref__c":"NBK1333"},{"URL__c":"https://medlineplus.gov/genetics/condition/spinal-and-bulbar-muscular-atrophy"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["bulbospinal neuronopathy"," sbma"," spinal and bulbal muscular atrophy"," spinal-bulbar muscular atrophy"]}