ABSTRACT
Patients with spinal muscular atrophy (SMA) are susceptible to the respiratory infections and might be at a heightened risk of poor clinical outcomes upon contracting coronavirus disease 2019 (COVID-19). In the face of the COVID-19 pandemic, the potential associations of SMA with the susceptibility to and prognostication of COVID-19 need to be clarified. We documented an SMA case who contracted COVID-19 but only developed mild-to-moderate clinical and radiological manifestations of pneumonia, which were relieved by a combined antiviral and supportive treatment. We then reviewed a cohort of patients with SMA who had been living in the Hubei province since November 2019, among which the only 1 out of 56 was diagnosed with COVID-19 (1.79%, 1/56). Bioinformatic analysis was carried out to delineate the potential genetic crosstalk between SMN1 (mutation of which leads to SMA) and COVID-19/lung injury-associated pathways. Protein-protein interaction analysis by STRING suggested that loss-of-function of SMN1 might modulate COVID-19 pathogenesis through CFTR, CXCL8, TNF and ACE. Expression quantitative trait loci analysis also revealed a link between SMN1 and ACE2, despite low-confidence protein-protein interactions as suggested by STRING. This bioinformatic analysis could give hint on why SMA might not necessarily lead to poor outcomes in patients with COVID-19.
Subject(s)
Angiotensin-Converting Enzyme 2/metabolism , COVID-19/metabolism , Muscular Atrophy, Spinal/complications , Survival of Motor Neuron 1 Protein/metabolism , COVID-19/virology , Disease Susceptibility , Humans , Muscular Atrophy, Spinal/metabolism , Muscular Atrophy, Spinal/prevention & control , Protein Binding , Protein Interaction Maps , Renin-Angiotensin System , SARS-CoV-2/isolation & purification , Signal Transduction , Survival of Motor Neuron 1 Protein/geneticsSubject(s)
COVID-19/complications , Muscular Atrophy, Spinal/complications , Adolescent , Adult , Aged , Comorbidity , Female , Humans , Middle Aged , Patient Care Team , Retrospective Studies , Treatment Outcome , Young AdultSubject(s)
Betacoronavirus , Coronavirus Infections/complications , Disease Management , Muscular Atrophy, Spinal/complications , Muscular Atrophy, Spinal/therapy , Pneumonia, Viral/complications , COVID-19 , Consensus , Coronavirus Infections/epidemiology , Humans , Pandemics , Pneumonia, Viral/epidemiology , SARS-CoV-2 , Saudi Arabia/epidemiologyABSTRACT
The coronavirus disease 2019 (COVID-19) pandemic has resulted in reorganization of healthcare settings affecting the delivery of clinical care to patients with spinal muscular atrophy (SMA). There is a concern that patients with SMA may be at increased risk of manifesting severe symptoms of COVID-19. Currently approved therapies for SMA improve survival and motor function; however, their delivery requires an increased exposure to the health system and a dedicated healthcare team. In this study, we discuss consensus recommendations pertaining to care of SMA patients during the pandemic. We highlight that SMA treatments should not be perceived as elective. Decisions regarding the delay of treatments should be made with consideration of the potential risks of COVID-19 exposure and the risk of that delay. We emphasize the importance of collaborative treatment decisions between the patient, family, and healthcare provider, considering any geographic- or institution-specific policies and precautions for COVID-19.