{"Name":"Hypokalemic periodic paralysis","DiseaseID__c":"GARD:0006729","id":6729,"encodedName":"hypokalemic-periodic-paralysis","IsDeleted":false,"Disease_Name_Full__c":"Hypokalemic periodic paralysis","Xref_IDs__c":"82732003; C0238358; C84775; D020514; DOID:14452; MEDGEN:116058; MONDO:0008223; NBK1338; ORPHA:681","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008223","Disease_Description__c":"A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels.","GARD_Name__c":"Hypokalemic periodic paralysis","GARD_Synonym__c":"familial hypokalemic periodic paralysis; familial periodic paralysis (& [hypokalaemic]); hkpp; hokpp; hokpp - hypokalemic periodic paralysis; hypokalemic familial periodic paralysis; hypopp; periodic hypokalemic paralysis; periodic paralysis i; westphall disease","Curated_Disease_Description_Source__c":"GARD:0006729","Curated_Disease_Description__c":"Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence.  Most often, these episodes involve a temporary inability to move muscles in the arms and legs.  Attacks cause severe weakness or paralysis that usually lasts from hours to days.  Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely.  Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications.  Often, a large, carbohydrate-rich meal or vigorous exercise in the evening can trigger an attack upon waking the following morning.  Although affected individuals usually regain their muscle strength between attacks, some develop persistent muscle weakness later in life. People with hypokalemic periodic paralysis typically have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:681","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008223","ORPHANET_ID__c":"ORPHA:681","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Parálisis periódica hipopotasémica","Spanish_Description_Source__c":"ORPHA:681","Spanish_Description__c":"Es una canalopatía muscular poco frecuente de origen genético caracterizada por ataques episódicos recurrentes de debilidad muscular generalizada asociados a una disminución de los niveles de potasio en sangre.","Spanish_Disease_Name__c":"parálisis periódica hipopotasémica","Spanish_GARD_Synonym__c":"enfermedad de westphall; parálisis periódica hipocaliémica; parálisis periódica hipocalémica","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":"Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence.  Most often, these episodes involve a temporary inability to move muscles in the arms and legs.  Attacks cause severe weakness or paralysis that usually lasts from hours to days.  Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely.  Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications.  Often, a large, carbohydrate-rich meal or vigorous exercise in the evening can trigger an attack upon waking the following morning.  Although affected individuals usually regain their muscle strength between attacks, some develop persistent muscle weakness later in life. People with hypokalemic periodic paralysis typically have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition.","Curated_Disease_Description_Source__c":"GARD:0006729","GARD_Synonym__c":"familial hypokalemic periodic paralysis; familial periodic paralysis (& [hypokalaemic]); hkpp; hokpp; hokpp - hypokalemic periodic paralysis; hypokalemic familial periodic paralysis; hypopp; periodic hypokalemic paralysis; periodic paralysis i; westphall disease","Name":"Hypokalemic periodic paralysis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Periodic Paralysis Association","Website__c":"https://periodicparalysis.org/"},{"Account_Name__c":"Periodic Paralysis International","Website__c":"https://www.hkpp.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy UK","Website__c":"https://www.musculardystrophyuk.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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:681"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:681"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0238358"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3714580"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006729","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1338","Source__c":"Gene Review","Xref__c":"NBK1338"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84775","Source__c":"C0238358; MONDO:0008223","Xref__c":"C84775"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=82732003","Source__c":"C0238358; MONDO:0008223","Xref__c":"82732003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020514","Source__c":"C0238358; MONDO:0008223","Xref__c":"D020514"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0238358","Source__c":"C0238358","Xref__c":"C0238358"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14452","Source__c":"MONDO:0008223","Xref__c":"DOID:14452"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=116058","Source__c":"C0238358","Xref__c":"MEDGEN:116058"},{"URL__c":"https://www.orpha.net/en/disease/detail/681","Source__c":"C0238358; MONDO:0008223; ORPHA:681","Xref__c":"ORPHA:681"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008223","Source__c":"GARD:0006729","Xref__c":"MONDO:0008223"},{"URL__c":"https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis","Source__c":"GARD:0006729","Xref__c":"https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCN4A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scn4a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CACNA1S","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cacna1s","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012548","HPO_Synonym__c":"Skeletal muscle fatty infiltration","HPO_Name__c":"Fatty replacement of skeletal muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of strength of the proximal musculature occurring late in the clinical course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003694","HPO_Name__c":"Late-onset proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008180","HPO_Synonym__c":"Mildly elevated CPK; Mildly elevated creatine phosphokinase; Mildly elevated serum CK; Mildly elevated serum CPK; Mildly elevated serum phospho-CK; Mildly increased creatine kinase; Mildly increased serum creatine kinase; Moderately elevated serum CK; Moderately elevated serum CPK; Moderately increased serum creatine kinase","HPO_Name__c":"Mildly elevated creatine kinase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012240","HPO_Name__c":"Increased intramyocellular lipid droplets","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the blood following a meal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011998","HPO_Name__c":"Postprandial hyperglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002486","HPO_Synonym__c":"Delayed relaxation of muscle fibers after contraction","HPO_Name__c":"Myotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","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:681","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030196","HPO_Name__c":"Fatigable weakness of respiratory muscles","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Occasional (5-29%)","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:681","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002747","HPO_Synonym__c":"Decreased lung function due to weak breathing muscles; Decreased respiratory function due to muscle weakness; Respiratory distress due to muscle weakness; Respiratory failure due to muscle weakness; Respiratory muscle weakness","HPO_Name__c":"Respiratory insufficiency due to muscle weakness","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Adrenocortical adenomas are benign tumors of the adrenal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008256","HPO_Synonym__c":"Adrenocortical adenomas","HPO_Name__c":"Adrenocortical adenoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012726","HPO_Synonym__c":"Recurrent low potassium","HPO_Name__c":"Episodic hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003752","HPO_Name__c":"Episodic flaccid weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006670","HPO_Name__c":"Impaired myocardial contractility","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004303","HPO_Synonym__c":"Abnormal skeletal muscle fiber morphology; Abnormality of muscle fibers","HPO_Name__c":"Abnormal muscle fiber morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003470","HPO_Synonym__c":"Inability to move; Paralysis","HPO_Name__c":"Paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased tendency towards muscle fatigue induced by physical exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009020","HPO_Name__c":"Exercise-induced muscle fatigue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Episodes of muscle weakness associated with reduced levels of potassium in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008153","HPO_Synonym__c":"Hypokalemic periodic paresis","HPO_Name__c":"Periodic hypokalemic paresis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:681","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inability to move the muscles of respiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002203","HPO_Name__c":"Respiratory paralysis","Feature_System__c":"Nervous System; Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["familial hypokalemic periodic paralysis"," familial periodic paralysis (& [hypokalaemic])"," hkpp"," hokpp"," hokpp - hypokalemic periodic paralysis"," hypokalemic familial periodic paralysis"," hypopp"," periodic hypokalemic paralysis"," periodic paralysis i"," westphall disease"],"spanishId":13185,"spanishName":"paralisis-periodica-hipocalemica"}