{"Name":"Episodic kinesigenic dyskinesia","DiseaseID__c":"GARD:0008721","id":8721,"encodedName":"episodic-kinesigenic-dyskinesia","IsDeleted":false,"Disease_Name_Full__c":"Episodic kinesigenic dyskinesia","Xref_IDs__c":"C1868682; MEDGEN:358268; MONDO:0044202; OMIMPS:128200; ORPHA:98809","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":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":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0044202","Disease_Description__c":"Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.","GARD_Name__c":"Episodic kinesigenic dyskinesia","GARD_Synonym__c":"ekd; familial paroxysmal kinesigenic dyskinesia; familial pkd; paroxysmal kinesigenic choreathetosis; paroxysmal kinesigenic choreoathetosis; paroxysmal kinesigenic dyskinesia","Curated_Disease_Description_Source__c":"GARD:0008721","Curated_Disease_Description__c":"Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body. People with familial paroxysmal kinesigenic dyskinesia experience episodes of irregular jerking or shaking movements that are brought on by sudden motion, such as standing up quickly or being startled. An episode may involve slow, prolonged muscle contractions (dystonia); small, fast, 'dance-like' motions (chorea); writhing movements of the limbs (athetosis); or, rarely, flailing movements of the limbs (ballismus).  Familial paroxysmal kinesigenic dyskinesia may affect one or both sides of the body. The type of abnormal movement varies among affected individuals, even among members of the same family. In many people with familial paroxysmal kinesigenic dyskinesia, a pattern of symptoms called an aura immediately precedes the episode. The aura is often described as a crawling or tingling sensation in the affected body part. Individuals with this condition do not lose consciousness during an episode and do not experience any symptoms between episodes. Individuals with familial paroxysmal kinesigenic dyskinesia usually first experience episodes during childhood or adolescence.  Episodes typically last less than five minutes, and the frequency of episodes ranges from one per month to 100 per day. In most affected individuals, episodes occur less often with age. In some people with familial paroxysmal kinesigenic dyskinesia the disorder begins in infancy with recurring seizures characteristic of those in a condition called benign familial infantile seizures. These seizures usually develop in the first year of life and stop by age 3. When benign familial infantile seizures are associated with familial paroxysmal kinesigenic dyskinesia, the condition is known as infantile convulsions and choreoathetosis (ICCA). In families with ICCA, some individuals develop only benign familial infantile seizures, some have only familial paroxysmal kinesigenic dyskinesia, and others have ICCA, which has features of both conditions.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:98809","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0044202","ORPHANET_ID__c":"ORPHA:98809","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Discinesia paroxística cinesigénica","Spanish_Description_Source__c":"ORPHA:98809","Spanish_Description__c":"La discinesia paroxística cinesigética (PKD) es una forma de discinesia paroxística (consulte este término), que se caracteriza por hipercinesias involuntarias breves y recurrentes, como coreoatetosis, balismo, atetosis o distonía, provocadas por movimientos bruscos.","Spanish_Disease_Name__c":"discinesia paroxística cinesigénica","Spanish_GARD_Synonym__c":"coreoatetosis cinesigénica paroxística; discinesia paroxística cinesigénica familiar; pkd familiar","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":"Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body. People with familial paroxysmal kinesigenic dyskinesia experience episodes of irregular jerking or shaking movements that are brought on by sudden motion, such as standing up quickly or being startled. An episode may involve slow, prolonged muscle contractions (dystonia); small, fast, 'dance-like' motions (chorea); writhing movements of the limbs (athetosis); or, rarely, flailing movements of the limbs (ballismus).  Familial paroxysmal kinesigenic dyskinesia may affect one or both sides of the body. The type of abnormal movement varies among affected individuals, even among members of the same family. In many people with familial paroxysmal kinesigenic dyskinesia, a pattern of symptoms called an aura immediately precedes the episode. The aura is often described as a crawling or tingling sensation in the affected body part. Individuals with this condition do not lose consciousness during an episode and do not experience any symptoms between episodes. Individuals with familial paroxysmal kinesigenic dyskinesia usually first experience episodes during childhood or adolescence.  Episodes typically last less than five minutes, and the frequency of episodes ranges from one per month to 100 per day. In most affected individuals, episodes occur less often with age. In some people with familial paroxysmal kinesigenic dyskinesia the disorder begins in infancy with recurring seizures characteristic of those in a condition called benign familial infantile seizures. These seizures usually develop in the first year of life and stop by age 3. When benign familial infantile seizures are associated with familial paroxysmal kinesigenic dyskinesia, the condition is known as infantile convulsions and choreoathetosis (ICCA). In families with ICCA, some individuals develop only benign familial infantile seizures, some have only familial paroxysmal kinesigenic dyskinesia, and others have ICCA, which has features of both conditions.","Curated_Disease_Description_Source__c":"GARD:0008721","GARD_Synonym__c":"ekd; familial paroxysmal kinesigenic dyskinesia; familial pkd; paroxysmal kinesigenic choreathetosis; paroxysmal kinesigenic choreoathetosis; paroxysmal kinesigenic dyskinesia","Name":"Episodic kinesigenic dyskinesia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"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":"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:98809"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98809"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98809"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98809"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008721","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK475803","Source__c":"Gene Review","Xref__c":"NBK475803"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS128200","Source__c":"MONDO:0044202","Xref__c":"OMIMPS:128200"},{"URL__c":"https://www.orpha.net/en/disease/detail/98809","Source__c":"C1868682; MONDO:0044202; ORPHA:98809","Xref__c":"ORPHA:98809"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868682","Source__c":"C1868682","Xref__c":"C1868682"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=358268","Source__c":"C1868682","Xref__c":"MEDGEN:358268"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-paroxysmal-kinesigenic-dyskinesia","Source__c":"GARD:0008721","Xref__c":"https://medlineplus.gov/genetics/condition/familial-paroxysmal-kinesigenic-dyskinesia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044202","Source__c":"GARD:0008721","Xref__c":"MONDO:0044202"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=609221008","Source__c":"C1868682","Xref__c":"609221008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRRT2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prrt2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcna1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNJ10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98809","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98809","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002305","HPO_Synonym__c":"Athetoid movements; Involuntary writhing movements; Involuntary writhing movements in fingers, hands, toes, and feet","HPO_Name__c":"Athetosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98809","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:98809","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002072","HPO_Synonym__c":"Choreic movements; Choreiform movements","HPO_Name__c":"Chorea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98809","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98809","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:98809","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004305","HPO_Synonym__c":"Involuntary movements; Involuntary muscle contractions","HPO_Name__c":"Involuntary movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98809","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal sensory seizure is a type seizure beginning with a subjective sensation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011157","HPO_Synonym__c":"Focal sensory seizures; Partial sensory seizure; Sensory aura","HPO_Name__c":"Focal sensory seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98809","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100660","HPO_Synonym__c":"Disorder of involuntary muscle movements; Dyskinesis","HPO_Name__c":"Dyskinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Dystonia"]},"synonyms":["ekd"," familial paroxysmal kinesigenic dyskinesia"," familial pkd"," paroxysmal kinesigenic choreathetosis"," paroxysmal kinesigenic choreoathetosis"," paroxysmal kinesigenic dyskinesia"]}