{"Name":"Spastic ataxia 7","DiseaseID__c":"GARD:0016560","id":16560,"encodedName":"spastic-ataxia-7","IsDeleted":false,"Disease_Name_Full__c":"Spastic ataxia 7","Xref_IDs__c":"763669001; C1862441; C566247; DOID:0050945; MEDGEN:354750; MONDO:0007165; OMIM:108650; ORPHA:1182","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0007165","Disease_Description__c":"Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.","GARD_Name__c":"Spastic ataxia 7","GARD_Synonym__c":"autosomal dominant spastic ataxia type 7; spastic ataxia 7, autosomal dominant; spastic ataxia type 7; spastic ataxia with congenital miosis; spax7","Curated_Disease_Description_Source__c":"MONDO:0007165","Curated_Disease_Description__c":"Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.","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:1182","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007165","ORPHANET_ID__c":"ORPHA:1182","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espástica con miosis congénita","Spanish_Description_Source__c":"ORPHA:1182","Spanish_Description__c":"La ataxia espástica con miosis congénita es una ataxia hereditaria rara caracterizada por una ataxia de la marcha simétrica aparentemente no progresiva o lentamente progresiva, con signos piramidales en las extremidades, espasticidad e hiperreflexia (especialmente en las extremidades inferiores) junto con disartria y reacción pupilar a la luz patológica presentándose como miosis fija (con pupilas que raramente exceden los 2 mm de diámetro y se dilatan débilmente con midriáticos). El nistagmus también puede estar presente","Spanish_Disease_Name__c":"ataxia espástica con miosis congénita","Spanish_GARD_Synonym__c":"ataxia espástica autosómica dominante tipo 7; spax7","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":"Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.","Curated_Disease_Description_Source__c":"MONDO:0007165","GARD_Synonym__c":"autosomal dominant spastic ataxia type 7; spastic ataxia 7, autosomal dominant; spastic ataxia type 7; spastic ataxia with congenital miosis; spax7","Name":"Spastic ataxia 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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1182"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1182"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:1182"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1182"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=354750","Source__c":"C1862441","Xref__c":"MEDGEN:354750"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566247","Source__c":"MONDO:0007165","Xref__c":"C566247"},{"URL__c":"https://www.omim.org/entry/108650","Source__c":"C1862441; MONDO:0007165; ORPHA:1182","Xref__c":"OMIM:108650"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763669001","Source__c":"C1862441; MONDO:0007165","Xref__c":"763669001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050945","Source__c":"MONDO:0007165","Xref__c":"DOID:0050945"},{"URL__c":"https://www.orpha.net/en/disease/detail/1182","Source__c":"C1862441; MONDO:0007165; ORPHA:1182","Xref__c":"ORPHA:1182"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862441","Source__c":"C1862441","Xref__c":"C1862441"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007165","Source__c":"GARD:0016560","Xref__c":"MONDO:0007165"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1182","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:1182","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:1182","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"}},{"Provided_By__c":"ORPHA:1182","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal (non-physiological) constriction of the pupil of congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007728","HPO_Name__c":"Congenital miosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1182","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:1182","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1182","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002497","HPO_Name__c":"Spastic ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1182","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Anterior segment of Eye","Pediatrics"],"Account":["Ataxia"]},"synonyms":["autosomal dominant spastic ataxia type 7"," spastic ataxia 7, autosomal dominant"," spastic ataxia type 7"," spastic ataxia with congenital miosis"," spax7"]}