{"Name":"Primary orthostatic tremor","DiseaseID__c":"GARD:0008563","id":8563,"encodedName":"primary-orthostatic-tremor","IsDeleted":false,"Disease_Name_Full__c":"Primary orthostatic tremor","Xref_IDs__c":"715902009; C0878578; C536418; MEDGEN:164206; MONDO:0016546; ORPHA:238606","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016546","Disease_Description__c":"A rare tremor disorder characterized by an isolated high frequency (>12Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing.","GARD_Name__c":"Primary orthostatic tremor","GARD_Synonym__c":"pot; pot - primary orthostatic tremor","Curated_Disease_Description_Source__c":"GARD:0008563","Curated_Disease_Description__c":"Primary orthostatic tremor is a rare, progressive movement disorder that causes unsteadiness when standing still, due to a rapid tremor affecting the legs and trunk. The tremor is sometimes described as having 'shaky legs,' and it improves or disappears when walking, sitting, or lying down. This may cause people with Primary orthostatic tremor to attempt to sit again or walk immediately after standing, for fear of falling. People with POT may also experience tiredness, physical exhaustion, muscle stiffness or weakness, and/or pain. The diagnosis of POT relies on a clinical exam as well as a specialized test called a surface electromyogram (EMG), which measures electrical activity in the muscles. The cause of POT is not completely understood, but the disorder is thought to involve dysfunction of the brain's ability to regulate nerve signals that control muscle activity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:238606","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016546","ORPHANET_ID__c":"ORPHA:238606","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Temblor ortostático primario","Spanish_Description_Source__c":"ORPHA:238606","Spanish_Description__c":"Es un trastorno tremórico poco frecuente caracterizado por un temblor aislado de alta frecuencia (>12 Hz) que se produce en bipedestación, normalmente en los músculos que soportan peso, provocando una sensación de inestabilidad o malestar que desaparece al dejar de estar de pie.","Spanish_Disease_Name__c":"temblor ortostático primario","Spanish_GARD_Synonym__c":"pot; top","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":"Primary orthostatic tremor is a rare, progressive movement disorder that causes unsteadiness when standing still, due to a rapid tremor affecting the legs and trunk. The tremor is sometimes described as having 'shaky legs,' and it improves or disappears when walking, sitting, or lying down. This may cause people with Primary orthostatic tremor to attempt to sit again or walk immediately after standing, for fear of falling. People with POT may also experience tiredness, physical exhaustion, muscle stiffness or weakness, and/or pain. The diagnosis of POT relies on a clinical exam as well as a specialized test called a surface electromyogram (EMG), which measures electrical activity in the muscles. The cause of POT is not completely understood, but the disorder is thought to involve dysfunction of the brain's ability to regulate nerve signals that control muscle activity.","Curated_Disease_Description_Source__c":"GARD:0008563","GARD_Synonym__c":"pot; pot - primary orthostatic tremor","Name":"Primary orthostatic tremor","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Tremor Foundation","Website__c":"https://tremor.org.uk/"},{"Account_Name__c":"Orthostatic Tremor Foundation","Website__c":"https://www.orthostatischetremor.nl/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.org/"}],"GARD_Disease_Tag__c":[{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:238606"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715902009","Source__c":"C0878578; MONDO:0016546","Xref__c":"715902009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0878578","Source__c":"C0878578","Xref__c":"C0878578"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=164206","Source__c":"C0878578","Xref__c":"MEDGEN:164206"},{"URL__c":"https://www.orpha.net/en/disease/detail/238606","Source__c":"C0878578; MONDO:0016546; ORPHA:238606","Xref__c":"ORPHA:238606"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536418","Source__c":"MONDO:0016546","Xref__c":"C536418"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016546","Source__c":"GARD:0008563","Xref__c":"MONDO:0016546"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:238606","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002071","HPO_Synonym__c":"Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs","HPO_Name__c":"Abnormality of extrapyramidal motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238606","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"}},{"Provided_By__c":"ORPHA:238606","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238606","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:238606","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:238606","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238606","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology"]},"synonyms":["pot"," pot - primary orthostatic tremor"]}