{"Name":"Torsion dystonia 2","DiseaseID__c":"GARD:0002028","id":2028,"encodedName":"torsion-dystonia-2","IsDeleted":false,"Disease_Name_Full__c":"Torsion dystonia 2","Xref_IDs__c":"C123415; C1857093; C538006; DOID:0090038; MEDGEN:346511; MONDO:0009141; OMIM:224500; ORPHA:99657","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009141","Disease_Description__c":"A rare isolated dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.","GARD_Name__c":"Torsion dystonia 2","GARD_Synonym__c":"autosomal recessive torsion dystonia 2; dystonic disorder caused by mutation in hpca; dyt2; hpca dystonic disorder; primary dystonia dyt2 type; primary dystonia type 2; primary dystonia, dyt2 type; torsion dystonia type 2","Curated_Disease_Description_Source__c":"MONDO:0009141","Curated_Disease_Description__c":"A rare isolated dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:99657","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009141","ORPHANET_ID__c":"ORPHA:99657","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía primaria tipo dyt2","Spanish_Description_Source__c":"ORPHA:99657","Spanish_Description__c":"Es una distonía aislada poco frecuente caracterizada por una distonía segmentaria que afecta principalmente a las extremidades distales y conduce a una postura anómala. Esta enfermedad tiene un curso clínico progresivo y puede convertirse en una distonía generalizada pero, por lo general, sigue siendo leve.","Spanish_Disease_Name__c":"distonía primaria tipo dyt2","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 isolated dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.","Curated_Disease_Description_Source__c":"MONDO:0009141","GARD_Synonym__c":"autosomal recessive torsion dystonia 2; dystonic disorder caused by mutation in hpca; dyt2; hpca dystonic disorder; primary dystonia dyt2 type; primary dystonia type 2; primary dystonia, dyt2 type; torsion dystonia type 2","Name":"Torsion dystonia 2","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":"Childhood","Provided_By__c":"ORPHA:99657"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1857093"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002028","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538006","Source__c":"MONDO:0009141","Xref__c":"C538006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346511","Source__c":"C1857093","Xref__c":"MEDGEN:346511"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123415","Source__c":"C1857093; MONDO:0009141","Xref__c":"C123415"},{"URL__c":"https://www.omim.org/entry/224500","Source__c":"C1857093; MONDO:0009141; ORPHA:99657","Xref__c":"OMIM:224500"},{"URL__c":"https://www.orpha.net/en/disease/detail/99657","Source__c":"C1857093; MONDO:0009141; ORPHA:99657","Xref__c":"ORPHA:99657"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090038","Source__c":"MONDO:0009141","Xref__c":"DOID:0090038"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857093","Source__c":"C1857093","Xref__c":"C1857093"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009141","Source__c":"GARD:0002028","Xref__c":"MONDO:0009141"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715777007","Source__c":"C1857093","Xref__c":"715777007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HPCA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99657","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:99657","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99657","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:99657","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004305","HPO_Synonym__c":"Involuntary movements; Involuntary muscle contractions","HPO_Name__c":"Involuntary movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99657","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001304","HPO_Synonym__c":"Dystonia musculorum deformans","HPO_Name__c":"Torsion dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99657","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:99657","HPO_Frequency__c":"Frequent (30-79%)","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:99657","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99657","HPO_Frequency__c":"Occasional (5-29%)","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:99657","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","Pediatrics"],"Account":["Dystonia"]},"synonyms":["autosomal recessive torsion dystonia 2"," dystonic disorder caused by mutation in hpca"," dyt2"," hpca dystonic disorder"," primary dystonia dyt2 type"," primary dystonia type 2"," primary dystonia, dyt2 type"," torsion dystonia type 2"]}