Familial autoimmune myastenia gravis: four patients involving three generations

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.

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.

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).

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.