{"Name":"Spinocerebellar ataxia type 17","DiseaseID__c":"GARD:0010469","id":10469,"encodedName":"spinocerebellar-ataxia-type-17","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia type 17","Xref_IDs__c":"719249005; C179861; C1846707; C563505; C564616; C565866; DOID:0050967; MEDGEN:337637; MONDO:0011781; NBK1438; OMIM:607136; ORPHA:98759","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011781","Disease_Description__c":"Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.","GARD_Name__c":"Spinocerebellar ataxia type 17","GARD_Synonym__c":"cerebelloparenchymal disorder ii; cpd2; hdl4; huntington disease-like 4; olivopontocerebellar atrophy 5; olivopontocerebellar atrophy type 5; olivopontocerebellar atrophy v; opca v; opca with dementia and extrapyramidal signs; sca 17; sca17; spinocerebellar ataxia 17; spinocerebellar ataxia type17","Curated_Disease_Description_Source__c":"MONDO:0011781","Curated_Disease_Description__c":"Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:98759","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011781","ORPHANET_ID__c":"ORPHA:98759","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa tipo 17","Spanish_Description_Source__c":"ORPHA:98759","Spanish_Description__c":"La ataxia espinocerebelosa tipo 17 (SCA17) es un subtipo poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I). Se caracteriza por un cuadro clínico variable que puede incluir demencia, alteraciones psiquiátricas, parkinsonismo, distonía, corea, espasticidad y epilepsia.","Spanish_Disease_Name__c":"ataxia espinocerebelosa tipo 17","Spanish_GARD_Synonym__c":"enfermedad similar a huntington, tipo 4; hdl4; sca17","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":"Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course.","Curated_Disease_Description_Source__c":"MONDO:0011781","GARD_Synonym__c":"cerebelloparenchymal disorder ii; cpd2; hdl4; huntington disease-like 4; olivopontocerebellar atrophy 5; olivopontocerebellar atrophy type 5; olivopontocerebellar atrophy v; opca v; opca with dementia and extrapyramidal signs; sca 17; sca17; spinocerebellar ataxia 17; spinocerebellar ataxia type17","Name":"Spinocerebellar ataxia type 17","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.org/"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:98759"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1846707"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010469","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1438","Source__c":"Gene Review","Xref__c":"NBK1438"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1138","Xref__c":"NBK1138"},{"URL__c":"https://www.omim.org/entry/607136","Source__c":"C1846707; MONDO:0011781; ORPHA:98759","Xref__c":"OMIM:607136"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C179861","Source__c":"C1846707; MONDO:0011781","Xref__c":"C179861"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337637","Source__c":"C1846707","Xref__c":"MEDGEN:337637"},{"URL__c":"https://www.orpha.net/en/disease/detail/98759","Source__c":"C1846707; MONDO:0011781; ORPHA:98759","Xref__c":"ORPHA:98759"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564616","Source__c":"MONDO:0011781","Xref__c":"C564616"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563505","Source__c":"MONDO:0011781","Xref__c":"C563505"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719249005","Source__c":"C1846707; MONDO:0011781","Xref__c":"719249005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846707","Source__c":"C1846707","Xref__c":"C1846707"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050967","Source__c":"MONDO:0011781","Xref__c":"DOID:0050967"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565866","Source__c":"MONDO:0011781","Xref__c":"C565866"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011781","Source__c":"GARD:0010469","Xref__c":"MONDO:0011781"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tbp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","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:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002356","HPO_Synonym__c":"Writer's cramp","HPO_Name__c":"Writer's cramp","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized atrophy or hypoplasia of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007058","HPO_Synonym__c":"Generalized cerebral degeneration/underdevelopment","HPO_Name__c":"Generalized cerebral atrophy/hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","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:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000643","HPO_Synonym__c":"Eyelid spasm; Eyelid twitching; Involuntary closure of eyelid; Spontaneous closure of eyelid","HPO_Name__c":"Blepharospasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007366","HPO_Synonym__c":"Brainstem atrophy","HPO_Name__c":"Atrophy/Degeneration affecting the brainstem","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001300","HPO_Name__c":"Parkinsonism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Very frequent (80-99%)","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:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002072","HPO_Synonym__c":"Choreic movements; Choreiform movements","HPO_Name__c":"Chorea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the cerebellum affecting primarily the Purkinje cell layer.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012082","HPO_Name__c":"Cerebellar Purkinje layer atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002529","HPO_Synonym__c":"Loss of brain cells; Neuronal loss; Neuronal loss in CNS","HPO_Name__c":"Neuronal loss in central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98759","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004305","HPO_Synonym__c":"Involuntary movements; Involuntary muscle contractions","HPO_Name__c":"Involuntary movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Pediatrics"],"Account":["Ataxia"]},"synonyms":["cerebelloparenchymal disorder ii"," cpd2"," hdl4"," huntington disease-like 4"," olivopontocerebellar atrophy 5"," olivopontocerebellar atrophy type 5"," olivopontocerebellar atrophy v"," opca v"," opca with dementia and extrapyramidal signs"," sca 17"," sca17"," spinocerebellar ataxia 17"," spinocerebellar ataxia type17"]}