{"Name":"Spinocerebellar ataxia type 11","DiseaseID__c":"GARD:0010475","id":10475,"encodedName":"spinocerebellar-ataxia-type-11","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia type 11","Xref_IDs__c":"719207000; C1858351; C565772; DOID:0050961; MEDGEN:346799; MONDO:0011464; NBK1757; OMIM:604432; ORPHA:98767","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":4,"Description_Source__c":"MONDO:0011464","Disease_Description__c":"A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.","GARD_Name__c":"Spinocerebellar ataxia type 11","GARD_Synonym__c":"sca11; spinocerebellar ataxia type11","Curated_Disease_Description_Source__c":"GARD:0010475","Curated_Disease_Description__c":"Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. Diagnosis is based on signs and symptoms and is confirmed by genetic testing finding a change in the TTBK2 gene. It is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:98767","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011464","ORPHANET_ID__c":"ORPHA:98767","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa tipo 11","Spanish_Description_Source__c":"ORPHA:98767","Spanish_Description__c":"La ataxia espinocerebelosa tipo 11 (SCA11) es una enfermedad neurológica poco frecuente caracterizada por la aparición temprana de signos cerebelosos, anomalías de los movimientos oculares y signos piramidales.","Spanish_Disease_Name__c":"ataxia espinocerebelosa tipo 11","Spanish_GARD_Synonym__c":"sca11","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 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. Diagnosis is based on signs and symptoms and is confirmed by genetic testing finding a change in the TTBK2 gene. It is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0010475","GARD_Synonym__c":"sca11; spinocerebellar ataxia type11","Name":"Spinocerebellar ataxia type 11","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:98767"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98767"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98767"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:98767"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1858351"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010475","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1757","Source__c":"Gene Review","Xref__c":"NBK1757"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565772","Source__c":"MONDO:0011464","Xref__c":"C565772"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858351","Source__c":"C1858351","Xref__c":"C1858351"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719207000","Source__c":"C1858351; MONDO:0011464","Xref__c":"719207000"},{"URL__c":"https://www.omim.org/entry/604432","Source__c":"C1858351; MONDO:0011464; ORPHA:98767","Xref__c":"OMIM:604432"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050961","Source__c":"MONDO:0011464","Xref__c":"DOID:0050961"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346799","Source__c":"C1858351","Xref__c":"MEDGEN:346799"},{"URL__c":"https://www.orpha.net/en/disease/detail/98767","Source__c":"C1858351; MONDO:0011464; ORPHA:98767","Xref__c":"ORPHA:98767"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011464","Source__c":"GARD:0010475","Xref__c":"MONDO:0011464"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TTBK2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002141","HPO_Synonym__c":"Abnormality of balance; Abnormality of equilibrium; Imbalanced walk","HPO_Name__c":"Gait imbalance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98767","HPO_Frequency__c":"Uncommon (<1-4%)","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:98767","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008003","HPO_Synonym__c":"Jerky smooth pursuit","HPO_Name__c":"Jerky ocular pursuit movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98767","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:98767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98767","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"}},{"Provided_By__c":"ORPHA:98767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010544","HPO_Name__c":"Vertical nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98767","HPO_Frequency__c":"Very frequent (80-99%)","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:98767","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"}},{"Provided_By__c":"ORPHA:98767","HPO_Frequency__c":"Uncommon (<1-4%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Pediatrics"],"Account":["Ataxia"]},"synonyms":["sca11"," spinocerebellar ataxia type11"]}