{"Name":"Early-onset generalized limb-onset dystonia","DiseaseID__c":"GARD:0002027","id":2027,"encodedName":"early-onset-generalized-limb-onset-dystonia","IsDeleted":false,"Disease_Name_Full__c":"Early-onset generalized limb-onset dystonia","Xref_IDs__c":"C116718; C118780; C1851945; C538005; DOID:0060730; MEDGEN:338823; MONDO:0007492; OMIM:128100; ORPHA:256","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007492","Disease_Description__c":"A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.","GARD_Name__c":"Early-onset generalized limb-onset dystonia","GARD_Synonym__c":"dystonia 1, modifier of; dystonia 1, torsion, autosomal dominant; dystonia musculorum deformans; dystonia musculorum deformans 1; dystonia-1, torsion; dyt-tor1a; dyt1; dyt1 early-onset primary dystonia; early onset primary dystonia; early onset torsion dystonia; early-onset generalised torsion dystonia; early-onset generalized torsion dystonia; early-onset isolated dystonia; early-onset primary dystonia; early-onset primary dystonia (dyt1); early-onset torsion dystonia; eotd; idiopathic dystonia; oppenheim dystonia; oppenheim's dystonia; torsion dystonia type 1","Curated_Disease_Description_Source__c":"GARD:0002027","Curated_Disease_Description__c":"Early-onset isolated dystonia is one of many forms of dystonia, which is a group of conditions characterized by involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. An isolated dystonia is one that occurs without other abnormal movements or other neurological symptoms, such as seizures, a loss of intellectual function, or developmental or intellectual delay. Early-onset isolated dystonia does not affect a persons intelligence.  The signs and symptoms of early-onset isolated dystonia tend to occur in mid-childhood or adolescence. Abnormal muscle spasms in an arm or a leg are usually the first sign. These unusual movements initially occur while a person is doing a specific action, such as writing or  walking. In some affected people, dystonia later spreads to other parts of the body and the movements may become persistent and present when at rest and not doing an activity. The abnormal movements persist throughout life, but they do not usually cause pain. The signs and symptoms of early-onset isolated dystonia vary from person to person, even among affected members of the same family.  The mildest cases affect only a single part of the body, causing isolated problems such as abnormal posture and spasms of the hand while attempting to write (writers cramp). Severe cases involve abnormal movements affecting many parts of the body.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:256","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007492","ORPHANET_ID__c":"ORPHA:256","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía generalizada de las extremidades de inicio precoz","Spanish_Description_Source__c":"ORPHA:256","Spanish_Description__c":"Es un trastorno poco frecuente del movimiento caracterizado por posturas o contracciones musculares involuntarias, repetitivas y sostenidas, que comienza típicamente en una sola extremidad y en la mayoría de los individuos afectos se extiende progresivamente hasta afectar al resto de las extremidades y al tronco respetando, por lo general, la región craneal y cervical.","Spanish_Disease_Name__c":"distonía generalizada de las extremidades de inicio precoz","Spanish_GARD_Synonym__c":"distonía aislada de inicio precoz; distonía de oppenheim; distonía de torsión de inicio precoz; distonía de torsión generalizada de inicio precoz; distonía de torsión idiopática; distonía muscular deformante; distonía primaria de inicio precoz","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":"Early-onset isolated dystonia is one of many forms of dystonia, which is a group of conditions characterized by involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. An isolated dystonia is one that occurs without other abnormal movements or other neurological symptoms, such as seizures, a loss of intellectual function, or developmental or intellectual delay. Early-onset isolated dystonia does not affect a persons intelligence.  The signs and symptoms of early-onset isolated dystonia tend to occur in mid-childhood or adolescence. Abnormal muscle spasms in an arm or a leg are usually the first sign. These unusual movements initially occur while a person is doing a specific action, such as writing or  walking. In some affected people, dystonia later spreads to other parts of the body and the movements may become persistent and present when at rest and not doing an activity. The abnormal movements persist throughout life, but they do not usually cause pain. The signs and symptoms of early-onset isolated dystonia vary from person to person, even among affected members of the same family.  The mildest cases affect only a single part of the body, causing isolated problems such as abnormal posture and spasms of the hand while attempting to write (writers cramp). Severe cases involve abnormal movements affecting many parts of the body.","Curated_Disease_Description_Source__c":"GARD:0002027","GARD_Synonym__c":"dystonia 1, modifier of; dystonia 1, torsion, autosomal dominant; dystonia musculorum deformans; dystonia musculorum deformans 1; dystonia-1, torsion; dyt-tor1a; dyt1; dyt1 early-onset primary dystonia; early onset primary dystonia; early onset torsion dystonia; early-onset generalised torsion dystonia; early-onset generalized torsion dystonia; early-onset isolated dystonia; early-onset primary dystonia; early-onset primary dystonia (dyt1); early-onset torsion dystonia; eotd; idiopathic dystonia; oppenheim dystonia; oppenheim's dystonia; torsion dystonia type 1","Name":"Early-onset generalized limb-onset dystonia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Ireland","Website__c":"https://www.dystonia.ie/"},{"Account_Name__c":"Dystonia Network of Australia","Website__c":"https://dystonia.org.au/"},{"Account_Name__c":"Dystonia Medical Research Foundation Canada","Website__c":"https://dystoniacanada.org/"},{"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":"Childhood","Provided_By__c":"ORPHA:256"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:256"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:256"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0013423"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3888090"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002027","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1492","Source__c":"Gene Review","Xref__c":"NBK1492"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851945","Source__c":"C1851945","Xref__c":"C1851945"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116718","Source__c":"MONDO:0007492","Xref__c":"C116718"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060730","Source__c":"MONDO:0007492","Xref__c":"DOID:0060730"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538005","Source__c":"MONDO:0007492","Xref__c":"C538005"},{"URL__c":"https://www.omim.org/entry/128100","Source__c":"C1851945; MONDO:0007492","Xref__c":"OMIM:128100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338823","Source__c":"C1851945","Xref__c":"MEDGEN:338823"},{"URL__c":"https://www.orpha.net/en/disease/detail/256","Source__c":"C1851945; MONDO:0007492","Xref__c":"ORPHA:256"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118780","Source__c":"C1851945","Xref__c":"C118780"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007492","Source__c":"GARD:0002027","Xref__c":"MONDO:0007492"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TOR1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tor1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:256","HPO_Frequency__c":"Very frequent (80-99%)","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:256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:256","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001608","HPO_Synonym__c":"Abnormality of the voice; Voice abnormality","HPO_Name__c":"Abnormality of the voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:256","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality originating in one or more muscles, i.e., of the set of muscles of body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003011","HPO_Synonym__c":"Muscular abnormality","HPO_Name__c":"Abnormality of the musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Dystonia"]},"synonyms":["dystonia 1, modifier of"," dystonia 1, torsion, autosomal dominant"," dystonia musculorum deformans"," dystonia musculorum deformans 1"," dystonia-1, torsion"," dyt-tor1a"," dyt1"," dyt1 early-onset primary dystonia"," early onset primary dystonia"," early onset torsion dystonia"," early-onset generalised torsion dystonia"," early-onset generalized torsion dystonia"," early-onset isolated dystonia"," early-onset primary dystonia"," early-onset primary dystonia (dyt1)"," early-onset torsion dystonia"," eotd"," idiopathic dystonia"," oppenheim dystonia"," oppenheim's dystonia"," torsion dystonia type 1"]}