{"Name":"Spinocerebellar ataxia type 6","DiseaseID__c":"GARD:0010351","id":10351,"encodedName":"spinocerebellar-ataxia-type-6","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia type 6","Xref_IDs__c":"715752006; C0752124; C142838; DOID:0050956; MEDGEN:148458; MONDO:0008457; NBK1140; OMIM:183086; ORPHA:98758","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008457","Disease_Description__c":"An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.","GARD_Name__c":"Spinocerebellar ataxia type 6","GARD_Synonym__c":"autosomal dominant cerebellar ataxia type iii caused by mutation in cacna1a; cacna1a autosomal dominant cerebellar ataxia type iii; sca6","Curated_Disease_Description_Source__c":"GARD:0010351","Curated_Disease_Description__c":"Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia). Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood. People with this disorder may require walking or mobility assistance later in life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:98758","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008457","ORPHANET_ID__c":"ORPHA:98758","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa tipo 6","Spanish_Description_Source__c":"ORPHA:98758","Spanish_Description__c":"Es una ataxia cerebelosa autosómica dominante de tipo III caracterizada por marcha atáxica de aparición tardía y progresión lenta acompañada de otros signos cerebelosos tales como alteración de la coordinación muscular y nistagmo.","Spanish_Disease_Name__c":"ataxia espinocerebelosa tipo 6","Spanish_GARD_Synonym__c":"sca6","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 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia). Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood. People with this disorder may require walking or mobility assistance later in life.","Curated_Disease_Description_Source__c":"GARD:0010351","GARD_Synonym__c":"autosomal dominant cerebellar ataxia type iii caused by mutation in cacna1a; cacna1a autosomal dominant cerebellar ataxia type iii; sca6","Name":"Spinocerebellar ataxia type 6","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CACNA1A Foundation","Website__c":"https://www.cacna1a.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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:98758"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98758"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:98758"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0752124"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010351","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1140","Source__c":"Gene Review","Xref__c":"NBK1140"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1138","Xref__c":"NBK1138"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0752124","Source__c":"C0752124","Xref__c":"C0752124"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050956","Source__c":"MONDO:0008457","Xref__c":"DOID:0050956"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715752006","Source__c":"C0752124; MONDO:0008457","Xref__c":"715752006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C142838","Source__c":"C0752124; MONDO:0008457","Xref__c":"C142838"},{"URL__c":"https://www.orpha.net/en/disease/detail/98758","Source__c":"C0752124; MONDO:0008457; ORPHA:98758","Xref__c":"ORPHA:98758"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=148458","Source__c":"C0752124","Xref__c":"MEDGEN:148458"},{"URL__c":"https://www.omim.org/entry/183086","Source__c":"C0752124; MONDO:0008457; ORPHA:98758","Xref__c":"OMIM:183086"},{"URL__c":"https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-6","Source__c":"GARD:0010351","Xref__c":"https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-6"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008457","Source__c":"GARD:0010351","Xref__c":"MONDO:0008457"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CACNA1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cacna1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Horizontal nystagmus made apparent by looking to the right or to the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007979","HPO_Synonym__c":"Nystagmus, horizontal, gaze-evoked","HPO_Name__c":"Gaze-evoked horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty in seeing moving objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030511","HPO_Synonym__c":"Difficulty seeing moving objects","HPO_Name__c":"Bradyopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","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:98758","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030842","HPO_Name__c":"Choking episodes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Occasional (5-29%)","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:98758","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Occasional (5-29%)","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:98758","HPO_Frequency__c":"Frequent (30-79%)","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:98758","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002311","HPO_Synonym__c":"Difficulties in coordination; Incoordination; Incoordination of limb movements; Limb incoordination; Poor coordination; Poor motor coordination","HPO_Name__c":"Incoordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Occasional (5-29%)","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:98758","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002080","HPO_Name__c":"Intention tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98758","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","Pediatrics"],"Account":["Ataxia"]},"synonyms":["autosomal dominant cerebellar ataxia type iii caused by mutation in cacna1a"," cacna1a autosomal dominant cerebellar ataxia type iii"," sca6"]}