Congenital myasthenic syndromes are a rare subgroup of neuromuscular diseases caused by genetic defects in proteins involved in the structure, function and repair of the neuromuscular junction. Although these syndromes usually start in the neonatal and childhood periods, they may rarely start in adulthood. Because the clinical and laboratory findings of congenital myasthenic syndrome that starts in adulthood closely resemble those of seronegative myasthenia gravis, a differential diagnosis between the two is essential. This differential diagnosis is clinically important because treatment approaches and drug responses differ between the two diseases. Here, we aimed to draw attention to this disease and increase clinical awareness by presenting a case of congenital myasthenic syndrome diagnosed in adulthood.

Keywords: CHRNE, congenital nyasthenic syndrome, neuromuscular diseases