{"Name":"X-linked spinocerebellar ataxia type 4","DiseaseID__c":"GARD:0009980","id":9980,"encodedName":"x-linked-spinocerebellar-ataxia-type-4","IsDeleted":false,"Disease_Name_Full__c":"X-linked spinocerebellar ataxia type 4","Xref_IDs__c":"719818007; C1844933; C537316; DOID:0111832; MEDGEN:337122; MONDO:0010534; OMIM:301840; ORPHA:85292","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010534","Disease_Description__c":"A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent.","GARD_Name__c":"X-linked spinocerebellar ataxia type 4","GARD_Synonym__c":"scax4; spinocerebellar ataxia, x-linked type 4; x-linked ataxia dementia syndrome; x-linked ataxia-dementia syndrome","Curated_Disease_Description_Source__c":"MONDO:0010534","Curated_Disease_Description__c":"A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:85292","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010534","ORPHANET_ID__c":"ORPHA:85292","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa ligada al cromosoma x tipo 4","Spanish_Description_Source__c":"ORPHA:85292","Spanish_Description__c":"Es una ataxia espinocerebelosa poco frecuente ligada al cromosoma X caracterizada por ataxia, signos del tracto piramidal y demencia de inicio en la edad adulta. La enfermedad se manifiesta durante la primera infancia con retraso en la adquisición de la marcha y temblores. Los signos piramidales aparecen progresivamente y en la edad adulta se hacen evidentes los problemas de memoria y la demencia de forma gradual.","Spanish_Disease_Name__c":"ataxia espinocerebelosa ligada al cromosoma x tipo 4","Spanish_GARD_Synonym__c":"scax4; síndrome de demencia-ataxia ligada al cromosoma x","Category_Linearization__c":"ORPHA:93890","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 rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent.","Curated_Disease_Description_Source__c":"MONDO:0010534","GARD_Synonym__c":"scax4; spinocerebellar ataxia, x-linked type 4; x-linked ataxia dementia syndrome; x-linked ataxia-dementia syndrome","Name":"X-linked spinocerebellar ataxia type 4","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Ataxia UK","Website__c":"https://www.ataxia.org.uk/"}],"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":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:85292"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/301840","Source__c":"C1844933; MONDO:0010534; ORPHA:85292","Xref__c":"OMIM:301840"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537316","Source__c":"MONDO:0010534","Xref__c":"C537316"},{"URL__c":"https://www.orpha.net/en/disease/detail/85292","Source__c":"C1844933; MONDO:0010534; ORPHA:85292","Xref__c":"ORPHA:85292"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844933","Source__c":"C1844933","Xref__c":"C1844933"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111832","Source__c":"MONDO:0010534","Xref__c":"DOID:0111832"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719818007","Source__c":"C1844933; MONDO:0010534","Xref__c":"719818007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337122","Source__c":"C1844933","Xref__c":"MEDGEN:337122"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010534","Source__c":"GARD:0009980","Xref__c":"MONDO:0010534"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85292","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of tremors that is triggered by holding a limb in a fixed position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002174","HPO_Name__c":"Postural tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85292","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85292","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85292","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85292","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85292","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85292","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002073","HPO_Synonym__c":"Cerebellar ataxia, progressive; Progressive ataxia","HPO_Name__c":"Progressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Neurodevelopmental disabilities"],"Account":["Ataxia"]},"synonyms":["scax4"," spinocerebellar ataxia, x-linked type 4"," x-linked ataxia dementia syndrome"," x-linked ataxia-dementia syndrome"]}