Accès ouvert
2026
article
OpenAlex
Elisabeth C. M. de Laat, Jan T. Groothuis, Karlijn Bouman, Saskia L.S. Houwen-van Opstal et autres
BackgroundLAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are rare congenital muscle diseases characterized by slowly progressive proximal muscle weakness, spinal rigidity and respiratory insufficiency. The LAST STRONG study is a natural history study to identify suitable outcome measures and reach trial …
nl, us
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Accès ouvert
2025
article
OpenAlex
E. Fleerakkers, Maaike Pelsma, Yvonne D. Krom, Rianne.J. A. Hoek et autres
Contractures limit movement in Duchenne muscular dystrophy (DMD). Ankle contractures due to gastrocnemius (GNM) and/or soleus muscles (SM) shortening are common but the effect of GNM and SM contractures on physical functioning and whether asymmetry (difference left and right) has impact remain …
nl
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Accès ouvert
2025
article
OpenAlex
Saskia L.S. Houwen-van Opstal, Maaike Pelsma, Yolanda MEM van den Elzen, Laura JB Merkenhof et autres
BackgroundShortening of the long finger flexors (FDP) results in extension limitation of both wrist and fingers and can hinder important activities of the upper extremities in Duchenne muscular dystrophy (DMD). Early detection of FDP shortening is important for timely interventions, but reliable …
nl
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Accès ouvert
2025
article
OpenAlex
Joep Simons, A.J.R. De Bie Dekker, Rosanne Govaarts, Anna Sárközy et autres
Background: It has been known for long that females carrying pathogenic variants in the DMD gene often report symptoms and/or exhibit signs of the disease. However, a notable knowledge gap exists concerning the signs and symptoms of female carriers of other X-linked …
nl, gb, at
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Accès ouvert
2025
article
OpenAlex
Laura JB Merkenhof, Yvonne Veenhuizen, Elizabeth Vroom, Greet Sterenberg et autres
BackgroundFor people with Duchenne muscular dystrophy (DMD), the transition into their desired adulthood can be challenging.ObjectivesThis study aims to; (1) exploring the desired participation for (young) adults with Duchenne muscular dystrophy (DMD); (2) exploration of the view and role of parents in …
nl
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Accès ouvert
2024
article
OpenAlex
Jildou N. Dijkstra, Helena T.M. Boon, Anne Koekkoek, Rianne J.M. Goselink et autres
BACKGROUND AND OBJECTIVES: Facioscapulohumeral dystrophy (FSHD) is an inherited muscle disorder, with childhood onset in 20% of patients. Understanding the natural history of childhood FSHD and identifying clinical and functional outcome measures are crucial for clinical care and future trials. METHODS: In …
nl
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Accès ouvert
2024
article
OpenAlex
Nienke M. van de Velde, Yvonne D. Krom, J. Bongers, Rianne.J. A. Hoek et autres
Background: Duchenne and Becker muscular dystrophy lack curative treatments. Registers can facilitate therapy development, serving as a platform to study epidemiology, assess clinical trial feasibility, identify eligible candidates, collect real-world data, perform post-market surveillance, and collaborate in (inter)national data-driven initiatives. Objective: In …
nl
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Accès ouvert
2023
article
OpenAlex
Saskia L.S. Houwen-van Opstal, Menno van der Holst, Michèl A.A.P. Willemsen, E. Niks et autres
BACKGROUND: Shortening of the long finger flexors (Flexor Digitorum Profundus, FDPs) in Duchenne Muscular Dystrophy (DMD) causes reduced hand function. Until now, longitudinal studies on the natural course of the shortening of the FDPs are lacking, which impedes recommendations on timing and …
nl
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Accès ouvert
2022
article
OpenAlex
Saskia L.S. Houwen-van Opstal, Ramon O. Tak, Maaike Pelsma, Frederik M.A. van den Heuvel et autres
AIM: To study long-term disease course for females with early-onset dystrophinopathy, including common (female) symptoms, challenges in social participation, the need for care, and current healthcare management to support guideline development. METHOD: Twelve females with early-onset dystrophinopathy were followed for a median …
nl
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2022
article
OpenAlex
Saskia L.S. Houwen-van Opstal, Amity C. Timmer, A.M. Ten Ham, Allard J. F. Hosman et autres
BACKGROUND: Progressive equinovarus deformities are common in people with Duchenne Muscular Dystrophy (DMD); they may provoke pain, pressure spots, cause problems with wearing footwear, and may lead to an unstable sitting position. OBJECTIVE: Explore indications and compare complications and long-term outcomes after …
nl
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Accès ouvert
2022
article
OpenAlex
Saskia L.S. Houwen-van Opstal, Laura Rodwell, Daphne Bot, Anja Daalmeyer et autres
We aimed to investigate BMI-z course in patients with Duchenne muscular dystrophy (DMD) during transition to loss of ambulation, and to explore the contribution of caloric intake and corticosteroid use. A retrospective multicenter longitudinal study was conducted. First, analyses of characteristics at …
nl
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Accès ouvert
2021
article
OpenAlex
Saskia L.S. Houwen-van Opstal, Lotte Heutinck, Merel Jansen, Yvonne D. Krom et autres
INTRODUCTION/AIMS: As life expectancy improves for patients with Duchenne muscular dystrophy (DMD), new symptoms are likely to arise. This aims of this study are: (1) to explore the prevalence of a broad variety of symptoms in the various stages of DMD (with …
nl
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