Details of Disease
General Information of Disease (ID: DIS99A51)
| Disease Name | Myofibrillar myopathy 1 | |||||
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| Synonyms |
desminopathy, primary; myopathy, myofibrillar, 1; desmin-related myopathy; MFM1; arrhythmogenic right ventricular cardiomyopathy 7, formerly; cardiomyopathy, dilated, with conduction defect and muscular dystrophy; inclusion body myopathy 1, autosomal dominant, formerly; myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy; desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy; inclusion body myopathy 1, autosomal dominant; myopathy, myofibrillar, desmin-related; CMD1F and LGMD1D; cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly; CMD1F and LGMD1D, formerly; IBM1; arrhythmogenic right ventricular dysplasia, familial, 7, formerly; cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D; arrhythmogenic right ventricular cardiomyopathy 7; arrhythmogenic right ventricular dysplasia, familial, 7; desminopathy; DES autosomal recessive limb-girdle muscular dystrophy; myofibrillar myopathy type 1; autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES; autosomal recessive limb-girdle muscular dystrophy type 2R; myofibrillar myopathy (disease) caused by mutation in DES; desmin-related myofibrillar myopathy; DES myofibrillar myopathy (disease); myopathy, myofibrillar, type 1; myofibrillar myopathy 1
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| 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.
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| Disease Hierarchy | ||||||
| Disease Identifiers | ||||||
Molecular Interaction Atlas (MIA) of This Disease
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This Disease Is Related to 3 DTT Molecule(s)
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This Disease Is Related to 1 DME Molecule(s)
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This Disease Is Related to 2 DOT Molecule(s)
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References