Thesis defense Saskia Houwen (Donders Series 609)

27 June 2023

Promotor: Prof. dr. M.A.A.P. Willemsen
Copromotors: Dr. I.J.M. de Groot, Dr. E.H.C. Cup

Duchenne muscular dystrophy: Future perspectives

This thesis describes a broad, but not exhaustive perspective on disease progression in people with Duchenne Muscular Dystrophy (DMD). DMD is an X-linked, progressive neuromuscular disease with many body functions involved in which disease progression is continuously changing due to new medical interventions. Moreover, disease progression has a large impact on activities and participation which result in many challenges for patients, caregivers, clinicians, and researchers. The first part of this thesis focused on a better understanding of disease course and its impact on daily activities and participation. This part included the following topics: research on the occurrence of a broad scale of symptoms in different disease stages, symptoms and participation in females with dystrophinopathy, the course of BMI and influence of caloric intake and loss of ambulation, the course of shortening of the long finger flexors which hinders hand function in later disease stages. The second part evaluates the current care in the Netherlands, considerations in wearing hand orthoses, and the effect of orthopedic interventions for people with DMD having foot deformities.
This thesis showed that a broad scope of symptoms are prevalent in the pediatric and adult male population, and in females with dystrophinopathy. Large part of these symptoms are burdening in daily activities and participation, we recommend clinicians to proactively address this broad scope of symptoms, to be able to better support people with dystrophinopathy. Besides, our studies on interventions showed that in current care the evaluation of an intervention can be improved. Overall, this thesis supports that assessing all patient-factors enhances understanding of the differences in disease course, compliance to treatment, and experience of symptoms. Moreover, in clinical practice, people with DMD may feel understood, which will improve the relationships with clinicians.