CTICasesMyotonic Dystrophy Type 1 with Diaphragmatic and Skeletal Muscle Atrophy
Imaging findings
Chest radiography and CT demonstrate profound, chronic atelectasis of the right middle and lower lobes, with multiple lower lobe bronchi containing retained secretions, aspirated fluid, or mucus plugs. CT of the chest and abdomen reveals severe, diffuse skeletal muscle atrophy involving the shoulder girdle, pectoralis, serratus, latissimus dorsi, and intercostal muscles. Additionally, there is extreme thinning of the diaphragmatic crura bilaterally, indicating advanced diaphragmatic wasting.
Key takeaways
Myotonic dystrophy type 1 is a genetic neuromuscular disorder that can lead to progressive diaphragmatic and respiratory muscle weakness. This muscular weakness severely impairs the patient's ability to clear secretions and increases the risk of chronic aspiration, manifesting radiographically as recurrent lower lobe atelectasis and mucus plugging. Recognizing systemic skeletal and diaphragmatic muscle atrophy on CT can suggest the diagnosis of muscular dystrophy in patients presenting with unexplained chronic atelectasis.
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