{"Name":"Proximal myopathy with focal depletion of mitochondria","DiseaseID__c":"GARD:0017956","id":17956,"encodedName":"proximal-myopathy-with-focal-depletion-of-mitochondria","IsDeleted":false,"Disease_Name_Full__c":"Proximal myopathy with focal depletion of mitochondria","Xref_IDs__c":"1197756002; C1833453; C563453; MEDGEN:318881; MONDO:0010923; OMIM:600706; ORPHA:521305","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:521305","Disease_Description__c":"A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.","GARD_Name__c":"Proximal myopathy with focal depletion of mitochondria","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:521305","Curated_Disease_Description__c":"A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.","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:521305","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010923","ORPHANET_ID__c":"ORPHA:521305","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía proximal con depleción mitocondrial focal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía proximal con depleción mitocondrial focal","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":"A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.","Curated_Disease_Description_Source__c":"ORPHA:521305","Name":"Proximal myopathy with focal depletion of mitochondria","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.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:521305"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:521305"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:521305"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/600706","Source__c":"C1833453; MONDO:0010923; ORPHA:521305","Xref__c":"OMIM:600706"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833453","Source__c":"C1833453","Xref__c":"C1833453"},{"URL__c":"https://www.orpha.net/en/disease/detail/521305","Source__c":"C1833453; MONDO:0010923; ORPHA:521305","Xref__c":"ORPHA:521305"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563453","Source__c":"MONDO:0010923","Xref__c":"C563453"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318881","Source__c":"C1833453","Xref__c":"MEDGEN:318881"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010923","Source__c":"GARD:0017956","Xref__c":"MONDO:0010923"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197756002","Source__c":"C1833453","Xref__c":"1197756002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CHKB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Mitochondrial inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600706","Feature__r":{"HPO_Description__c":"The occurrence of an unusually high amount of muscle pain following exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003738","HPO_Synonym__c":"Exercise-induced muscle pain; Muscle pain on exercise; Muscle pain with exercise; Muscle pain, exercise-induced","HPO_Name__c":"Exercise-induced myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600706","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":"OMIM:600706","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":[""]}