Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America. Issue 9 (18th September 2020)

• Record Type: Journal Article
• Authors: Green, Joshua D; Barohn, Richard J; Bartoccion, Emanuela; Benatar, Michael; Blackmore, Derrick; Chaudhry, Vinay; Chopra, Manisha; Corse, Andrea; Dimachkie, Mazen M; Evoli, Amelia; Florence, Julaine; Freimer, Miriam; Howard, James F; Jiwa, Theresa; Kaminski, Henry J; Kissel, John T; Koopman, Wilma J; Lipscomb, Bernadette; Maestri, Michelanglo; Marino, Mariapaola; Massey, Janice M; McVey, April; Mezei, Michelle M; Muppidi, Srikanth; Nicolle, Michael W; Oger, Joel; Pascuzzi, Robert M; Pasnoor, Mamatha; Pestronk, Alan; Provenzano, Carlo; Ricciardi, Roberta; Richman, David P; Rowin, Julie; Sanders, Donald B; Siddiqi, Zaeem; Soloway, Aimee; Wolfe, Gil I; Wulf, Charlie; Drachman, Daniel B; Traynor, Bryan J;
• Is Part Of: BMJ open. Volume 10:Issue 9(2020)
• Publication Date: 2020-09-18
• Subjects: epidemiology -- neuromuscular disease -- genetics -- neurology -- neurogenetics; Medicine -- Research -- Periodicals; 610.72
• DOI: 10.1136/bmjopen-2020-037909
• Languages: English
• ISSNs: 2044-6055

Abstract

Abstract : Objectives: To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families. Design: Retrospective cohort study. Setting: Clinics across North America. Participants: The study included 1032 patients diagnosed with acetylcholine receptor antibody (AChR)-positive myasthenia gravis. Methods: 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. Results: 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. Discussion: 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.