{"Name":"Torsion dystonia 6","DiseaseID__c":"GARD:0009630","id":9630,"encodedName":"torsion-dystonia-6","IsDeleted":false,"Disease_Name_Full__c":"Torsion dystonia 6","Xref_IDs__c":"702448007; C1414216; C156361; C538003; DOID:0090039; MEDGEN:236274; MONDO:0011264; OMIM:602629; ORPHA:98806","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0011264","Disease_Description__c":"A rare genetic movement disorder characterized by dystonia affecting at first an upper limb, less frequently beginning in the head and neck region, before slowly spreading to other locations. The clinical spectrum, like age of onset, is variable with focal, segmental, or generalized distribution, but cranial involvement with speech difficulties and cervical involvement are typical, whereas lower limbs are often spared. With progression of the disease, many patients suffer from generalized dystonia while mostly remaining ambulatory.","GARD_Name__c":"Torsion dystonia 6","GARD_Synonym__c":"dystonia 6; dyt-thap1; dyt6; generalised cervical and upper-limb-onset dystonia; generalised isolated dystonia caused by mutation in thap1; generalized cervical and upper-limb-onset dystonia; generalized isolated dystonia caused by mutation in thap1; idiopathic torsion dystonia of mixed type; primary dystonia, dyt6 type; thap1 dystonia; thap1 generalised isolated dystonia; thap1 generalized isolated dystonia; torsion dystonia type 6","Curated_Disease_Description_Source__c":"MONDO:0011264","Curated_Disease_Description__c":"Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 6 can appear at any age from childhood through adulthood; the average age of onset is 18. The signs and symptoms of dystonia 6 vary among affected individuals. The disorder usually first impacts muscles of the head and neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of one or more limbs is common, and in some cases occurs before the head and neck problems. Dystonia 6 gradually gets worse, and it may eventually involve most of the body.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:98806","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011264","ORPHANET_ID__c":"ORPHA:98806","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía primaria tipo dyt6","Spanish_Description_Source__c":"ORPHA:98806","Spanish_Description__c":"Es un trastorno genético poco frecuente del movimiento caracterizado por distonía que afecta inicialmente a una extremidad superior y, con menor frecuencia, a la región de la cabeza y del cuello, antes de extenderse lentamente a otras localizaciones. Tanto el espectro clínico como la edad de aparición son variables, con una distribución focal, segmentaria o generalizada, aunque la afectación craneal con dificultades del habla y la afectación cervical son habituales, mientras que las extremidades inferiores suelen estar preservadas. Con la progresión de la enfermedad, muchos pacientes sufren de distonía generalizada mientras permanecen en su mayoría ambulatorios.","Spanish_Disease_Name__c":"distonía primaria tipo dyt6","Spanish_GARD_Synonym__c":"distonía de torsión idiopática tipo mixto; distonía generalizada de aparición cervical y en extremidades superiores; dyt6","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":"Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 6 can appear at any age from childhood through adulthood; the average age of onset is 18. The signs and symptoms of dystonia 6 vary among affected individuals. The disorder usually first impacts muscles of the head and neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of one or more limbs is common, and in some cases occurs before the head and neck problems. Dystonia 6 gradually gets worse, and it may eventually involve most of the body.","Curated_Disease_Description_Source__c":"MONDO:0011264","GARD_Synonym__c":"dystonia 6; dyt-thap1; dyt6; generalised cervical and upper-limb-onset dystonia; generalised isolated dystonia caused by mutation in thap1; generalized cervical and upper-limb-onset dystonia; generalized isolated dystonia caused by mutation in thap1; idiopathic torsion dystonia of mixed type; primary dystonia, dyt6 type; thap1 dystonia; thap1 generalised isolated dystonia; thap1 generalized isolated dystonia; torsion dystonia type 6","Name":"Torsion dystonia 6","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:98806"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98806"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98806"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1414216"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009630","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702448007","Source__c":"C1414216; MONDO:0011264","Xref__c":"702448007"},{"URL__c":"https://www.orpha.net/en/disease/detail/98806","Source__c":"C1414216; MONDO:0011264; ORPHA:98806","Xref__c":"ORPHA:98806"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090039","Source__c":"MONDO:0011264","Xref__c":"DOID:0090039"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=236274","Source__c":"C1414216","Xref__c":"MEDGEN:236274"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1414216","Source__c":"C1414216","Xref__c":"C1414216"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538003","Source__c":"MONDO:0011264","Xref__c":"C538003"},{"URL__c":"https://www.omim.org/entry/602629","Source__c":"C1414216; MONDO:0011264; ORPHA:98806","Xref__c":"OMIM:602629"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C156361","Source__c":"C1414216; MONDO:0011264","Xref__c":"C156361"},{"URL__c":"https://medlineplus.gov/genetics/condition/dystonia-6","Source__c":"GARD:0009630","Xref__c":"https://medlineplus.gov/genetics/condition/dystonia-6"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011264","Source__c":"GARD:0009630","Xref__c":"MONDO:0011264"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"THAP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/thap1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98806","HPO_Frequency__c":"Occasional (5-29%)","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:98806","HPO_Frequency__c":"Uncommon (<1-4%)","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:98806","HPO_Frequency__c":"Occasional (5-29%)","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:98806","HPO_Frequency__c":"Occasional (5-29%)","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:98806","HPO_Frequency__c":"Occasional (5-29%)","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:98806","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98806","HPO_Frequency__c":"Occasional (5-29%)","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:98806","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:98806","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Dystonia"]},"synonyms":["dystonia 6"," dyt-thap1"," dyt6"," generalised cervical and upper-limb-onset dystonia"," generalised isolated dystonia caused by mutation in thap1"," generalized cervical and upper-limb-onset dystonia"," generalized isolated dystonia caused by mutation in thap1"," idiopathic torsion dystonia of mixed type"," primary dystonia, dyt6 type"," thap1 dystonia"," thap1 generalised isolated dystonia"," thap1 generalized isolated dystonia"," torsion dystonia type 6"]}