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Familial Autoimmune Myasthenia Gravis: Four Patients Involving Three Generations

Published online by Cambridge University Press:  02 December 2014

R.A. Marrie ,
D.J. Sahlas  and
G.M. Bray
R.A. Marrie
Affiliation:
Division of Neurology, Montreal General Hospital, - McGill University, Health Centre, Montréal, Québec, Canada
D.J. Sahlas
Affiliation:
Division of Neurology, Montreal General Hospital, - McGill University, Health Centre, Montréal, Québec, Canada
G.M. Bray
Affiliation:
Division of Neurology, Montreal General Hospital, - McGill University, Health Centre, Montréal, Québec, Canada
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Abstract

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Background:

Familial autoimmune myasthenia gravis (MG) is rare, although a genetic role for the development of autoimmune MG is suggested by concordance in monozygotic twins and the increased frequency of other autoimmune diseases in family members of myasthenics.

Methods:

A patient with a family history of MG was evaluated in hospital. Relatives were interviewed and medical records examined for details regarding the diagnosis of MG in three other family members.

Results:

The index case first experienced symptoms of MG at age 75 years. She developed generalized MG and required corticosteroids and immunosuppressive therapy to control her disease. Her father developed predominantly bulbar symptoms of MG at age 75 years. He died of complications experienced following a gastrostomy placed for continued difficulty swallowing. His brother developed similar symptoms of MG in his early 60s and died shortly after thymectomy. A 46-year-old nephew of the index case is also beginning to exhibit signs of generalized MG. Acetylcholine receptor antibodies were strongly positive in the index case and her nephew. (The assay was not available for her father and uncle).

Conclusion:

Four individuals in three successive generations had diagnoses of autoimmune MG. Study of familial cases such as these may clarify the contribution of genetic factors to the development of this disease.

Résumé:

RÉSUMÉ:Introduction:

La myasthénie grave (MG) familiale autoimmune est rare, bien que la concordance chez les jumeaux monozygotes et la fréquence accrue d'autres maladies autoimmunes chez les membres de la famille des myasthéniques suggèrent que la génétique joue un rôle dans le développement de la MG autoimmune.

Méthodes:

Un patient ayant une histoire familiale de MG a été hospitalisé pour une évaluation. La parenté a été questionnée et les dossiers médicaux ont été examinés concernant le diagnostic de MG chez trois autres membres de la famille.

Résultats:

Le cas index a présenté les premiers symptômes de MG à 75 ans. Elle a développé une MG généralisée et a eu besoin de corticostéroïdes et d'un traitement immunosuppresseur pour contrôler sa maladie. Son père avait développé des symptômes d'une MG à prédominance bulbaire à l'âge de 75 ans. Il est décédé de complications suite à une gastrostomie pour pallier à la dysphagie. Son frère a développé des symptômes similaires au début de la soixantaine et est décédé peu après une thymectomie. Un neveu du cas index, âgé de 46 ans, commence à présenter des signes de MG généralisée. Les anticorps dirigés contre le récepteur de l'acétylcholine étaient fortement positifs chez le cas index et son neveu. (Le test n'était pas disponible pour le père et l'oncle).

Conclusions:

Quatre individus sur trois générations successives ont reçu un diagnostic de MG autoimmune. L'étude de cas familiaux comme ceux-ci peut aider à déterminer la contribution de facteurs génétiques dans le développement de cette maladie.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 27 , Issue 4 , November 2000 , pp. 307 - 310
Copyright
Copyright © The Canadian Journal of Neurological Sciences Inc. 2000

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