{"Name":"Brody myopathy","DiseaseID__c":"GARD:0009158","id":9158,"encodedName":"brody-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Brody myopathy","Xref_IDs__c":"703530005; C1832918; C536607; DOID:0050692; MEDGEN:371441; MONDO:0010977; OMIM:601003; ORPHA:53347","USA_Estimate__c":"1,000","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":"1 to 8,000","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":3,"Description_Source__c":"MONDO:0010977","Disease_Description__c":"Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.","GARD_Name__c":"Brody myopathy","GARD_Synonym__c":"brody disease","Curated_Disease_Description_Source__c":"GARD:0009158","Curated_Disease_Description__c":"Brody myopathy is a condition that affects the skeletal muscles, which are the muscles used for movement. Affected individuals experience muscle cramping and stiffening after exercise or other strenuous activity, especially in cold temperatures. These symptoms typically begin in childhood. They are usually painless, but in some cases can cause mild discomfort. The muscles usually relax after a few minutes of rest. Most commonly affected are the muscles of the arms, legs, and face (particularly the eyelids). In some people with Brody myopathy, exercise leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:53347","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010977","ORPHANET_ID__c":"ORPHA:53347","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía de brody","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía de brody","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":"Brody myopathy is a condition that affects the skeletal muscles, which are the muscles used for movement. Affected individuals experience muscle cramping and stiffening after exercise or other strenuous activity, especially in cold temperatures. These symptoms typically begin in childhood. They are usually painless, but in some cases can cause mild discomfort. The muscles usually relax after a few minutes of rest. Most commonly affected are the muscles of the arms, legs, and face (particularly the eyelids). In some people with Brody myopathy, exercise leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown.","Curated_Disease_Description_Source__c":"GARD:0009158","GARD_Synonym__c":"brody disease","Name":"Brody myopathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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:53347"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:53347"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:53347"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832918"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009158","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371441","Source__c":"C1832918","Xref__c":"MEDGEN:371441"},{"URL__c":"https://www.orpha.net/en/disease/detail/53347","Source__c":"C1832918; MONDO:0010977; ORPHA:53347","Xref__c":"ORPHA:53347"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050692","Source__c":"MONDO:0010977","Xref__c":"DOID:0050692"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832918","Source__c":"C1832918","Xref__c":"C1832918"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703530005","Source__c":"C1832918; MONDO:0010977","Xref__c":"703530005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536607","Source__c":"MONDO:0010977","Xref__c":"C536607"},{"URL__c":"https://www.omim.org/entry/601003","Source__c":"C1832918; MONDO:0010977; ORPHA:53347","Xref__c":"OMIM:601003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010977","Source__c":"GARD:0009158","Xref__c":"MONDO:0010977"},{"URL__c":"https://medlineplus.gov/genetics/condition/brody-myopathy","Source__c":"GARD:0009158","Xref__c":"https://medlineplus.gov/genetics/condition/brody-myopathy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATP2A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atp2a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601003","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to run.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009046","HPO_Synonym__c":"Difficulty running","HPO_Name__c":"Difficulty running","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601003","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601003","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002047","HPO_Name__c":"Malignant hyperthermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601003","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:601003","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles brought on by physical exertion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003710","HPO_Synonym__c":"Exercise-induced muscle cramping; Exercise-induced muscle cramps; Muscle cramps following exercise; Muscle cramps on exercise; Muscle cramps on exertion; Muscle cramps with exertion","HPO_Name__c":"Exercise-induced muscle cramps","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["brody disease"]}