{"Name":"Dystonia 25","DiseaseID__c":"GARD:0010667","id":10667,"encodedName":"dystonia-25","IsDeleted":false,"Disease_Name_Full__c":"Dystonia 25","Xref_IDs__c":"C4304670; DOID:0090055; MEDGEN:930339; MONDO:0014033; OMIM:615073; ORPHA:329466","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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:0014033","Disease_Description__c":"A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.","GARD_Name__c":"Dystonia 25","GARD_Synonym__c":"autosomal dominant focal dystonia dyt25 type; autosomal dominant focal dystonia, dyt25 type; dystonia type 25; dystonic disorder caused by mutation in gnal; dyt25; gnal dystonic disorder","Curated_Disease_Description_Source__c":"MEDGEN:C4023011","Curated_Disease_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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:329466","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014033","ORPHANET_ID__c":"ORPHA:329466","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía focal autosómica dominante tipo dyt25","Spanish_Description_Source__c":"ORPHA:329466","Spanish_Description__c":"Es una forma de distonía focal caracterizada por distonía cervical, laríngea y de la mano-antebrazo.","Spanish_Disease_Name__c":"distonía focal autosómica dominante tipo dyt25","Spanish_GARD_Synonym__c":"distonía dyt25; dyt25","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":"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.","Curated_Disease_Description_Source__c":"MEDGEN:C4023011","GARD_Synonym__c":"autosomal dominant focal dystonia dyt25 type; autosomal dominant focal dystonia, dyt25 type; dystonia type 25; dystonic disorder caused by mutation in gnal; dyt25; gnal dystonic disorder","Name":"Dystonia 25","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"},{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.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":"Dystonia","Tag_Category__c":"Account","curated_tag_name":"Dystonia"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:329466"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010667","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK535640","Source__c":"Gene Review","Xref__c":"NBK535640"},{"URL__c":"https://www.orpha.net/en/disease/detail/329466","Source__c":"C4304670; MONDO:0014033; ORPHA:329466","Xref__c":"ORPHA:329466"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090055","Source__c":"MONDO:0014033","Xref__c":"DOID:0090055"},{"URL__c":"https://www.omim.org/entry/615073","Source__c":"C4304670; MONDO:0014033; ORPHA:329466","Xref__c":"OMIM:615073"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930339","Source__c":"C4304670","Xref__c":"MEDGEN:930339"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304670","Source__c":"C4304670","Xref__c":"C4304670"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719516000","Source__c":"C4304670","Xref__c":"719516000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014033","Source__c":"GARD:0010667","Xref__c":"MONDO:0014033"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNAL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:329466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002530","HPO_Synonym__c":"Truncal dystonia","HPO_Name__c":"Axial dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Involuntary protrusions, movements, spams and contortions of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031008","HPO_Synonym__c":"Tongue dystonia","HPO_Name__c":"Lingual dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002451","HPO_Name__c":"Limb dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329466","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:329466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of dystonia that is localized to a specific part of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004373","HPO_Name__c":"Focal dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329466","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:329466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012049","HPO_Synonym__c":"Spasmodic dysphonia","HPO_Name__c":"Laryngeal dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology"],"Account":["Dystonia"]},"synonyms":["autosomal dominant focal dystonia dyt25 type"," autosomal dominant focal dystonia, dyt25 type"," dystonia type 25"," dystonic disorder caused by mutation in gnal"," dyt25"," gnal dystonic disorder"]}