Congenital myasthenic syndrome: a tale of two siblings

Congenital myasthenic syndromes are a group of rare neuromuscular junction disorders. Traditional anticholinesterase inhibitors may not help in congenital myasthenic syndromes and in some variants may actually cause deterioration of symptoms. In this report, we describe a rare case of congenital myasthenic syndrome with heterozygous mutations in CHRNE gene (c.128A > T; heterozygous; exon 11) and COLQ gene (c.1201T > A; heterozygous; exon 16), which did not show improvement on neostigmine test but responded to treatment with oral salbutamol.