TY - JOUR T1 - Myotonic dystrophy: a cause of acute breathlessness not to be missed JF - Practical Neurology JO - Pract Neurol SP - 48 LP - 52 DO - 10.1136/practneurol-2020-002573 VL - 21 IS - 1 AU - Caroline Kramarz AU - Abigail Turner AU - Vafa Alakbarzade AU - Brendan Mclean Y1 - 2021/02/01 UR - http://pn.bmj.com/content/21/1/48.abstract N2 - Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults, is an autosomal dominant disorder with a wide phenotypic spectrum ranging from oligosymptomatic forms to a life-threatening, multisystem disease. People with DM1 overall have a reduced life expectancy, mainly due to respiratory or cardiac causes. There is no cure but prompt, appropriate symptom management is essential to limit disease-related complications. We present a case of DM1, unrecognised when the patient presented with recurrent type 2 respiratory failure, and initially misdiagnosed as Guillain-Barré syndrome. This misdiagnosis subsequently led to unnecessary investigation and treatment before further detailed neurological examination and collateral family history gave the diagnosis. This case highlights the importance of considering a chronic neuromuscular disorder in patients presenting with acute respiratory failure and an unusual pattern of weakness. ER -