{"Name":"Torsion dystonia 17","DiseaseID__c":"GARD:0010536","id":10536,"encodedName":"torsion-dystonia-17","IsDeleted":false,"Disease_Name_Full__c":"Torsion dystonia 17","Xref_IDs__c":"C2676281; C567319; DOID:0090042; MEDGEN:391003; MONDO:0012895; OMIM:612406; ORPHA:370103","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":2,"Description_Source__c":"MONDO:0012895","Disease_Description__c":"A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.","GARD_Name__c":"Torsion dystonia 17","GARD_Synonym__c":"dystonia 17, torsion, autosomal recessive; dystonia-17, primary torsion; primary dystonia, dyt17 type; torsion dystonia type 17","Curated_Disease_Description_Source__c":"ORPHA:370103","Curated_Disease_Description__c":"Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:370103","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012895","ORPHANET_ID__c":"ORPHA:370103","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía primaria tipo dyt17","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distonía primaria tipo dyt17","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":"Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.","Curated_Disease_Description_Source__c":"ORPHA:370103","GARD_Synonym__c":"dystonia 17, torsion, autosomal recessive; dystonia-17, primary torsion; primary dystonia, dyt17 type; torsion dystonia type 17","Name":"Torsion dystonia 17","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"},{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.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":"Dystonia","Tag_Category__c":"Account","curated_tag_name":"Dystonia"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:370103"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:370103"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/370103","Source__c":"C2676281; MONDO:0012895","Xref__c":"ORPHA:370103"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2676281","Source__c":"C2676281","Xref__c":"C2676281"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090042","Source__c":"MONDO:0012895","Xref__c":"DOID:0090042"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567319","Source__c":"MONDO:0012895","Xref__c":"C567319"},{"URL__c":"https://www.omim.org/entry/612406","Source__c":"C2676281; MONDO:0012895; ORPHA:370103","Xref__c":"OMIM:612406"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=391003","Source__c":"C2676281","Xref__c":"MEDGEN:391003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012895","Source__c":"GARD:0010536","Xref__c":"MONDO:0012895"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:370103","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001618","HPO_Synonym__c":"Inability to produce voice sounds; Voice change","HPO_Name__c":"Dysphonia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370103","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:370103","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012179","HPO_Synonym__c":"Abnormal craniofacial muscle tone","HPO_Name__c":"Craniofacial dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370103","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370103","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of dystonia that affects all or most of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007325","HPO_Name__c":"Generalized dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370103","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001300","HPO_Name__c":"Parkinsonism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370103","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Dystonia"]},"synonyms":["dystonia 17, torsion, autosomal recessive"," dystonia-17, primary torsion"," primary dystonia, dyt17 type"," torsion dystonia type 17"]}