A genetic study of infantile and juvenile myasthenia gravis

From the present study, and from reports in the literature, two forms of childhood myasthenia emerge. There is an early-onset form (with onset of symptoms under 2 years of age) where the illness is milder but more persistent, and where there is frequent occurrence of myasthenia in sibs. Such cases are likely to be inherited as an autosomal recessive, although it is possible that they represent the extreme edge of a multifactorial distribution of combined genetic and environmental aetiology. The second group (with onset of symptoms between the age of 2 and 20 years) clinically resembles adult myasthenia, which is associated with autoimmunity and an increased incidence of thyroid dysfunction. Some genetic contribution occurs in this form but it is less marked than with the early-onset cases and there is no recognizable pattern of inheritance. As secondary cases are even less common among the families of adult myasthenics, it is likely that individuals with most genetic predisposition to myasthenia tend to develop symptoms early, and that non-genetic factors are relatively more important for the development of myasthenia in adults.