{"Name":"Myofibrillar myopathy","DiseaseID__c":"GARD:0010529","id":10529,"encodedName":"myofibrillar-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Myofibrillar myopathy","Xref_IDs__c":"699269005; C2678065; C580316; C83009; DOID:0080307; HP:0003715; MEDGEN:395532; MONDO:0018943; OMIMPS:601419; ORPHA:593","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018943","Disease_Description__c":"Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.","GARD_Name__c":"Myofibrillar myopathy","GARD_Synonym__c":"myofibrillar changes; myofibrillar myopathy (disease)","Curated_Disease_Description_Source__c":"GARD:0010529","Curated_Disease_Description__c":"Myofibrillar myopathy refers to a group of disorders that are characterized by muscle weakness (myopathy) that worsens over time. Myofibrillar myopathy primarily affects the skeletal muscles, which are the muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of myofibrillar myopathy vary widely among affected individuals. People with this disorder typically begin to develop myopathy in mid-adulthood. However, the features of this condition can appear anytime between infancy and late adulthood. Myopathy most often begins in the hands, forearms, feet, and lower legs (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). The weakness can spread to other muscles.  Other signs and symptoms of myofibrillar myopathy can include muscle pain (myalgia) or weakness and loss of sensation in the limbs (peripheral neuropathy). Affected individuals may also have skeletal problems, which can include joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Some people with myofibrillar myopathy develop clouding in the lenses of the eyes (cataracts). Some people with myofibrillar myopathy develop cardiomyopathy, which is a weakening of the heart muscle. In some cases, cardiomyopathy is the first sign of the disorder. In rare cases, the muscles used for speaking, swallowing, or breathing are affected in people with myofibrillar myopathy. When the muscles used for breathing are involved, affected individuals may experience extreme tiredness (fatigue), breathing difficulties, and, in severe cases, respiratory failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:593","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018943","ORPHANET_ID__c":"ORPHA:593","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía miofibrilar","Spanish_Description_Source__c":"ORPHA:593","Spanish_Description__c":"Este término describe un grupo de trastornos musculares esqueléticos y cardíacos definido por la desintegración de las miofibrillas y el acúmulo de productos de degradación en inclusiones intracelulares. Clínicamente se caracteriza por una debilidad muscular lentamente progresiva, que afecta inicialmente a los músculos distales, siendo muy variable y que puede afectar también a los músculos proximales, así como a los músculos cardíacos y respiratorios en algunos afectados.","Spanish_Disease_Name__c":"miopatía miofibrilar","Spanish_GARD_Synonym__c":"mfm; mmf","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":"Myofibrillar myopathy refers to a group of disorders that are characterized by muscle weakness (myopathy) that worsens over time. Myofibrillar myopathy primarily affects the skeletal muscles, which are the muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of myofibrillar myopathy vary widely among affected individuals. People with this disorder typically begin to develop myopathy in mid-adulthood. However, the features of this condition can appear anytime between infancy and late adulthood. Myopathy most often begins in the hands, forearms, feet, and lower legs (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). The weakness can spread to other muscles.  Other signs and symptoms of myofibrillar myopathy can include muscle pain (myalgia) or weakness and loss of sensation in the limbs (peripheral neuropathy). Affected individuals may also have skeletal problems, which can include joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Some people with myofibrillar myopathy develop clouding in the lenses of the eyes (cataracts). Some people with myofibrillar myopathy develop cardiomyopathy, which is a weakening of the heart muscle. In some cases, cardiomyopathy is the first sign of the disorder. In rare cases, the muscles used for speaking, swallowing, or breathing are affected in people with myofibrillar myopathy. When the muscles used for breathing are involved, affected individuals may experience extreme tiredness (fatigue), breathing difficulties, and, in severe cases, respiratory failure.","Curated_Disease_Description_Source__c":"GARD:0010529","GARD_Synonym__c":"myofibrillar changes; myofibrillar myopathy (disease)","Name":"Myofibrillar myopathy","estimateUsa":""}],"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":"Cardiomyopathy Association","Website__c":"https://www.cardiomyopathy.org/"},{"Account_Name__c":"Children's Cardiomyopathy Foundation","Website__c":"https://www.childrenscardiomyopathy.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:593"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2678065"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C83009","Source__c":"C2678065; MONDO:0018943","Xref__c":"C83009"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699269005","Source__c":"C2678065; MONDO:0018943","Xref__c":"699269005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395532","Source__c":"C2678065","Xref__c":"MEDGEN:395532"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080307","Source__c":"MONDO:0018943","Xref__c":"DOID:0080307"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C580316","Source__c":"MONDO:0018943","Xref__c":"C580316"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2678065","Source__c":"C2678065","Xref__c":"C2678065"},{"URL__c":"https://www.orpha.net/en/disease/detail/593","Source__c":"C2678065; MONDO:0018943; ORPHA:593","Xref__c":"ORPHA:593"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS601419","Source__c":"MONDO:0018943","Xref__c":"OMIMPS:601419"},{"URL__c":"https://medlineplus.gov/genetics/condition/myofibrillar-myopathy","Source__c":"GARD:0010529","Xref__c":"https://medlineplus.gov/genetics/condition/myofibrillar-myopathy"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003715","Source__c":"C2678065","Xref__c":"HP:0003715"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018943","Source__c":"GARD:0010529","Xref__c":"MONDO:0018943"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["myofibrillar changes"," myofibrillar myopathy (disease)"],"spanishId":13611,"spanishName":"miopatia-miofibrilar"}