{"Name":"Spinal muscular atrophy with respiratory distress type 2","DiseaseID__c":"GARD:0021723","id":21723,"encodedName":"spinal-muscular-atrophy-with-respiratory-distress-type-2","IsDeleted":false,"Disease_Name_Full__c":"Spinal muscular atrophy with respiratory distress type 2","Xref_IDs__c":"770727008; C4749434; MEDGEN:1658540; MONDO:0018450; ORPHA:404521","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018450","Disease_Description__c":"Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.","GARD_Name__c":"Spinal muscular atrophy with respiratory distress type 2","GARD_Synonym__c":"diaphragmatic spinal muscular atrophy type 2; severe infantile axonal neuropathy with respiratory failure type 2; smard2; smard2 - spinal muscular atrophy with respiratory distress type 2; x-linked spinal muscular atrophy with respiratory distress","Curated_Disease_Description_Source__c":"MONDO:0018450","Curated_Disease_Description__c":"Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:404521","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018450","ORPHANET_ID__c":"ORPHA:404521","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal con insuficiencia respiratoria tipo 2","Spanish_Description_Source__c":"ORPHA:404521","Spanish_Description__c":"La atrofia muscular espinal con insuficiencia respiratoria tipo 2, es una enfermedad de la motoneurona, genética y poco frecuente, caracterizada por insuficiencia respiratoria progresiva temprana asociada a parálisis del diafragma, debilidad muscular distal, contracturas articulares e hipotonía axial con movimientos antigravitatorios preservados en las extremidades. El fenotipo se solapa considerablemente con SMARD tipo 1, pero se diferencia por una mutación en un gen diferente.","Spanish_Disease_Name__c":"atrofia muscular espinal con insuficiencia respiratoria tipo 2","Spanish_GARD_Synonym__c":"atrofia muscular espinal diafragmática tipo 2; atrofia muscular espinal ligada al cromosoma x con insuficiencia respiratoria; neuropatía axonal infantil grave con insuficiencia respiratoria tipo 2; smard2","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 muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.","Curated_Disease_Description_Source__c":"MONDO:0018450","GARD_Synonym__c":"diaphragmatic spinal muscular atrophy type 2; severe infantile axonal neuropathy with respiratory failure type 2; smard2; smard2 - spinal muscular atrophy with respiratory distress type 2; x-linked spinal muscular atrophy with respiratory distress","Name":"Spinal muscular atrophy with respiratory distress type 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure SMA","Website__c":"https://www.curesma.org/"},{"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"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:404521"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/404521","Source__c":"C4749434; MONDO:0018450; ORPHA:404521","Xref__c":"ORPHA:404521"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749434","Source__c":"C4749434","Xref__c":"C4749434"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1658540","Source__c":"C4749434","Xref__c":"MEDGEN:1658540"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770727008","Source__c":"C4749434","Xref__c":"770727008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018450","Source__c":"GARD:0021723","Xref__c":"MONDO:0018450"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LAS1L","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["diaphragmatic spinal muscular atrophy type 2"," severe infantile axonal neuropathy with respiratory failure type 2"," smard2"," smard2 - spinal muscular atrophy with respiratory distress type 2"," x-linked spinal muscular atrophy with respiratory distress"]}