Click here to stream the public defence
Due to copyright issues, an electronic copy of the thesis must be ordered from the faculty. For the faculty to have time to process the order, the order must be received by the faculty at the latest 2 days before the public defence. Orders received later than 2 days before the defence will not be processed. After the public defence, please address any inquiries regarding the thesis to the candidate.
Trial Lecture – time and place
See Trial Lecture.
Adjudication committee
- First opponent: Senior Consultant Alfred Peter Born, Rigshospitalet Copenhagen, Denmark
- Second opponent: Professor II Karen Rosendahl, UiT - The Arctic University of Norway
- Third member and chair of the evaluation committee: Professor II Benedicte Paus, University of Oslo
Chair of the Defence
Professor II Mona Kristiansen Beyer, University of Oslo
Principal Supervisor
Senior Consultant Magnhild Rasmussen, Oslo University Hospital
Summary
Duchenne muscular dystrophy (DMD) is a rare, progressive neuromuscular disorder that mainly affects boys. Symptoms present in early childhood and life expectancy is severely reduced. Long-term treatment with glucocorticoids (GCs) is proven to delay disease progression in most patients and is recommended from early childhood.
The aims of this thesis were to identify individual molecular diagnoses, demography, selected clinical characteristics and variations in disease progression of paediatric DMD in Norway. Further, we aimed to explore the extent of adverse effects of long-term GC treatment in paediatric DMD on stature, pubertal development and bone health, and the possible impact of delayed skeletal maturation on the clinical evaluation of these effects
The study was designed as a nationwide population based cross-sectional study and recruited 78% of the DMD patients aged 0-18 years. The annual incidence rate was 1:4967 live male births. Molecular diagnoses were established for all participants. 80% were GC treated. The clinical observations highlighted the variability of disease progression.
Most of the GC treated boys suffered from short stature, pubertal delay and very low bone mineral density (BMD) Z-scores. The stunted growth and low BMD were highly related to significantly delayed bone age, correlating with age and duration of treatment. The results suggest that bone age delay should be considered in the management of short stature and poor bone health in GC treated DMD.
Bone age radiographs revealed a novel observation of significant discordance in maturation between the carpals and phalanges in more than 90% of the GC treated participants, suggesting a particularly detrimental effect of GCs on trabecular bone formation and maturation. The discordance correlated strongly with younger age at GC initiation. Further studies are needed to establish any connection between disturbed trabecular bone formation and the risk of vertebral fractures in GC treated DMD.
Additional information
Contact the research support staff.