{"Name":"Episodic ataxia type 7","DiseaseID__c":"GARD:0017108","id":17108,"encodedName":"episodic-ataxia-type-7","IsDeleted":false,"Disease_Name_Full__c":"Episodic ataxia type 7","Xref_IDs__c":"718752007; C2677843; C567459; DOID:0050995; MEDGEN:383209; MONDO:0012755; OMIM:611907; ORPHA:209970","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012755","Disease_Description__c":"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.","GARD_Name__c":"Episodic ataxia type 7","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:209970","Curated_Disease_Description__c":"Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:209970","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012755","ORPHANET_ID__c":"ORPHA:209970","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia episódica tipo 7","Spanish_Description_Source__c":"ORPHA:209970","Spanish_Description__c":"Es una forma extremadamente infrecuente de ataxia episódica hereditaria caracterizada por ataxia con debilidad, vértigo y disartria sin signos interictales.","Spanish_Disease_Name__c":"ataxia episódica tipo 7","Spanish_GARD_Synonym__c":null,"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 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.","Curated_Disease_Description_Source__c":"ORPHA:209970","Name":"Episodic ataxia type 7","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":"Childhood","Provided_By__c":"ORPHA:209970"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718752007","Source__c":"C2677843; MONDO:0012755","Xref__c":"718752007"},{"URL__c":"https://www.omim.org/entry/611907","Source__c":"C2677843; MONDO:0012755; ORPHA:209970","Xref__c":"OMIM:611907"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2677843","Source__c":"C2677843","Xref__c":"C2677843"},{"URL__c":"https://www.orpha.net/en/disease/detail/209970","Source__c":"C2677843; MONDO:0012755; ORPHA:209970","Xref__c":"ORPHA:209970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=383209","Source__c":"C2677843","Xref__c":"MEDGEN:383209"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050995","Source__c":"MONDO:0012755","Xref__c":"DOID:0050995"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567459","Source__c":"MONDO:0012755","Xref__c":"C567459"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012755","Source__c":"GARD:0017108","Xref__c":"MONDO:0012755"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:209970","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209970","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:209970","HPO_Frequency__c":"Very frequent (80-99%)","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:209970","HPO_Frequency__c":"Occasional (5-29%)","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:209970","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209970","HPO_Frequency__c":"Occasional (5-29%)","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:209970","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Motor hyperactivity with excessive movement of muscles of the body as a whole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002487","HPO_Synonym__c":"Hyperactive movements; Hyperkinesia; Hyperkinesis","HPO_Name__c":"Hyperkinetic movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209970","HPO_Frequency__c":"Frequent (30-79%)","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:209970","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209970","HPO_Frequency__c":"Occasional (5-29%)","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:209970","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Ataxia"]},"synonyms":[""]}