Myotonic dystrophy: a cause of acute breathlessness not to be missed

• Published in: Practical neurology Vol. 21; no. 1; pp. 48 - 52
• Main Authors: Kramarz, Caroline, Turner, Abigail, Alakbarzade, Vafa, Mclean, Brendan
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.02.2021
• Subjects: Abdomen; Adenosine triphosphatase; Anemia; Antibiotics; Atrophy; Biopsy; Body mass index; Carbon dioxide; Cardiology; Critical care; Dyspnea; Electrocardiography; Electromyography; Guillain-Barre syndrome; Kinases; Patients; Respiratory failure; Sleep; Spirometry; Streptococcus infections; Ventilators; Myotonic dystrophy
• ISSN: 1474-7758; 1474-7766
• DOI: 10.1136/practneurol-2020-002573

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.