COVID-19 disease course may be benign in some patients with late-onset Pompe disease (LOPD), according to a new case series published in Muscle & Nerve.

The results showed that 4 patients with LOPD who had pre-existing pulmonary involvement had mild to moderate illnesses from COVID-19 did not require hospitalization.

Respiratory Pompe symptoms remained stable in the 3 patients with pre- and post-COVID pulmonary function data, but 1 of the patients experienced neurological worsening. This patient still reported an increase in Pompe-related fatigue and general weakness at a 3-month follow-up.

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“Due to the variable nature of the virus, and continuous emergence of newer and more virulent mutant strains, individuals with LOPD remain at high risk and should receive COVID-19 vaccinations and exercise precautions to avoid exposure to COVID-19 infection,” the authors said despite the benign course of infection in this set of patients.

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All 4 patients had polymerase chain reaction testing that confirmed COVID-19 infections which ranged in duration from 6 to 16 days. Symptomatic acetaminophen treatment was administered to 2 of the patients while the other 2 were given high-dose corticosteroids. Of the patients receiving corticosteroids, 1 also received COVID-19 monoclonal antibodies.

COVID-19 symptoms experienced during illness included fever, fatigue, myalgia, diarrhea, cough, nasal congestion, anosmia, loss of appetite, chills, and dyspnea. Only 1 patient experienced hypoxia as measured through transcutaneous oxygen saturation.

Prior to infection, all patients utilized nocturnal noninvasive ventilation due to diaphragmatic insufficiency and all patients had reduced erect forced vital capacity ranging from 47% to 86%.

Patients in the study were aged between 37 and 71 years with disease durations ranging from 4 to 20 years prior to COVID-19 infection. All patients were white males and genetic confirmation of LOPD with each carrying the c.32-13T>G mutation as well as a second more aggressive mutation. Patient follow-up after COVID-19 infection ranged from 4 weeks to 3 months.


Avelar J, Wencel M, Chumakova A, Mozaffar T. COVID-19 infection in patients with late-onset Pompe disease. Muscle Nerve. Published online December 24, 2021. doi:10.1002/mus.27482