Acute weakness and elevated creatine kinase levels associated with coxsackievirus infection in LAMA2-related muscular dystrophy

Abstract

Laminin α2-related muscular dystrophies are autosomal recessive disorders with a spectrum of disease from congenital muscular dystrophy to adult-onset limb girdle muscular dystrophy. We report two cases of previously undiagnosed laminin α2-related muscular dystrophy presenting with acute weakness and elevated serum creatine kinase levels in association with coxsackievirus infections. One proband deteriorated at 10 days of age and required intubation. Another, unrelated proband presented at 17 months of age with acute weakness on a background of pre-existing gross motor delay. Both children had significant improvement in weakness and decreases in creatine kinase levels after the acute presentation with the second child returning to baseline strength. Trio whole exome sequencing subsequently identified pathogenic/likely pathogenic variants in the LAMA2 gene in each proband, confirming the diagnosis of laminin α2-related muscular dystrophy. This is the first report of acute illness-associated weakness in laminin α2-related muscular dystrophy.