System | Manifestation | Causes |
Brain | Seizures, cognitive disorder, abnormal brain imaging | Congenital myopathy, mitochondrial disorder, myotonic dystrophy |
Eye | Cataracts, retinitis pigmentosa | Myotonic dystrophy, mitochondrial disorder |
Skin | Follicular hyperkeratosis or keloids | Col6A-related congenital muscular dystrophy |
Gottron papules, heliotropic rash, mechanic's hands, facial erythema, calcinosis | Inflammatory myopathy | |
Cardiac | Cardiac conduction defects or cardiomyopathies | Amyloid myopathy, myotonic and other dystrophies |
Pulmonary | Involvement of respiratory muscles causing orthopnea and dyspnea on exertion | Muscular dystrophies |
Interstitial lung disease | Inflammatory myopathies |
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