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2. The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins

Author

Claus, Clothilde, Slavin, Moriya, Ansseau, Eugénie, Lancelot, Céline, Bah, Karimatou, Lassche, Saskia, Fiévet, Manon, Greco, Anna, Tomaiuolo, Sara, Tassin, Alexandra, Dudome, Virginie, Kusters, Benno, Declèves, Anne-Emilie, Laoudj-Chenivesse, Dalila, van Engelen, Baziel G. M., Nonclercq, Denis, Belayew, Alexandra, Kalisman, Nir, and Coppée, Frédérique

Published
2023
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4. A 5‐year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials.

Author

Kools, Joost, Vincenten, Sanne, van Engelen, Baziel G. M., Voet, Nicoline B. M., Merkies, Ingemar, Horlings, Corinne G. C., Voermans, Nicol C., and Mul, K.

Abstract

Introduction/Aims: The number of clinical trials in facioscapulohumeral muscular dystrophy (FSHD) is expected to increase in the near future. There is a need for clinical outcome assessments (COAs) that can capture disease progression over the relatively short time span of a clinical trial. In this study, we report the natural progression of FSHD and determine the feasibility of COAs for clinical trials. Methods: Genetically confirmed FSHD patients underwent various COAs at baseline and after 5 years. COAs consisted of the Motor Function Measure (MFM), manual muscle testing using the Medical Research Council score, six‐minute walk test, quantitative muscle strength assessment of the quadriceps muscle, clinical severity score, and FSHD evaluation score (FES). Statistical significance and the minimal clinically important difference (MCID) were calculated and power calculations were performed. Results: One hundred fifty‐four symptomatic FSHD patients were included, with a mean (SD) age of 51.4 (14.6) years old. All COAs showed a minimal, yet statistically significant progression after 5 years. MCID was reached for the MFM Domain 1, MFM total score, and FES. These three COAs showed the lowest sample size requirements for clinical trials (185, 156, and 201 participants per group, respectively, for a trial duration of 2 years). Discussion: The captured FSHD disease progression rate in 5 years was generally minimal. The COAs in this study are not feasible for clinical trials with a duration of 2 years. Extended trial durations or novel outcome assessments might be necessary to improve trial feasibility in FSHD. [ABSTRACT FROM AUTHOR]

Published
2025
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8. Second intravenous immunoglobulin dose in patients with Guillain-Barré syndrome with poor prognosis (SID-GBS): a double-blind, randomised, placebo-controlled trial

Author

Walgaard, Christa, Jacobs, Bart C., Lingsma, Hester F., Steyerberg, Ewout W., Van den Berg, Bianca, Doets, Alexandra Y., Leonhard, Sonja E., Verboon, Christine, Huizinga, Ruth, Drenthen, Judith, Arends, Samuel, Kleine Budde, Ilona, Kleyweg, Ruud P., Kuitwaard, Krista, Van der Meulen, Marjon F.G., Samijn, Johnny P.A., Vermeij, Frederique H., Kuks, Jan B.M., Van Dijk, Gert W., Wirtz, Paul W., Eftimov, Filip, Van der Kooi, Anneke J., Garssen, Marcel P.J., Gijsbers, Cees J., De Rijk, Maarten C., Visser, Leo H., Blom, Roderik J., Linssen, Wim H.J.P., Van der Kooi, Elly L., Verschuuren, Jan J.G.M., Van Koningsveld, Rinske, Dieks, Rita J.G., Gilhuis, H. Job, Jellema, Korné, Van der Ree, Taco C., Bienfait, Henriette M.E., Faber, Karin G., Lovenich, Harry, Van Engelen, Baziel G.M., Groen, Rutger J., Merkies, Ingemar S.J., Van Oosten, Bob W., Van der Pol, W. Ludo, Van der Meulen, Willem D.M., Badrising, Umesh A., Stevens, Martijn, Breukelman, Albert-Jan J., Zwetsloot, Casper P., Van der Graaff, Maaike M., Wohlgemuth, Marielle, Hughes, Richard A.C., Cornblath, David R., Van Doorn, Pieter A., Althingh van Geusau, R.B., Van Boheemen, C.J.M., Bronner, I.M., Feenstra, B., Fokke, C., Hoogendoorn, T.A., Van Houten, R., Hovestad, A., Jansen, P.J.H.W., Keuter, E., Krudde, J., Linn, F.H.H., Lion, J., Manschot, S.M., Mellema, S.J., Molenaar, D.S.M., Nieuwkamp, D.J., Oenema, D.G., Van Oostrom, J.C.H., Van Orshoven, N.P., Van der Ploeg, R.J.O., Polman, S., Ruitenberg, A., Ruts, L., Schyns-Soeterboek, A.J.G.M., Trip, R., Jacobs, Bart C, Lingsma, Hester F, Steyerberg, Ewout W, van den Berg, Bianca, Doets, Alexandra Y, Leonhard, Sonja E, Budde, Ilona Kleine, Kleyweg, Ruud P, van der Meulen, Marjon F G, Samijn, Johnny P A, Vermeij, Frederique H, Kuks, Jan B M, van Dijk, Gert W, Wirtz, Paul W, van der Kooi, Anneke J, Garssen, Marcel P J, Gijsbers, Cees J, de Rijk, Maarten C, Visser, Leo H, Blom, Roderik J, Linssen, Wim H J P, van der Kooi, Elly L, Verschuuren, Jan J G M, van Koningsveld, Rinske, Dieks, Rita J G, Gilhuis, H Job, van der Ree, Taco C, Bienfait, Henriette M E, Faber, Catharina G, van Engelen, Baziel G M, Groen, Rutger J, Merkies, Ingemar S J, van Oosten, Bob W, van der Pol, W Ludo, van der Meulen, Willem D M, Badrising, Umesh A, Breukelman, Albert-Jan J, Zwetsloot, Casper P, van der Graaff, Maaike M, Hughes, Richard A C, Cornblath, David R, and van Doorn, Pieter A

