has material basis in germline mutation in DES congenital nervous system disorder myofibrillar myopathy 1 https://github.com/monarch-initiative/mondo/issues/4370 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/myopathy_myofibrillar_1 arrhythmogenic right ventricular cardiomyopathy 7, formerly GARD:0016870 DES autosomal recessive limb-girdle muscular dystrophy Orphanet:363543 arrhythmogenic right ventricular dysplasia, familial, 7, formerly myopathy, myofibrillar, type 1 DES myofibrillar myopathy (disease) arrhythmogenic right ventricular cardiomyopathy 7 cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly DOID:0080092 myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy Orphanet:98909 MEDGEN:330449 desminopathy desmin-related myofibrillar myopathy autosomal recessive limb-girdle muscular dystrophy type 2R UMLS:C1832370 inclusion body myopathy 1, autosomal dominant MONDO:0011076 desmin-related myopathy CMD1F and LGMD1D cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES myofibrillar myopathy (disease) caused by mutation in DES OMIM:615325 cardiomyopathy, dilated, with conduction defect and muscular dystrophy desminopathy, primary myopathy, myofibrillar, 1 inclusion body myopathy 1, autosomal dominant, formerly myopathy, myofibrillar, desmin-related A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure. desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy OMIM:601419 myofibrillar myopathy 1 DOID:0110286 IBM1 MFM1 myofibrillar myopathy type 1 CMD1F and LGMD1D, formerly arrhythmogenic right ventricular dysplasia, familial, 7 autosomal recessive limb-girdle muscular dystrophy autosomal dominant distal myopathy hereditary inclusion-body myopathy qualitative or quantitative defects of desmin familial dilated cardiomyopathy familial restrictive cardiomyopathy myofibrillar myopathy hereditary neuromuscular disease