Also Known As
DES autosomal recessive limb-girdle muscular dystrophyDES myofibrillar myopathy (disease)autosomal recessive limb-girdle muscular dystrophy caused by mutation in DESautosomal recessive limb-girdle muscular dystrophy type 2Rdesmin-related myofibrillar myopathydesminopathymyofibrillar myopathy (disease) caused by mutation in DESmyofibrillar myopathy 1myofibrillar myopathy type 1myopathy, myofibrillar, type 1CMD1F and LGMD1DCMD1F and LGMD1D, formerlyIBM1MFM1arrhythmogenic right ventricular cardiomyopathy 7arrhythmogenic right ventricular cardiomyopathy 7, formerlyarrhythmogenic right ventricular dysplasia, familial, 7arrhythmogenic right ventricular dysplasia, familial, 7, formerlycardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1Dcardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerlycardiomyopathy, dilated, with conduction defect and muscular dystrophydesmin-related myopathydesmin-related myopathy with arrhythmogenic right ventricular cardiomyopathydesminopathy, primaryinclusion body myopathy 1, autosomal dominantinclusion body myopathy 1, autosomal dominant, formerlymyofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathymyopathy, myofibrillar, 1myopathy, myofibrillar, desmin-related
Definition
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.