{"Name":"Dystonia 24","DiseaseID__c":"GARD:0017693","id":17693,"encodedName":"dystonia-24","IsDeleted":false,"Disease_Name_Full__c":"Dystonia 24","Xref_IDs__c":"C3554374; DOID:0090052; MEDGEN:767288; MONDO:0014019; OMIM:615034; ORPHA:420485","USA_Estimate__c":null,"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":null,"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":3,"Description_Source__c":"MONDO:0014019","Disease_Description__c":"Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.","GARD_Name__c":"Dystonia 24","GARD_Synonym__c":"ano3 dystonic disorder; cranio-cervical dystonia with laryngeal and upper limb involvement; cranio-cervical dystonia with laryngeal and upper-limb involvement; dystonia type 24; dystonic disorder caused by mutation in ano3; dyt-ano3; dyt24; dyt24 - dystonia 24","Curated_Disease_Description_Source__c":"ORPHA:420485","Curated_Disease_Description__c":"Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:420485","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014019","ORPHANET_ID__c":"ORPHA:420485","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía craneocervical con afectación laríngea y de las extremidades superiores","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distonía craneocervical con afectación laríngea y de las extremidades superiores","Spanish_GARD_Synonym__c":"distonía 24; dyt24","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":"Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.","Curated_Disease_Description_Source__c":"ORPHA:420485","GARD_Synonym__c":"ano3 dystonic disorder; cranio-cervical dystonia with laryngeal and upper limb involvement; cranio-cervical dystonia with laryngeal and upper-limb involvement; dystonia type 24; dystonic disorder caused by mutation in ano3; dyt-ano3; dyt24; dyt24 - dystonia 24","Name":"Dystonia 24","estimateUsa":""}],"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":"Adult","Provided_By__c":"ORPHA:420485"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:420485"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:420485"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090052","Source__c":"MONDO:0014019","Xref__c":"DOID:0090052"},{"URL__c":"https://www.orpha.net/en/disease/detail/420485","Source__c":"C3554374; MONDO:0014019; ORPHA:420485","Xref__c":"ORPHA:420485"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767288","Source__c":"C3554374","Xref__c":"MEDGEN:767288"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554374","Source__c":"C3554374","Xref__c":"C3554374"},{"URL__c":"https://www.omim.org/entry/615034","Source__c":"C3554374; MONDO:0014019; ORPHA:420485","Xref__c":"OMIM:615034"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783179009","Source__c":"C3554374","Xref__c":"783179009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014019","Source__c":"GARD:0017693","Xref__c":"MONDO:0014019"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ANO3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:420485","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:420485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the larynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001600","HPO_Synonym__c":"Laryngeal abnormalities; Laryngeal anomalies","HPO_Name__c":"Abnormality of the larynx","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420485","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:420485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000643","HPO_Synonym__c":"Eyelid spasm; Eyelid twitching; Involuntary closure of eyelid; Spontaneous closure of eyelid","HPO_Name__c":"Blepharospasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420485","HPO_Frequency__c":"Occasional (5-29%)","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:420485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002378","HPO_Synonym__c":"Hand tremor; Tremor of hand; Tremor of hands; tremors in hands","HPO_Name__c":"Hand tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420485","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420485","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012477","HPO_Synonym__c":"Shakey voice; Vocal tremor","HPO_Name__c":"Vocal tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420485","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Dystonia"]},"synonyms":["ano3 dystonic disorder"," cranio-cervical dystonia with laryngeal and upper limb involvement"," cranio-cervical dystonia with laryngeal and upper-limb involvement"," dystonia type 24"," dystonic disorder caused by mutation in ano3"," dyt-ano3"," dyt24"," dyt24 - dystonia 24"]}