PT  - JOURNAL ARTICLE
AU  - Caroline Kramarz
AU  - Abigail Turner
AU  - Vafa Alakbarzade
AU  - Brendan Mclean
TI  - Myotonic dystrophy: a cause of acute breathlessness not to be missed
AID  - 10.1136/practneurol-2020-002573
DP  - 2021 Feb 01
TA  - Practical Neurology
PG  - 48--52
VI  - 21
IP  - 1
4099  - http://pn.bmj.com/content/21/1/48.short
4100  - http://pn.bmj.com/content/21/1/48.full
SO  - Pract Neurol2021 Feb 01; 21
AB  - 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.