{"Name":"Dopa-responsive dystonia","DiseaseID__c":"GARD:0012144","id":12144,"encodedName":"dopa-responsive-dystonia","IsDeleted":false,"Disease_Name_Full__c":"Dopa-responsive dystonia","Xref_IDs__c":"230332007; C116719; C538007; CN221588; MEDGEN:808180; MONDO:0016812; ORPHA:255","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016812","Disease_Description__c":"Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.","GARD_Name__c":"Dopa-responsive dystonia","GARD_Synonym__c":"dyt5 dystonia; hereditary progressive dystonia with diurnal fluctuation; hpd with diurnal fluctuation; segawa's disease","Curated_Disease_Description_Source__c":"MONDO:0016812","Curated_Disease_Description__c":"Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained use of a medication known as L-Dopa. Signs and symptoms of dopa-responsive dystonia usually appear during childhood, most commonly around age 6. The first signs of the condition are typically the development of inward- and upward-turning feet (clubfeet) and  dystonia in the lower limbs. The dystonia spreads to the upper limbs over time; beginning in adolescence, the whole body is typically involved. Affected individuals may have unusual limb positioning and a lack of coordination when walking or running. Some people with this condition have sleep problems or episodes of depression more frequently than would normally be expected. Over time, affected individuals often develop a group of movement abnormalities called parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). The movement difficulties associated with dopa-responsive dystonia usually worsen with age but stabilize around age 30. A characteristic feature of dopa-responsive dystonia is worsening of movement problems later in the day and an improvement of symptoms in the morning, after sleep (diurnal fluctuation). Rarely, the movement problems associated with dopa-responsive dystonia do not appear until adulthood. In these adult-onset cases, parkinsonism usually develops before dystonia, and movement problems are slow to worsen and do not show diurnal fluctuations.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:255","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016812","ORPHANET_ID__c":"ORPHA:255","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía dopa-sensible","Spanish_Description_Source__c":"ORPHA:255","Spanish_Description__c":"El término distonía sensible a dopa (DRD) describe un grupo de trastornos neurometabólicos caracterizados por una distonía que normalmente muestra fluctuaciones diurnas, responde de manera excelente a la levodopa (L-dopa) y en el que se incluyen la distonía sensible a dopa autosómica dominante (DYT5a), la distonía sensible a dopa autosómica recesiva (DYT5b) y la distonía sensible a dopa causada por deficiencia de sepiapterina-reductasa (SR) (ver estos términos).","Spanish_Disease_Name__c":"distonía dopa-sensible","Spanish_GARD_Synonym__c":"distonía progresiva hereditaria con fluctuación diurna; hpd con fluctuación diurna","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":"Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained use of a medication known as L-Dopa. Signs and symptoms of dopa-responsive dystonia usually appear during childhood, most commonly around age 6. The first signs of the condition are typically the development of inward- and upward-turning feet (clubfeet) and  dystonia in the lower limbs. The dystonia spreads to the upper limbs over time; beginning in adolescence, the whole body is typically involved. Affected individuals may have unusual limb positioning and a lack of coordination when walking or running. Some people with this condition have sleep problems or episodes of depression more frequently than would normally be expected. Over time, affected individuals often develop a group of movement abnormalities called parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). The movement difficulties associated with dopa-responsive dystonia usually worsen with age but stabilize around age 30. A characteristic feature of dopa-responsive dystonia is worsening of movement problems later in the day and an improvement of symptoms in the morning, after sleep (diurnal fluctuation). Rarely, the movement problems associated with dopa-responsive dystonia do not appear until adulthood. In these adult-onset cases, parkinsonism usually develops before dystonia, and movement problems are slow to worsen and do not show diurnal fluctuations.","Curated_Disease_Description_Source__c":"MONDO:0016812","GARD_Synonym__c":"dyt5 dystonia; hereditary progressive dystonia with diurnal fluctuation; hpd with diurnal fluctuation; segawa's disease","Name":"Dopa-responsive 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 Medical Research Foundation Canada","Website__c":"https://dystoniacanada.org/"},{"Account_Name__c":"Dystonia Network of Australia","Website__c":"https://dystonia.org.au/"},{"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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:255"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/255","Source__c":"CN221588; MONDO:0016812","Xref__c":"ORPHA:255"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116719","Source__c":"MONDO:0016812","Xref__c":"C116719"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230332007","Source__c":"MONDO:0016812","Xref__c":"230332007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538007","Source__c":"MONDO:0016812","Xref__c":"C538007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=808180","Source__c":"CN221588","Xref__c":"MEDGEN:808180"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN221588","Source__c":"CN221588","Xref__c":"CN221588"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016812","Source__c":"GARD:0012144","Xref__c":"MONDO:0016812"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Dystonia"]},"synonyms":["dyt5 dystonia"," hereditary progressive dystonia with diurnal fluctuation"," hpd with diurnal fluctuation"," segawa's disease"]}