Published
2021
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9. The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound.

Author

Vincenten, Sanne C. C., van Doorn, Jeroen L. M., Teeselink, Sjan, Rasing, Nathaniel B., Padberg, George W., Voermans, Nicol C., van Engelen, Baziel G. M., van Alfen, Nens, and Mul, Karlien

Abstract

Introduction/Aims: One of the most distinct clinical features of facioscapulohumeral muscular dystrophy (FSHD) is facial weakness. It leads to diminished facial expression and functional impairments. Despite its clinical relevance, little else is known about orofacial muscle involvement. We therefore evaluated orofacial muscle involvement in a sizeable cohort of FSHD participants with muscle ultrasound. Methods: Muscle ultrasound images of the following orofacial muscles were scored visually and quantitatively: depressor anguli oris (DAO), orbicularis oris (OO), buccinator, temporalis, masseter, digastric, zygomaticus major and minor bilaterally, and the geniohyoid. Reliability analyses of both visual and quantitative evaluations were performed. Ultrasound results were correlated with other measures: the FSHD clinical score, facial weakness score, and facial function scale. Results: We included 107 FSHD participants (male 54%; age 52 ± 14 years), of whom 92% showed signs of facial weakness. The reliability of visual ultrasound analysis varied widely (κ 0.0–1.0). Quantitative ultrasound reliability was high (intraclass correlation analysis ≥ 0.96). The DAO, buccinator, OO, temporalis, and zygomaticus minor muscles were affected most often (15%–39%). The digastric, geniohyoid, zygomaticus major, and masseter muscles were least often affected (<5%). The ultrasound compound score correlated weakly to moderately with other outcome measures used (ρ = 0.3–0.7). Discussion: This study adds to the understanding of orofacial weakness in FSHD, confirming the involvement of the muscles of facial expression in FSHD using ultrasound. We showed that orofacial muscle ultrasound is feasible and reliable when quantitatively assessed. Future studies should evaluate orofacial muscle ultrasound longitudinally, alongside clinical and patient‐reported facial weakness outcome measures, to assess their potential as outcome measures. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

Author

Draaisma, Fieke, Leenders, Erika K. S. M., Erasmus, Corrie E., Braakman, Hilde M. H., Burgers, Melanie C. J., Coppens, Catelijne H., Rinne, Tuula, Zenker, Martin, Tartaglia, Marco, Reintjes, Wesley, Voermans, Nicol C., van Engelen, Baziel G. M., van Alfen, Nens, and Draaisma, Jos M. T.

Abstract

Noonan syndrome (NS) is an autosomal dominant condition characterized by facial dysmorphism, congenital heart disease, development delay, growth retardation and lymphatic disease. It is caused by germline pathogenic variants in genes encoding proteins in the Ras/mitogen‐activated protein kinase signaling pathway. Nerve enlargement is not generally considered as a feature of NS, although some cases have been reported. High‐resolution nerve ultrasound enables detailed anatomical assessment of peripheral nerves and can show enlarged nerves. This retrospective cohort study aims to describe the sonographic findings of patients with NS performed during a 1‐year time period. Data on the degree of enlargement, the relation to increasing age, pain in extremities, genotype on the gene level and clinical features were collected. Twenty‐nine of 93 patients visiting the NS Center of Expertise of the Radboud University Medical Center Nijmegen underwent high‐resolution ultrasound. In 24 patients (83%) nerve enlargement was found. Most of them experienced pain. We observed a weak correlation with increasing age and the degree of nerve enlargement but no association with pain, genotype at the gene level or clinical features. This study shows that patients with NS have a high predisposition for sonographic nerve enlargement and that the majority experience pain. [ABSTRACT FROM AUTHOR]

