{"Name":"Dystonia 27","DiseaseID__c":"GARD:0017819","id":17819,"encodedName":"dystonia-27","IsDeleted":false,"Disease_Name_Full__c":"Dystonia 27","Xref_IDs__c":"C4225336; DOID:0090050; MEDGEN:907580; MONDO:0014627; OMIM:616411; ORPHA:464440","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":2,"Description_Source__c":"MONDO:0014627","Disease_Description__c":"Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.","GARD_Name__c":"Dystonia 27","GARD_Synonym__c":"col6a3 dystonic disorder; dystonia type 27; dystonic disorder caused by mutation in col6a3; dyt27; primary dystonia dyt27 type; primary dystonia type 27; primary dystonia, dyt27 type","Curated_Disease_Description_Source__c":"ORPHA:464440","Curated_Disease_Description__c":"A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as an Adult","SourceID__c":"ORPHA:464440","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014627","ORPHANET_ID__c":"ORPHA:464440","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía primaria tipo dyt27","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distonía primaria tipo dyt27","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":"A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"ORPHA:464440","GARD_Synonym__c":"col6a3 dystonic disorder; dystonia type 27; dystonic disorder caused by mutation in col6a3; dyt27; primary dystonia dyt27 type; primary dystonia type 27; primary dystonia, dyt27 type","Name":"Dystonia 27","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":"Childhood","Provided_By__c":"ORPHA:464440"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:464440"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=907580","Source__c":"C4225336","Xref__c":"MEDGEN:907580"},{"URL__c":"https://www.omim.org/entry/616411","Source__c":"C4225336; MONDO:0014627; ORPHA:464440","Xref__c":"OMIM:616411"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225336","Source__c":"C4225336","Xref__c":"C4225336"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090050","Source__c":"MONDO:0014627","Xref__c":"DOID:0090050"},{"URL__c":"https://www.orpha.net/en/disease/detail/464440","Source__c":"C4225336; MONDO:0014627; ORPHA:464440","Xref__c":"ORPHA:464440"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1220573009","Source__c":"C4225336","Xref__c":"1220573009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014627","Source__c":"GARD:0017819","Xref__c":"MONDO:0014627"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL6A3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col6a3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:464440","HPO_Frequency__c":"Frequent (30-79%)","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:464440","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002356","HPO_Synonym__c":"Writer's cramp","HPO_Name__c":"Writer's cramp","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464440","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of tremors that is triggered by holding an arm in a fixed position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007351","HPO_Synonym__c":"Postural tremor of arms","HPO_Name__c":"Upper limb postural tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464440","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002345","HPO_Name__c":"Action tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464440","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:464440","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:464440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012048","HPO_Synonym__c":"Cranial dystonia","HPO_Name__c":"Oromandibular dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:464440","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Dystonia"]},"synonyms":["col6a3 dystonic disorder"," dystonia type 27"," dystonic disorder caused by mutation in col6a3"," dyt27"," primary dystonia dyt27 type"," primary dystonia type 27"," primary dystonia, dyt27 type"]}