{"Name":"Potassium-aggravated myotonia","DiseaseID__c":"GARD:0004459","id":4459,"encodedName":"potassium-aggravated-myotonia","IsDeleted":false,"Disease_Name_Full__c":"Potassium-aggravated myotonia","Xref_IDs__c":"702355008; C122788; C2931826; C538353; MEDGEN:444151; MONDO:0018959; OMIM:608390; ORPHA:612","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018959","Disease_Description__c":"A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.","GARD_Name__c":"Potassium-aggravated myotonia","GARD_Synonym__c":"k-aggravated myotonia; k+-aggravated myotonia; myotonia congenita, acetazolamide-responsive; myotonia congenita, atypical; myotonia congenita, atypical, acetazolamide-responsive; pam; potassium aggravated myotonia; sodium channel muscle disease; sodium channel myotonia","Curated_Disease_Description_Source__c":"GARD:0004459","Curated_Disease_Description__c":"Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing. Myotonia causes muscle stiffness that worsens after exercise. In this disorder, episodes of myotonia may also be triggered (aggravated) by eating foods that are high in the mineral potassium, such as bananas and potatoes. During these episodes, stiffness occurs in skeletal muscles throughout the body.  Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness (myotonia fluctuans) to severe, disabling disease with frequent attacks (myotonia permanen). Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:612","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018959","ORPHANET_ID__c":"ORPHA:612","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miotonía agravada por potasio","Spanish_Description_Source__c":"ORPHA:612","Spanish_Description__c":"Es una canalopatía muscular que se presenta con una miotonía pura agravada dramáticamente por la ingestión de potasio, sensibilidad variable al frío y sin debilidad episódica. Este grupo incluye tres formas: miotonía fluctuans, miotonía permanens y miotonía sensible a la acetazolamida (consulte estos términos).","Spanish_Disease_Name__c":"miotonía agravada por potasio","Spanish_GARD_Synonym__c":"miotonía agravada por k; miotonía agravada por k+; pam","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":"Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing. Myotonia causes muscle stiffness that worsens after exercise. In this disorder, episodes of myotonia may also be triggered (aggravated) by eating foods that are high in the mineral potassium, such as bananas and potatoes. During these episodes, stiffness occurs in skeletal muscles throughout the body.  Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness (myotonia fluctuans) to severe, disabling disease with frequent attacks (myotonia permanen). Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness.","Curated_Disease_Description_Source__c":"GARD:0004459","GARD_Synonym__c":"k-aggravated myotonia; k+-aggravated myotonia; myotonia congenita, acetazolamide-responsive; myotonia congenita, atypical; myotonia congenita, atypical, acetazolamide-responsive; pam; potassium aggravated myotonia; sodium channel muscle disease; sodium channel myotonia","Name":"Potassium-aggravated myotonia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Periodic Paralysis Association","Website__c":"https://periodicparalysis.org/"},{"Account_Name__c":"Periodic Paralysis International","Website__c":"https://www.hkpp.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":"Childhood","Provided_By__c":"ORPHA:612"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931826"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/612","Source__c":"C2931826; MONDO:0018959; ORPHA:612","Xref__c":"ORPHA:612"},{"URL__c":"https://www.omim.org/entry/608390","Source__c":"C2931826; MONDO:0018959; ORPHA:612","Xref__c":"OMIM:608390"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931826","Source__c":"C2931826","Xref__c":"C2931826"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444151","Source__c":"C2931826","Xref__c":"MEDGEN:444151"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538353","Source__c":"MONDO:0018959","Xref__c":"C538353"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C122788","Source__c":"C2931826; MONDO:0018959","Xref__c":"C122788"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702355008","Source__c":"C2931826; MONDO:0018959","Xref__c":"702355008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018959","Source__c":"GARD:0004459","Xref__c":"MONDO:0018959"},{"URL__c":"https://medlineplus.gov/genetics/condition/potassium-aggravated-myotonia","Source__c":"GARD:0004459","Xref__c":"https://medlineplus.gov/genetics/condition/potassium-aggravated-myotonia"}],"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}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608390","Feature__r":{"HPO_Description__c":"A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025425","HPO_Name__c":"Laryngospasm","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608390","Feature__r":{"HPO_Description__c":"Recurrent episodes of apnea occurring during infancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005949","HPO_Name__c":"Apneic episodes in infancy","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608390","Feature__r":{"HPO_Description__c":"Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010307","HPO_Name__c":"Stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608390","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608390","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608390","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608390","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:608390","Feature__r":{"HPO_Description__c":"Abnormal increase in muscle size and mass not due to training.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003712","HPO_Synonym__c":"Hypertrophic muscles; Increased skeletal muscle cells; Muscle hypertrophy; Muscular hypertrophy","HPO_Name__c":"Skeletal muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608390","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010548","HPO_Synonym__c":"Transient swelling of muscle induced by percussion","HPO_Name__c":"Percussion myotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608390","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012899","HPO_Synonym__c":"Grip myotonia","HPO_Name__c":"Handgrip myotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608390","Feature__r":{"HPO_Description__c":"A condition in which muscles cannot be moved quickly without accompanying pain or spasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003552","HPO_Name__c":"Muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["k-aggravated myotonia"," k+-aggravated myotonia"," myotonia congenita, acetazolamide-responsive"," myotonia congenita, atypical"," myotonia congenita, atypical, acetazolamide-responsive"," pam"," potassium aggravated myotonia"," sodium channel muscle disease"," sodium channel myotonia"]}