Duchenne muscular dystrophy: Future perspectives

Tuesday 27 June 2023, 4:30 pm
PhD student
S.L.S. Houwen-van Opstal
prof. dr. M.A.A.P. Willemsen
dr. I.J.M. de Groot, dr. E.H.C. Cup

Duchenne muscular dystrophy (DMD) is an X-linked, progressive neuromuscular disorder involving many bodily functions and in which the disease progression is constantly changing due to new medical developments. The disease occurs mainly in men, but women can also have symptoms to a greater or lesser extent. Increasing life expectancy has created a new, relatively unknown population of adults with Duchenne muscular dystrophy.

This dissertation broadly describes the challenges faced by people with Duchenne while growing up and in their adult lives. The following topics were covered: symptoms in different disease stages, women with dystrophinopathy, weight progression and muscle shortening. In addition, this dissertation describes how care in the Netherlands meets international standards of care and existing interventions (the use of hand splints and foot surgery) were examined. This thesis gives us more tools for clinicians to support persons with DMD during their life course.

Saskia Houwen is a pediatric rehabilitation physician at Amalia Children’s Hospital, Radboudumc. Her clinical work is focused on children with neuromuscular diseases, and on adults with a dystrophinopathy. Besides her clinical and research tasks, she is a board member of Duchenne Center of the Netherlands and the Neuromuscular task force of the Dutch rehabilitation association.