Genetic factors may influence the risk of developing myasthenia gravis, as well as its expression

A retrospective study of the records of 281 patients with autoimmune myasthenia gravis followed by an Israeli specialist centre between 2000 and 2022 reveals that:

  • 5.7% of them have a first- or second-degree relative with the same disease, a figure almost identical to that of a previous study (5.6%) conducted in the United States.
  • Compared to sporadic cases of myasthenia gravis, these familial cases are distinguished by an earlier onset and a more often generalised and severe form of myasthenia, but they have a similar long-term response to treatment.

A review of the literature identified the same phenotypic trends for 73 familial cases of myasthenia published elsewhere.

 

Familial myasthenia gravis: characterization of an Israeli cohort and systematic review of the literature. Hellmann MA, Steiner I, Mermelstein M et al. J Neurol. 2025 Jul 10;272(8):498.