{"Name":"Dystonia 23","DiseaseID__c":"GARD:0017694","id":17694,"encodedName":"dystonia-23","IsDeleted":false,"Disease_Name_Full__c":"Dystonia 23","Xref_IDs__c":"C3538999; DOID:0090051; MEDGEN:761274; MONDO:0013928; OMIM:614860; ORPHA:420492","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013928","Disease_Description__c":"Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.","GARD_Name__c":"Dystonia 23","GARD_Synonym__c":"adult-onset cervical dystonia dyt23 type; adult-onset cervical dystonia, dyt23 type; dystonia type 23; dyt23","Curated_Disease_Description_Source__c":"ORPHA:420492","Curated_Disease_Description__c":"A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:420492","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013928","ORPHANET_ID__c":"ORPHA:420492","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía cervical de inicio en el adulto tipo dyt23","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distonía cervical de inicio en el adulto tipo dyt23","Spanish_GARD_Synonym__c":"distonía 23; dyt23","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, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.","Curated_Disease_Description_Source__c":"ORPHA:420492","GARD_Synonym__c":"adult-onset cervical dystonia dyt23 type; adult-onset cervical dystonia, dyt23 type; dystonia type 23; dyt23","Name":"Dystonia 23","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:420492"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3538999","Source__c":"C3538999","Xref__c":"C3538999"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090051","Source__c":"MONDO:0013928","Xref__c":"DOID:0090051"},{"URL__c":"https://www.omim.org/entry/614860","Source__c":"C3538999; MONDO:0013928; ORPHA:420492","Xref__c":"OMIM:614860"},{"URL__c":"https://www.orpha.net/en/disease/detail/420492","Source__c":"C3538999; MONDO:0013928; ORPHA:420492","Xref__c":"ORPHA:420492"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=761274","Source__c":"C3538999","Xref__c":"MEDGEN:761274"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013928","Source__c":"GARD:0017694","Xref__c":"MONDO:0013928"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783242003","Source__c":"C3538999","Xref__c":"783242003"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:420492","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420492","HPO_Frequency__c":"Frequent (30-79%)","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:420492","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting head movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002346","HPO_Synonym__c":"Head tremor","HPO_Name__c":"Head tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420492","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden episode of intense fear in a situation where there is no danger or apparent cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025269","HPO_Synonym__c":"Panic attack","HPO_Name__c":"Panic attack","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420492","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:420492","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:420492","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:420492","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005115","HPO_Synonym__c":"Supraventricular arrhythmias","HPO_Name__c":"Supraventricular arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420492","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:420492","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200085","HPO_Synonym__c":"Involuntary shaking of limb; Limb tremor","HPO_Name__c":"Limb tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420492","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscle hypertrophy affecting the muscles of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012893","HPO_Synonym__c":"Hypertrophy of cervical muscles; Large neck muscles; Overgrowth of neck muscles","HPO_Name__c":"Neck muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420492","HPO_Frequency__c":"Uncommon (<1-4%)","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"}},{"Provided_By__c":"ORPHA:420492","HPO_Frequency__c":"Frequent (30-79%)","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:420492","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420492","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420492","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002883","HPO_Synonym__c":"Rapid breathing","HPO_Name__c":"Hyperventilation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:420492","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology"],"Account":["Dystonia"]},"synonyms":["adult-onset cervical dystonia dyt23 type"," adult-onset cervical dystonia, dyt23 type"," dystonia type 23"," dyt23"]}