{"Name":"Dystonia 5","DiseaseID__c":"GARD:0009817","id":9817,"encodedName":"dystonia-5","IsDeleted":false,"Disease_Name_Full__c":"Dystonia 5","Xref_IDs__c":"715768000; C116719; C1851920; DOID:0090043; MEDGEN:342121; MONDO:0007495; OMIM:128230","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007495","Disease_Description__c":"A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.","GARD_Name__c":"Dystonia 5","GARD_Synonym__c":"autosomal dominant dopa responsive dystonia; autosomal dominant segawa syndrome; dopa-responsive dystonia, autosomal dominant; drd; dystonia type 5; dystonia-parkinsonism with diurnal fluctuation; dystonia, dopa-responsive, autosomal dominant; dystonia, dopa-responsive, with or without hyperphenylalaninemia; dystonia, progressive, with diurnal variation; dyt-gch1; gtp cyclohydrolase 1-deficient dopa-responsive dystonia; hereditary progressive dystonia with marked diurnal fluctuation; segawa syndrome; segawa syndrome, autosomal dominant","Curated_Disease_Description_Source__c":"ORPHA:98808","Curated_Disease_Description__c":"Dopa-responsive dystonia (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood. Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild to severe. In most cases, dystonia begins in the lower limbs and spreads to the upper limbs over time. Symptoms may include unusual limb positioning; a lack of coordination when walking or running; sleep problems; and episodes of depression. Affected people also often develop a group of movement abnormalities called parkinsonism. DRD may be caused by genetic changes in the GCH1, TH or SPR genes, or the cause may be unknown. Depending on the genetic cause, DRD may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98808","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007495","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood. Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild to severe. In most cases, dystonia begins in the lower limbs and spreads to the upper limbs over time. Symptoms may include unusual limb positioning; a lack of coordination when walking or running; sleep problems; and episodes of depression. Affected people also often develop a group of movement abnormalities called parkinsonism. DRD may be caused by genetic changes in the GCH1, TH or SPR genes, or the cause may be unknown. Depending on the genetic cause, DRD may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner.","Curated_Disease_Description_Source__c":"ORPHA:98808","GARD_Synonym__c":"autosomal dominant dopa responsive dystonia; autosomal dominant segawa syndrome; dopa-responsive dystonia, autosomal dominant; drd; dystonia type 5; dystonia-parkinsonism with diurnal fluctuation; dystonia, dopa-responsive, autosomal dominant; dystonia, dopa-responsive, with or without hyperphenylalaninemia; dystonia, progressive, with diurnal variation; dyt-gch1; gtp cyclohydrolase 1-deficient dopa-responsive dystonia; hereditary progressive dystonia with marked diurnal fluctuation; segawa syndrome; segawa syndrome, autosomal dominant","Name":"Dystonia 5","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"},{"Account_Name__c":"Pediatric Neurotransmitter Disease Association","Website__c":"https://www.pndassoc.org/"},{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1851920"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009817","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1508","Source__c":"Gene Review","Xref__c":"NBK1508"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342121","Source__c":"C1851920","Xref__c":"MEDGEN:342121"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090043","Source__c":"MONDO:0007495","Xref__c":"DOID:0090043"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851920","Source__c":"C1851920","Xref__c":"C1851920"},{"URL__c":"https://www.omim.org/entry/128230","Source__c":"C1851920; MONDO:0007495","Xref__c":"OMIM:128230"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715768000","Source__c":"C1851920; MONDO:0007495","Xref__c":"715768000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116719","Source__c":"C1851920","Xref__c":"C116719"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007495","Source__c":"GARD:0009817","Xref__c":"MONDO:0007495"},{"URL__c":"https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia","Source__c":"GARD:0009817","Xref__c":"https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GCH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gch1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:128230","Feature__r":{"HPO_Description__c":"A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008297","HPO_Name__c":"Transient hyperphenylalaninemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration in the distal portions of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006886","HPO_Synonym__c":"Decreased distal vibration sense","HPO_Name__c":"Impaired distal vibration sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","Feature__r":{"HPO_Description__c":"A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002356","HPO_Synonym__c":"Writer's cramp","HPO_Name__c":"Writer's cramp","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002075","HPO_Synonym__c":"Difficulty performing quick and alternating movements; Dysdiadochokinesia","HPO_Name__c":"Dysdiadochokinesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Horizontal nystagmus made apparent by looking to the right or to the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007979","HPO_Synonym__c":"Nystagmus, horizontal, gaze-evoked","HPO_Name__c":"Gaze-evoked horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","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":"OMIM:128230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","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"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002311","HPO_Synonym__c":"Difficulties in coordination; Incoordination; Incoordination of limb movements; Limb incoordination; Poor coordination; Poor motor coordination","HPO_Name__c":"Incoordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002067","HPO_Synonym__c":"Slow movements; Slowness of movements","HPO_Name__c":"Bradykinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002322","HPO_Synonym__c":"Rest tremor; Resting tremor; Tremor at rest","HPO_Name__c":"Resting tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased intensity of muscle tendon reflexes in jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033683","HPO_Synonym__c":"Brisk jaw jerk","HPO_Name__c":"Jaw hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","Feature__r":{"HPO_Description__c":"A type of tremors that is triggered by holding a limb in a fixed position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002174","HPO_Name__c":"Postural tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002396","HPO_Name__c":"Cogwheel rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002548","HPO_Name__c":"Parkinsonism with favorable response to dopaminergic medication","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:128230","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"}}],"tags":{},"synonyms":["autosomal dominant dopa responsive dystonia"," autosomal dominant segawa syndrome"," dopa-responsive dystonia, autosomal dominant"," drd"," dystonia type 5"," dystonia-parkinsonism with diurnal fluctuation"," dystonia, dopa-responsive, autosomal dominant"," dystonia, dopa-responsive, with or without hyperphenylalaninemia"," dystonia, progressive, with diurnal variation"," dyt-gch1"," gtp cyclohydrolase 1-deficient dopa-responsive dystonia"," hereditary progressive dystonia with marked diurnal fluctuation"," segawa syndrome"," segawa syndrome, autosomal dominant"]}