{"Name":"Myotonia fluctuans","DiseaseID__c":"GARD:0016904","id":16904,"encodedName":"myotonia-fluctuans","IsDeleted":false,"Disease_Name_Full__c":"Myotonia fluctuans","Xref_IDs__c":"715788001; C0752355; C122789; MEDGEN:156269; MONDO:0020481; ORPHA:99734","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020481","Disease_Description__c":"A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.","GARD_Name__c":"Myotonia fluctuans","GARD_Synonym__c":"exercise induced delayed onset myotonia; exercise-induced delayed-onset myotonia; fluctuating myotonia; mf","Curated_Disease_Description_Source__c":"MONDO:0020481","Curated_Disease_Description__c":"A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:99734","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020481","ORPHANET_ID__c":"ORPHA:99734","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miotonía fluctuante","Spanish_Description_Source__c":"ORPHA:99734","Spanish_Description__c":"Es una forma de miotonía agravada por potasio (MAP, consulte este término), insensible al frío, drásticamente fluctuante y que se agrava profundamente con la ingesta de potasio.","Spanish_Disease_Name__c":"miotonía fluctuante","Spanish_GARD_Synonym__c":"miotonía de inicio tardío inducida por el ejercicio","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":"A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.","Curated_Disease_Description_Source__c":"MONDO:0020481","GARD_Synonym__c":"exercise induced delayed onset myotonia; exercise-induced delayed-onset myotonia; fluctuating myotonia; mf","Name":"Myotonia fluctuans","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Periodic Paralysis Association","Website__c":"https://periodicparalysis.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:99734"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/99734","Source__c":"C0752355; MONDO:0020481; ORPHA:99734","Xref__c":"ORPHA:99734"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=156269","Source__c":"C0752355","Xref__c":"MEDGEN:156269"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0752355","Source__c":"C0752355","Xref__c":"C0752355"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715788001","Source__c":"C0752355; MONDO:0020481","Xref__c":"715788001"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C122789","Source__c":"C0752355; MONDO:0020481","Xref__c":"C122789"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020481","Source__c":"GARD:0016904","Xref__c":"MONDO:0020481"}],"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":"ORPHA:99734","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:99734","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030842","HPO_Name__c":"Choking episodes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:99734","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of muscle stiffness that occurs following physical exertion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008967","HPO_Synonym__c":"Exercise-induced muscle stiffness; Muscle stiffness with exercise; Muscle stiffness, exercise-induced","HPO_Name__c":"Exercise-induced muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002104","HPO_Synonym__c":"Absence of spontaneous respiration; Apneic episodes; Apnoea","HPO_Name__c":"Apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Slowed relaxation of muscles in the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012902","HPO_Name__c":"Myotonia of the lower limb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:99734","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Slowed relaxation of muscles in the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012900","HPO_Name__c":"Myotonia of the face","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Slowed relaxation of muscles in the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012903","HPO_Name__c":"Myotonia of the upper limb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Spasticity of one or more muscles innervated by the facial nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002491","HPO_Synonym__c":"Spasticity of the facial muscles","HPO_Name__c":"Spasticity of facial muscles","Feature_System__c":"Nervous System; 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