{"Name":"Paroxysmal nonkinesigenic dyskinesia","DiseaseID__c":"GARD:0008722","id":8722,"encodedName":"paroxysmal-nonkinesigenic-dyskinesia","IsDeleted":false,"Disease_Name_Full__c":"Paroxysmal nonkinesigenic dyskinesia","Xref_IDs__c":"609218006; C1869117; MEDGEN:401504; MONDO:0700088; ORPHA:98810","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0700088","Disease_Description__c":"Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.","GARD_Name__c":"Paroxysmal nonkinesigenic dyskinesia","GARD_Synonym__c":"familial paroxysmal choreoathetosis; mount-reback syndrome; paroxysmal non-kinesigenic dyskinesia; paroxystic non-kinesigenic choreoathetosis","Curated_Disease_Description_Source__c":"GARD:0008722","Curated_Disease_Description__c":"Paroxysmal nonkinesigenic dyskinesia (PNKD) is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. The movements may have no known trigger or be brought on by alcohol, caffeine, stress, fatigue, menses, or excitement. The familial form is caused by genetic changes in the PNKD gene and is inherited in an autosomal dominant pattern.","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:98810","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0700088","ORPHANET_ID__c":"ORPHA:98810","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Discinesia paroxística no cinesigénica","Spanish_Description_Source__c":"ORPHA:98810","Spanish_Description__c":"La discinesia paroxística no cinesigenica (PNKD) es una forma de discinesia paroxística (consulte este término), que se caracteriza por ataques de movimientos distónicos o coreoatetósicos provocados por estrés, fatiga, la ingesta de café o alcohol o la menstruación.","Spanish_Disease_Name__c":"discinesia paroxística no cinesigénica","Spanish_GARD_Synonym__c":"coreoatetosis paroxística no cinesigénica","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":"Paroxysmal nonkinesigenic dyskinesia (PNKD) is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. The movements may have no known trigger or be brought on by alcohol, caffeine, stress, fatigue, menses, or excitement. The familial form is caused by genetic changes in the PNKD gene and is inherited in an autosomal dominant pattern.","Curated_Disease_Description_Source__c":"GARD:0008722","GARD_Synonym__c":"familial paroxysmal choreoathetosis; mount-reback syndrome; paroxysmal non-kinesigenic dyskinesia; paroxystic non-kinesigenic choreoathetosis","Name":"Paroxysmal nonkinesigenic 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":"Childhood","Provided_By__c":"ORPHA:98810"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98810"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98810"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:98810"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1869117"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008722","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1221","Source__c":"Gene Review","Xref__c":"NBK1221"},{"URL__c":"https://www.orpha.net/en/disease/detail/98810","Source__c":"C1869117; MONDO:0700088; ORPHA:98810","Xref__c":"ORPHA:98810"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401504","Source__c":"C1869117","Xref__c":"MEDGEN:401504"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1869117","Source__c":"C1869117","Xref__c":"C1869117"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0700088","Source__c":"GARD:0008722","Xref__c":"MONDO:0700088"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=609218006","Source__c":"C1869117","Xref__c":"609218006"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-paroxysmal-nonkinesigenic-dyskinesia","Source__c":"GARD:0008722","Xref__c":"https://medlineplus.gov/genetics/condition/familial-paroxysmal-nonkinesigenic-dyskinesia"}],"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":"PNKD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pnkd","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98810","HPO_Frequency__c":"Frequent (30-79%)","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:98810","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Motor hyperactivity with excessive movement of muscles of the body as a whole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002487","HPO_Synonym__c":"Hyperactive movements; Hyperkinesia; Hyperkinesis","HPO_Name__c":"Hyperkinetic movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98810","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001266","HPO_Synonym__c":"Choreoathetoid movements","HPO_Name__c":"Choreoathetosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98810","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003324","HPO_Synonym__c":"Generalized weakness; Muscle weakness, diffuse; Muscle weakness, generalized","HPO_Name__c":"Generalized muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98810","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Limitation in the ability to open the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000211","HPO_Synonym__c":"Lockjaw; Pain of muscles of mastication","HPO_Name__c":"Trismus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98810","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007166","HPO_Name__c":"Paroxysmal dyskinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98810","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98810","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:98810","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98810","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:98810","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98810","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:98810","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in which the eyes are held permanently wide open.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025401","HPO_Synonym__c":"Episodes of staring; Staring episodes; Staring eyes","HPO_Name__c":"Staring gaze","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98810","HPO_Frequency__c":"Frequent (30-79%)","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:98810","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Dystonia"]},"synonyms":["familial paroxysmal choreoathetosis"," mount-reback syndrome"," paroxysmal non-kinesigenic dyskinesia"," paroxystic non-kinesigenic choreoathetosis"]}