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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 acetylcholi...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7511637/
https://www.ncbi.nlm.nih.gov/pubmed/32948566
http://dx.doi.org/10.1136/bmjopen-2020-037909
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author 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
author_facet 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
author_sort Green, Joshua D
collection PubMed
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.
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spelling pubmed-75116372020-10-05 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 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 BMJ Open Epidemiology 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. BMJ Publishing Group 2020-09-18 /pmc/articles/PMC7511637/ /pubmed/32948566 http://dx.doi.org/10.1136/bmjopen-2020-037909 Text en © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Epidemiology
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
Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America
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
topic Epidemiology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7511637/
https://www.ncbi.nlm.nih.gov/pubmed/32948566
http://dx.doi.org/10.1136/bmjopen-2020-037909
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