Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America.

Green, Joshua D; Barohn, Richard J; Bartoccion, Emanuela; Benatar, Michael; Blackmore, Derrick; Chaudhry, Vinay; Chopra, Manisha; Corse, Andrea et al. · BMJ Open · 2020

retrospective_cohort · Level III

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Abstract

To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families. Retrospective cohort study. Clinics across North America. The study included 1032 patients diagnosed with acetylcholine receptor antibody (AChR)-positive myasthenia gravis. Phenotype information of 1032 patients diagnosed with AChR-positive myasthenia gravis was obtained from clinics at 14 centres across North America between January 2010 and January 2011. A critical review of the epidemiological literature on the familial rate of myasthenia gravis was also performed. Among 1032 patients, 58 (5.6%) reported a family history of myasthenia gravis. A history of autoimmune diseases was present in 26.6% of patients and in 28.4% of their family members. The familial rate of myasthenia gravis was higher than would be expected for a sporadic disease. Furthermore, a high proportion of patients had a personal or family history of autoimmune disease. Taken together, these findings suggest a genetic contribution to the pathogenesis of myasthenia gravis.

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