Abstract
We present a unique case of intermittent paradoxical vocal fold motion (PVFM) as the presenting symptom of a rare underlying neuromuscular disorder in a neonate. Paramyotonia congenita (PC) is an autosomal dominant condition that typically presents in infancy with myotonic episodes affecting the skeletal muscles. Our patient developed intermittent episodes of stridor quickly progressing to apnea shortly after birth that were marked by PVFM on laryngoscopy, ultimately leading to the diagnosis of a previously unrecognized mutation in SCN4A, the gene responsible for PC.
