BMJ Open (Sep 2020)
Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America
- Joel Oger,
- Joshua D Green,
- Bryan J Traynor,
- Richard J Barohn,
- Michael Benatar,
- Emanuela Bartoccion,
- Derrick Blackmore,
- Manisha Chopra,
- Andrea Corse,
- Mazen M Dimachkie,
- Amelia Evoli,
- Julaine Florence,
- Miriam Freimer,
- James F Howard,
- Theresa Jiwa,
- Henry J Kaminski,
- John T Kissel,
- Wilma J Koopman,
- Bernadette Lipscomb,
- Michelanglo Maestri,
- Mariapaola Marino,
- Janice M Massey,
- April McVey,
- Michelle M Mezei,
- Michael W Nicolle,
- Robert M Pascuzzi,
- Mamatha Pasnoor,
- Alan Pestronk,
- Carlo Provenzano,
- Roberta Ricciardi,
- David P Richman,
- Julie Rowin,
- Donald B Sanders,
- Zaeem Siddiqi,
- Aimee Soloway,
- Gil I Wolfe,
- Charlie Wulf,
- Daniel B Drachman
Affiliations
- Joel Oger
- Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
- Joshua D Green
- 3 Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institutes of Health, Bethesda, Maryland, USA
- Bryan J Traynor
- Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA
- Richard J Barohn
- Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA
- Michael Benatar
- Department of Neurology, University of Miami, Coral Gables, Florida, USA
- Emanuela Bartoccion
- Institute of General Pathology, Catholic University, Fondazione Policlinico Universitario “A. Gemelli”—I.R.C.C.S, Rome, Italy
- Derrick Blackmore
- Department of Medicine, University of Alberta Hospital, Edmonton, Alberta, Canada
- Manisha Chopra
- Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
- Andrea Corse
- Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
- Mazen M Dimachkie
- Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA
- Amelia Evoli
- Istituto di Neurologia, Policlinico A. Gemelli IRCSS, Università Cattolica del S. Cuore, Rome, Italy
- Julaine Florence
- Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA
- Miriam Freimer
- Department of Neurology, Ohio State University Medical Center, Columbus, Ohio, USA
- James F Howard
- Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
- Theresa Jiwa
- Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
- Henry J Kaminski
- Department of Neurology, George Washington University, Washington, DC, USA
- John T Kissel
- Department of Neurology, Ohio State University Medical Center, Columbus, Ohio, USA
- Wilma J Koopman
- Department of Clinical Neurosciences, London Health Sciences Centre, London, Ontario, Canada
- Bernadette Lipscomb
- Department of Neurology, Duke University Medical Center, Durham, North Carolina, USA
- Michelanglo Maestri
- Department of Neuroscience, University of Pisa, Pisa, Italy
- Mariapaola Marino
- Institute of General Pathology, Catholic University, Fondazione Policlinico Universitario “A. Gemelli”—I.R.C.C.S, Rome, Italy
- Janice M Massey
- Department of Neurology, Duke University Medical Center, Durham, North Carolina, USA
- April McVey
- Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA
- Michelle M Mezei
- Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
- Michael W Nicolle
- Division of Neurology, London Health Sciences Centre, London, Ontario, Canada
- Robert M Pascuzzi
- Department of Neurology, Indiana University–Purdue University, Indianapolis, Indiana, USA
- Mamatha Pasnoor
- Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA
- Alan Pestronk
- Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA
- Carlo Provenzano
- Institute of General Pathology, Catholic University, Fondazione Policlinico Universitario “A. Gemelli”—I.R.C.C.S, Rome, Italy
- Roberta Ricciardi
- Department of Neuroscience, University of Pisa, Pisa, Italy
- David P Richman
- Neurology, Center for Neuroscience, University of California, Davis, California, USA
- Julie Rowin
- APAC Centers for Pain Management Wellness and Integrative Neurology, Westchester, Illinois, USA
- Donald B Sanders
- Department of Neurology, Duke University Medical Center, Durham, North Carolina, USA
- Zaeem Siddiqi
- Department of Medicine, University of Alberta Hospital, Edmonton, Alberta, Canada
- Aimee Soloway
- Department of Medicine, University of Alberta Hospital, Edmonton, Alberta, Canada
- Gil I Wolfe
- Department of Neurology, University at Buffalo State University of New York, Buffalo, New York, United States
- Charlie Wulf
- Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA
- Daniel B Drachman
- Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
- DOI
- https://doi.org/10.1136/bmjopen-2020-037909
- Journal volume & issue
-
Vol. 10,
no. 9
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.
