Two cases of congenital myasthenic syndrome with vocal cord paralysis

Congenital myasthenic syndrome (CMS) typically presents within the first year of life with fluctuating and fatigable muscle weakness, often affecting ocular and bulbar muscles.1 In spite of bulbar involvement, vocal cord paralysis (VCP) is an uncommon presentation of CMS,[2] and is most often seen in peripheral neuropathies such as TRPV4 mutations.3 We report 2 cases of CMS with 2 novel mutations in which VCP was a major sign.