{"Name":"Striatal degeneration, autosomal dominant","DiseaseID__c":"GARD:0017146","id":17146,"encodedName":"striatal-degeneration-autosomal-dominant","IsDeleted":false,"Disease_Name_Full__c":"Striatal degeneration, autosomal dominant","Xref_IDs__c":"C1836694; C563783; MEDGEN:322971; MONDO:0000211; OMIMPS:609161; ORPHA:228169","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0000211","Disease_Description__c":"An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.","GARD_Name__c":"Striatal degeneration, autosomal dominant","GARD_Synonym__c":"adsd; autosomal dominant striatal neurodegeneration","Curated_Disease_Description_Source__c":"MONDO:0000211","Curated_Disease_Description__c":"An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:228169","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000211","ORPHANET_ID__c":"ORPHA:228169","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neurodegeneración estriatal autosómica dominante","Spanish_Description_Source__c":"ORPHA:228169","Spanish_Description__c":"Es un trastorno del movimiento de inicio en la edad adulta caracterizado por bradicinesia, disartria y rigidez muscular.","Spanish_Disease_Name__c":"neurodegeneración estriatal autosómica dominante","Spanish_GARD_Synonym__c":"adsd","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":"An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.","Curated_Disease_Description_Source__c":"MONDO:0000211","GARD_Synonym__c":"adsd; autosomal dominant striatal neurodegeneration","Name":"Striatal degeneration, autosomal dominant","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Parkinson & Movement Disorder Alliance","Website__c":"https://www.pmdalliance.org/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.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":"Parkinsonism","Tag_Category__c":"Account","curated_tag_name":"Parkinsonism"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:228169"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/228169","Source__c":"C1836694; MONDO:0000211","Xref__c":"ORPHA:228169"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836694","Source__c":"C1836694","Xref__c":"C1836694"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563783","Source__c":"MONDO:0000211","Xref__c":"C563783"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322971","Source__c":"C1836694","Xref__c":"MEDGEN:322971"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS609161","Source__c":"MONDO:0000211","Xref__c":"OMIMPS:609161"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000211","Source__c":"GARD:0017146","Xref__c":"MONDO:0000211"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PDE8B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:228169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228169","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002075","HPO_Synonym__c":"Difficulty performing quick and alternating movements; Dysdiadochokinesia","HPO_Name__c":"Dysdiadochokinesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228169","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:228169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002067","HPO_Synonym__c":"Slow movements; Slowness of movements","HPO_Name__c":"Bradykinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology"],"Account":["Parkinsonism"]},"synonyms":["adsd"," autosomal dominant striatal neurodegeneration"]}