Myotonic dystrophy type 1 as a major risk factor for severe COVID-19?
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ORIGINAL ARTICLE
Myotonic dystrophy type 1 as a major risk factor for severe COVID‑19? Sebastiaan Dhont1 · Rutger Callens1 · Dieter Stevens2 · Fre Bauters2 · Jan L. De Bleecker3 · Eric Derom2 · Eva Van Braeckel2 Received: 7 August 2020 / Accepted: 28 September 2020 © Belgian Neurological Society 2020
Abstract The coronavirus disease 2019 (COVID-19) pandemic is challenging health care systems worldwide. People with myotonic dystrophy type 1 (DM1) represent a high-risk population during infectious disease outbreaks, little is known about the potential impact of COVID-19 on patients with DM1. We studied the clinical course of COVID‐19 in three hospitalized patients with myotonic dystrophy type 1 or Steinert’s disease, between April 1, 2020‐April 30‐2020. All three had advanced Steinert’s disease receiving non-invasive nocturnal home ventilatory support. Two of them lived in a residential care centre. Two patients had a limited respiratory capacity, whereas one patient had a rather preserved functional capacity but more comorbidities. Two out of three patients were obese, none of them had diabetes mellitus. Two patients received hydroxychloroquine. Despite maximal supportive care with oxygen therapy, antibiotics, intensive respiratory physiotherapy and noninvasive positive pressure ventilation, all three patients eventually died due to COVID-19. Our case series of three patients with DM1 admitted for COVID-19 confirms that they are at high risk for severe disease and poor outcome. Clinical trials are needed to define best practices and determinants of outcomes in this unique population. Keywords Steinert’s disease · Myotonic dystrophy · Neuromuscular disorders · COVID-19 · SARS-CoV-2 Abbreviations COVID-19 Coronavirus disease 2019 DM1 Myotonic dystrophy type 1 PCR Polymerase chain reaction SARS-CoV-2 Severe acute respiratory syndrome coronavirus 2 NIPPV Non-invasive positive pressure ventilation ARDS Acute respiratory distress syndrome
* Sebastiaan Dhont [email protected] 1
Department of Internal Medicine and Paediatrics, Ghent University Hospital, Corneel Heymanslaan 10, 9000 Ghent, Belgium
2
Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium
3
Neuromuscular Reference Centre, Ghent University Hospital, Ghent, Belgium
Introduction Myotonic dystrophy type 1 (DM1) or Steinert’s disease is an inherited neuromuscular disorder that primarily affects muscle function, characterized by progressive weakness and sustained muscle contraction [1, 2]. Despite variable penetrance, DM is the most common type of adult muscular dystrophy, affecting at least one in 8000 people worldwide [1, 2]. The genetic background is a variable expansion of an unstable nucleotide repeat located in the non-coding region of the respective gene (DMPK for DM1), causing mis-splicing of mRNAs which affects almost all cells and organs of the human body [2]. Nocturnal non-invasive positive pressure ventilatory support is often used to ensure breathing function. The development of an acute respirat
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