{"Name":"Hereditary spastic paraplegia 19","DiseaseID__c":"GARD:0009588","id":9588,"encodedName":"hereditary-spastic-paraplegia-19","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 19","Xref_IDs__c":"763375003; C1846685; C536856; DOID:0110772; MEDGEN:335494; MONDO:0011785; OMIM:607152; ORPHA:100999","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011785","Disease_Description__c":"A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.","GARD_Name__c":"Hereditary spastic paraplegia 19","GARD_Synonym__c":"autosomal dominant spastic paraplegia 19; autosomal dominant spastic paraplegia type 19; hereditary spastic paraplegia type 19; spastic paraplegia 19, autosomal dominant; spg19","Curated_Disease_Description_Source__c":"MONDO:0011785","Curated_Disease_Description__c":"A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:100999","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011785","ORPHANET_ID__c":"ORPHA:100999","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica dominante tipo 19","Spanish_Description_Source__c":"ORPHA:100999","Spanish_Description__c":"Es una forma pura de paraplejía espástica hereditaria caracterizada por una paraplejía espástica lentamente progresiva y relativamente benigna que se presenta en la edad adulta con marcha espástica, hiperreflexia de miembros inferiores, respuestas plantares extensoras, disfunción vesical (urgencia urinaria y/o incontinencia) y neuropatía periférica sensitivomotora leve.","Spanish_Disease_Name__c":"paraplejía espástica autosómica dominante tipo 19","Spanish_GARD_Synonym__c":"spg19","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":"A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.","Curated_Disease_Description_Source__c":"MONDO:0011785","GARD_Synonym__c":"autosomal dominant spastic paraplegia 19; 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