{"Name":"Episodic ataxia type 3","DiseaseID__c":"GARD:0016702","id":16702,"encodedName":"episodic-ataxia-type-3","IsDeleted":false,"Disease_Name_Full__c":"Episodic ataxia type 3","Xref_IDs__c":"718755009; C1847839; C564697; DOID:0050991; MEDGEN:376220; MONDO:0011682; OMIM:606554; ORPHA:79135","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011682","Disease_Description__c":"A rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.","GARD_Name__c":"Episodic ataxia type 3","GARD_Synonym__c":"ataxia, episodic, with vertigo and tinnitus; episodic ataxia and vertigo with tinnitus and myokymia syndrome; episodic ataxia-vertigo-tinnitus-myokymia syndrome","Curated_Disease_Description_Source__c":"ORPHA:79135","Curated_Disease_Description__c":"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.","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:79135","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011682","ORPHANET_ID__c":"ORPHA:79135","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia episódica tipo 3","Spanish_Description_Source__c":"ORPHA:79135","Spanish_Description__c":"La ataxia episódica tipo 3 (EA3) es una forma muy poco frecuente de ataxia episódica hereditaria (consulte este término) caracterizada por ataxia vestibular, vértigo, tinnitus y mioquimia interictal.","Spanish_Disease_Name__c":"ataxia episódica tipo 3","Spanish_GARD_Synonym__c":"ataxia episódica-vértigo-tinnitus-mioquimia","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":"Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.","Curated_Disease_Description_Source__c":"ORPHA:79135","GARD_Synonym__c":"ataxia, episodic, with vertigo and tinnitus; episodic ataxia and vertigo with tinnitus and myokymia syndrome; episodic ataxia-vertigo-tinnitus-myokymia syndrome","Name":"Episodic ataxia type 3","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.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":"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:79135"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050991","Source__c":"MONDO:0011682","Xref__c":"DOID:0050991"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718755009","Source__c":"C1847839; MONDO:0011682","Xref__c":"718755009"},{"URL__c":"https://www.orpha.net/en/disease/detail/79135","Source__c":"C1847839; MONDO:0011682; ORPHA:79135","Xref__c":"ORPHA:79135"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564697","Source__c":"MONDO:0011682","Xref__c":"C564697"},{"URL__c":"https://www.omim.org/entry/606554","Source__c":"C1847839; MONDO:0011682; ORPHA:79135","Xref__c":"OMIM:606554"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847839","Source__c":"C1847839","Xref__c":"C1847839"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376220","Source__c":"C1847839","Xref__c":"MEDGEN:376220"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011682","Source__c":"GARD:0016702","Xref__c":"MONDO:0011682"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79135","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002131","HPO_Synonym__c":"Intermittent cerebellar ataxia; Paroxysmal ataxia","HPO_Name__c":"Episodic ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79135","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79135","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002411","HPO_Name__c":"Myokymia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79135","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; Ringing in the ears","HPO_Name__c":"Tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79135","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002301","HPO_Synonym__c":"Paralysis on one side of body","HPO_Name__c":"Hemiplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79135","HPO_Frequency__c":"Occasional (5-29%)","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:79135","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Ataxia"]},"synonyms":["ataxia, episodic, with vertigo and tinnitus"," episodic ataxia and vertigo with tinnitus and myokymia syndrome"," episodic ataxia-vertigo-tinnitus-myokymia syndrome"]}