A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report

Noriaki Nishihara, Shunsuke Tachibana, Hajime Sonoda, Michiaki Yamakage
2020 JA Clinical Reports  
Background Myotonic dystrophy is a disorder affecting multiple organs including skeletal muscles and causes respiratory failure. We describe a patient who developed respiratory failure, with delayed diagnosis of myotonic dystrophy type 1 as the cause. Case presentation A 62-year-old woman developed acute onset of dyspnea after showing hypertension and tachycardia and was transported to our hospital. On arrival at our institution, SpO2 was 80% with a non-rebreather mask. With a diagnosis of
more » ... a diagnosis of acute phase heart failure, she underwent tracheal intubation. However, weaning from the respirator was difficult in the intensive care unit (ICU). A detailed interview revealed that her brother was affected with myotonic dystrophy type 1. She was also diagnosed with myotonic dystrophy type 1 by a genetic test. Conclusions Taking a careful past and family history and prompt genetic testing is required on suspicion of neuromuscular diseases in a patient with respiratory failure by an unknown cause.
doi:10.1186/s40981-020-00388-7 pmid:33033872 fatcat:x5vepvecdjczndlqs34tes42pq