{"Name":"Thomsen and Becker disease","DiseaseID__c":"GARD:0012301","id":12301,"encodedName":"thomsen-and-becker-disease","IsDeleted":false,"Disease_Name_Full__c":"Thomsen and Becker disease","Xref_IDs__c":"726051002; C84912; CN311573; D009224; DOID:2106; G71.12; MEDGEN:992104; MONDO:0009710; ORPHA:614","USA_Estimate__c":"5,000","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":"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":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0009710","Disease_Description__c":"A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).","GARD_Name__c":"Thomsen and Becker disease","GARD_Synonym__c":"myotonia congenita","Curated_Disease_Description_Source__c":"GARD:0012301","Curated_Disease_Description__c":"Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally.  Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males. People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. This muscle weakness is not seen in people with Thomsen disease.","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:614","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009710","ORPHANET_ID__c":"ORPHA:614","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de thomsen y becker","Spanish_Description_Source__c":"ORPHA:614","Spanish_Description__c":"Es una canalopatía genética y poco frecuente del músculo esquelético caracterizada por una relajación muscular lenta después de la contracción (miotonía).","Spanish_Disease_Name__c":"enfermedad de thomsen y becker","Spanish_GARD_Synonym__c":null,"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":"Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally.  Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males. People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. This muscle weakness is not seen in people with Thomsen disease.","Curated_Disease_Description_Source__c":"GARD:0012301","GARD_Synonym__c":"myotonia congenita","Name":"Thomsen and Becker disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"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":"Muscular Dystrophy Family Foundation","Website__c":"https://mdff.org/"},{"Account_Name__c":"Neuromuscular Disease Foundation","Website__c":"https://CureGNEM.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.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:614"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:614"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:614"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:614"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0027127"},{"Type__c":"GTR","Curie__c":"MEDGEN:C2936781"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012301","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1355","Source__c":"Gene Review","Xref__c":"NBK1355"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84912","Source__c":"MONDO:0009710","Xref__c":"C84912"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726051002","Source__c":"MONDO:0009710","Xref__c":"726051002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009224","Source__c":"MONDO:0009710","Xref__c":"D009224"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2106","Source__c":"MONDO:0009710","Xref__c":"DOID:2106"},{"URL__c":"https://www.orpha.net/en/disease/detail/614","Source__c":"CN311573; MONDO:0009710","Xref__c":"ORPHA:614"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G71.12","Source__c":"MONDO:0009710","Xref__c":"G71.12"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN311573","Source__c":"CN311573","Xref__c":"CN311573"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009710","Source__c":"GARD:0012301","Xref__c":"MONDO:0009710"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=992104","Source__c":"CN311573","Xref__c":"MEDGEN:992104"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/myotonia-congenita"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CLCN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/clcn1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:614","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any anomaly of the progression of electrical impulses through the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031546","HPO_Synonym__c":"Abnormality of cardiac conduction; Abnormality of cardiac conduction system; Cardiac conduction abnormalities; Cardiac conduction defects; Heart conduction disorder","HPO_Name__c":"Cardiac conduction abnormality","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:614","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:614","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":"ORPHA:614","HPO_Frequency__c":"Uncommon (<1-4%)","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:614","HPO_Frequency__c":"Frequent (30-79%)","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:614","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100284","HPO_Name__c":"EMG: myotonic discharges","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:614","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Myotonia that occurs after a period of rest and decreases with continuing exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003740","HPO_Name__c":"Myotonia with warm-up phenomenon","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002312","HPO_Synonym__c":"Clumsiness","HPO_Name__c":"Clumsiness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:614","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:614","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:614","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:614","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Progressively reduced strength of the distal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009063","HPO_Synonym__c":"Muscle weakness, distal, progressive; Muscle weakness, progressive, distal","HPO_Name__c":"Progressive distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["myotonia congenita"],"spanishId":13397,"spanishName":"miotonia-congenita"}