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Myotonic dystrophy: a cause of acute breathlessness not to be missed
  1. Caroline Kramarz1,
  2. Abigail Turner2,
  3. Vafa Alakbarzade2,
  4. Brendan Mclean2
  1. 1 Neurology, Queen’s Medical Centre, Nottingham University Hospital NHS Trust, Nottingham, UK
  2. 2 Neurology, Royal Cornwall Hospitals NHS Trust, Truro, UK
  1. Correspondence to Caroline Kramarz, Department of Neurology, Nottingham University Hospitals NHS Foundation Trust; caroline.kramarz{at}nhs.net

Abstract

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.

  • Myotonic dystrophy
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Footnotes

  • Contributors CK, AT and VA wrote the manuscript, CK, VA and BM reviewed, edited and approved the final version of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Consent obtained directly from patient(s).

  • Provenance and peer review Not commissioned. Externally peer reviewed by Jon Walters, Swansea, UK.

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