{"Name":"Spinal atrophy-ophthalmoplegia-pyramidal syndrome","DiseaseID__c":"GARD:0004942","id":4942,"encodedName":"spinal-atrophy-ophthalmoplegia-pyramidal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spinal atrophy-ophthalmoplegia-pyramidal syndrome","Xref_IDs__c":"C2930956; C535625; MEDGEN:419294; MONDO:0015250; ORPHA:1217","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":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015250","Disease_Description__c":"Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.","GARD_Name__c":"Spinal atrophy-ophthalmoplegia-pyramidal syndrome","GARD_Synonym__c":"hamano tsukamoto syndrome; hamano-tsukamoto syndrome; spinal atrophy, ophthalmoplegia, pyramidal syndrome","Curated_Disease_Description_Source__c":"MONDO:0015250","Curated_Disease_Description__c":"Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1217","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015250","ORPHANET_ID__c":"ORPHA:1217","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia espinal-oftalmoplejía-síndrome piramidal","Spanish_Description_Source__c":"ORPHA:1217","Spanish_Description__c":"Es una atrofia muscular bulboespinal poco frecuente caracterizada por hipotonía neonatal generalizada, parálisis espinal y pontobulbar progresiva, signos piramidales y sordera. También son características la oftalmoplejía externa y midriasis bilateral. No ha habido más casos descritos en la literatura desde 1994.","Spanish_Disease_Name__c":"atrofia espinal-oftalmoplejía-síndrome piramidal","Spanish_GARD_Synonym__c":"síndrome de hamano-tsukamoto","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 atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.","Curated_Disease_Description_Source__c":"MONDO:0015250","GARD_Synonym__c":"hamano tsukamoto syndrome; hamano-tsukamoto syndrome; spinal atrophy, ophthalmoplegia, pyramidal syndrome","Name":"Spinal atrophy-ophthalmoplegia-pyramidal syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1217"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419294","Source__c":"C2930956","Xref__c":"MEDGEN:419294"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2930956","Source__c":"C2930956","Xref__c":"C2930956"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535625","Source__c":"MONDO:0015250","Xref__c":"C535625"},{"URL__c":"https://www.orpha.net/en/disease/detail/1217","Source__c":"C2930956; MONDO:0015250; ORPHA:1217","Xref__c":"ORPHA:1217"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771238004","Source__c":"C2930956","Xref__c":"771238004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015250","Source__c":"GARD:0004942","Xref__c":"MONDO:0015250"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["hamano tsukamoto syndrome"," hamano-tsukamoto syndrome"," spinal atrophy, ophthalmoplegia, pyramidal syndrome"]}