Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America
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 rece...
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BMJ Publishing Group
2020-09-01
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| Series: | BMJ Open |
| Online Access: | https://bmjopen.bmj.com/content/10/9/e037909.full |
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| author | Joel Oger Joshua D Green Bryan J Traynor Richard J Barohn Michael Benatar Emanuela Bartoccion Derrick Blackmore Vinay Chaudhry 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 Srikanth Muppidi 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 |
| author_facet | Joel Oger Joshua D Green Bryan J Traynor Richard J Barohn Michael Benatar Emanuela Bartoccion Derrick Blackmore Vinay Chaudhry 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 Srikanth Muppidi 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 |
| author_sort | Joel Oger |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-0145aad817a242af8725bc4e583792df |
| institution | Kabale University |
| issn | 2044-6055 |
| language | English |
| publishDate | 2020-09-01 |
| publisher | BMJ Publishing Group |
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| series | BMJ Open |
| spelling | doaj-art-0145aad817a242af8725bc4e583792df2025-01-08T18:45:08ZengBMJ Publishing GroupBMJ Open2044-60552020-09-0110910.1136/bmjopen-2020-037909Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North AmericaJoel Oger0Joshua D Green1Bryan J Traynor2Richard J Barohn3Michael Benatar4Emanuela Bartoccion5Derrick Blackmore6Vinay Chaudhry7Manisha Chopra8Andrea Corse9Mazen M Dimachkie10Amelia Evoli11Julaine Florence12Miriam Freimer13James F Howard14Theresa Jiwa15Henry J Kaminski16John T Kissel17Wilma J Koopman18Bernadette Lipscomb19Michelanglo Maestri20Mariapaola Marino21Janice M Massey22April McVey23Michelle M Mezei24Srikanth Muppidi25Michael W Nicolle26Robert M Pascuzzi27Mamatha Pasnoor28Alan Pestronk29Carlo Provenzano30Roberta Ricciardi31David P Richman32Julie Rowin33Donald B Sanders34Zaeem Siddiqi35Aimee Soloway36Gil I Wolfe37Charlie Wulf38Daniel B Drachman39Division of Neurology, University of British Columbia, Vancouver, British Columbia, CanadaNeuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging Intramural Research Program, Bethesda, Maryland, USADepartment of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USADepartment of Neurology, The University of Kansas Medical Center, Kansas City, Kansas, USADepartment of Neurology, University of Miami, Coral Gables, Florida, USAInstitute of General Pathology, Catholic University, Fondazione Policlinico Universitario “A. Gemelli”—I.R.C.C.S, Rome, ItalyDepartment of Medicine, University of Alberta Hospital, Edmonton, Alberta, CanadaDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USADepartment of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USADepartment of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USADepartment of Neurology, University of Kansas Medical Center, Kansas City, Missouri, USA1 Neuroscience Department, Universita Cattolica del Sacro Cuore Facolta di Medicina e Chirurgia, Roma, ItalyDepartment of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USADepartment of Neurology, Ohio State University Medical Center, Columbus, Ohio, USA14Department of Neurology, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USADivision of Neurology, University of British Columbia, Vancouver, British Columbia, CanadaDepartment of Neurology, George Washington University, Washington, DC, USADepartment of Neurology, Ohio State University Medical Center, Columbus, Ohio, USADepartment of Clinical Neurosciences, London Health Sciences Centre, London, Ontario, CanadaDepartment of Neurology, Duke University Medical Center, Durham, North Carolina, USADepartment of Neuroscience, University of Pisa, Pisa, ItalyInstitute of General Pathology, Catholic University, Fondazione Policlinico Universitario “A. Gemelli”—I.R.C.C.S, Rome, ItalyDepartment of Neurology, Duke University Medical Center, Durham, North Carolina, USADepartment of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USADivision of Neurology, University of British Columbia, Vancouver, British Columbia, CanadaDepartment of Neurology and Neurosciences, Stanford University, Stanford, California, USADivision of Neurology, London Health Sciences Centre, London, Ontario, Canada3Neurology Department, Indiana University School of Medicine, Indiana University Health, Indianapolis, IN, USADepartment of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USADepartment of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USAInstitute of General Pathology, Catholic University, Fondazione Policlinico Universitario “A. Gemelli”—I.R.C.C.S, Rome, ItalyDepartment of Neuroscience, University of Pisa, Pisa, ItalyNeurology, Center for Neuroscience, University of California, Davis, California, USAAPAC Centers for Pain Management Wellness and Integrative Neurology, Westchester, Illinois, USADepartment of Neurology, Duke University Medical Center, Durham, North Carolina, USADepartment of Medicine, University of Alberta Hospital, Edmonton, Alberta, CanadaDepartment of Medicine, University of Alberta Hospital, Edmonton, Alberta, CanadaDepartment of Neurology, University at Buffalo State University of New York, Buffalo, New York, United StatesDepartment of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USADepartment of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USAObjectives 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.https://bmjopen.bmj.com/content/10/9/e037909.full |
| spellingShingle | Joel Oger Joshua D Green Bryan J Traynor Richard J Barohn Michael Benatar Emanuela Bartoccion Derrick Blackmore Vinay Chaudhry 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 Srikanth Muppidi 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 Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America BMJ Open |
| title | Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America |
| title_full | Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America |
| title_fullStr | Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America |
| title_full_unstemmed | Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America |
| title_short | Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America |
| title_sort | epidemiological evidence for a hereditary contribution to myasthenia gravis a retrospective cohort study of patients from north america |
| url | https://bmjopen.bmj.com/content/10/9/e037909.full |
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