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Adjudication committee
- 1. opponent: Docent Anna Rostedt Punga, Uppsala University
- 2. opponent: Professor Elisabeth Farbu, Stavanger University Hospital
- 3. member of the adjudication committee: Professor Morten Carstens Moe, University of Oslo
Chair of the defence
Professor Petter Gjersvik, University of Oslo
Principal Supervisor
Professor Emerita Emilia Kerty, University of Oslo
Summary
Juvenile myasthenia gravis (JMG) is a rare autoimmune disease affecting the neuromuscular endplate, thus impairing the neuromuscular transmission giving fatigable muscle weakness. The disease is potentially lethal and correct diagnosis is essential since several treatment options including immunosuppressive medication and thymectomy, are available.
The overall aim of this thesis was to characterize the clinical aspects of JMG in Norway, especially focusing on symptoms, comorbidity, treatment and long-term outcome, as well as genetic risk factors.
JMG patients were identified through multiple strategies and 63 patients, classified as either prepubertal (<12 years) or postubertal (≤12 years) onset, were included in the clinical studies.
A stable incidence rate of JMG of 1.6 per million over the last 25 years were found, higher among females and higher in the postpubertal age group. The clinical symptoms were most often generalized, and the generalization typically occurred within 2 years from onset. Outcome was overall good, and seemed especially favourable among the prepubertal cases. A second autoimmune disease occurred in 1/3 of the patients and was the most frequent comorbidity. The long-term effect of thymectomy on the immune system was also studied. We found indications of a premature immunosenescence in the T cell compartment in thymectomized juvenile MG patients; however, no increase in infection rate, autoimmune comorbidity or cancer was seen.
Finally, concerning genetic risk factors, we identified a new risk allele, HLA-DRB1*04:04 in prepubertal onset JMG. HLA-B*08 known to be a major risk allele in early onset adult MG, was shown to be a risk allele in the postpubertal onset JMG group.
Additional information
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