Published
2024
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11. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands

Author

Longziekten, Other research (not in main researchprogram), van Kleef, Esmee S B, van de Camp, Sanne A J H, Groothuis, Jan T, Erasmus, Corrie E, Gaytant, Michael A, Vosse, Bettine A H, de Weerd, Willemien, Verschuuren-Bemelmans, Corien C, Medici-Van den Herik, Evita G, Wallgren-Pettersson, Carina, Küsters, Benno, Schouten, Meyke, van Engelen, Baziel G M, Ottenheijm, Coen A C, Doorduin, Jonne, Voermans, Nicol C, Longziekten, Other research (not in main researchprogram), van Kleef, Esmee S B, van de Camp, Sanne A J H, Groothuis, Jan T, Erasmus, Corrie E, Gaytant, Michael A, Vosse, Bettine A H, de Weerd, Willemien, Verschuuren-Bemelmans, Corien C, Medici-Van den Herik, Evita G, Wallgren-Pettersson, Carina, Küsters, Benno, Schouten, Meyke, van Engelen, Baziel G M, Ottenheijm, Coen A C, Doorduin, Jonne, and Voermans, Nicol C

Published
2024

12. Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

Author

Bouman, Karlijn, Groothuis, Jan T., Doorduin, Jonne, van Alfen, Nens, Udink ten Cate, Floris E. A., van den Heuvel, Frederik M. A., Nijveldt, Robin, van Tilburg, Willem C. M., Buckens, Stan C. F. M., Dittrich, Anne T. M., Draaisma, Jos M. T., Janssen, Mirian C. H., Kamsteeg, Erik-Jan, van Kleef, Esmee S. B., Koene, Saskia, Smeitink, Jan A. M., Küsters, Benno, van Tienen, Florence H. J., Smeets, Hubert J. M., van Engelen, Baziel G. M., Erasmus, Corrie E., and Voermans, Nicol C.

Published
2021
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13. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

Author

Kierkegaard, Marie, Okkersen, Kees, Jimenez-Moreno, Cecilia, Wenninger, Stephan, Daidj, Ferroudja, Glennon, Jeffrey, Cumming, Sarah, Littleford, Roberta, Monckton, Darren, Lochmüller, Hanns, Catt, Michael, Faber, Catharina, Hapca, Adrian, Donnan, Peter, Gorman, Gráinne, Bassez, Guillaume, Schoser, Benedikt, Knoop, Hans, Treweek, Shaun, van Engelen, Baziel, Maas, Daphne, Nikolaus, Stephanie, Cornelissen, Yvonne, van Nimwegen, Marlies, Klerks, Ellen, Bouman, Sacha, Heskamp, Linda, Heerschap, Arend, Rahmadi, Ridho, Groot, Perry, Heskes, Tom, Kapusta, Katarzyna, Abghari, Shaghayegh, Aschrafi, Armaz, Poelmans, Geert, Raaphorst, Joost, Trenell, Michael, van Laar, Sandra, Wood, Libby, Cassidy, Sophie, Newman, Jane, Charman, Sarah, Steffaneti, Renae, Taylor, Louise, Brownrigg, Allan, Day, Sharon, Atalaya, Antonio, Hogarth, Fiona, Schüller, Angela, Stahl, Kristina, Künzel, Heike, Wolf, Martin, Jelinek, Anna, Lignier, Baptiste, Couppey, Florence, Delmas, Stéphanie, Deux, Jean-François, Hankiewicz, Karolina, Dogan, Celine, Minier, Lisa, Chevalier, Pascale, Hamadouche, Amira, Adam, Berit, Hannah, Michael, McKenzie, Emma, Rauchhaus, Petra, Van Hees, Vincent, Catt, Sharon, Schwalber, Ameli, Merkies, Ingemar, Dittrich, Juliane, Monckton, Darren G, Faber, Catharina G, Donnan, Peter T, and van Engelen, Baziel G M

Published
2018
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18. NA-CONTROL: a study protocol for a randomised controlled trial to compare specific outpatient rehabilitation that targets cerebral mechanisms through relearning motor control and uses self-management strategies to improve functional capability of the upper extremity, to usual care in patients with neuralgic amyotrophy

Author

Lustenhouwer, Renee, van Alfen, Nens, Cameron, Ian G. M., Toni, Ivan, Geurts, Alexander C. H., Helmich, Rick C., van Engelen, Baziel G. M., and Groothuis, Jan T.

Published
2019
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19. Should we be careful with exercise in post-exertional malaise after long COVID?

Author

Saris, Christiaan G. J., van Engelen, Baziel G. M., Janssen, Mirian C. H., Kusters, Benno, Rodenburg, Richard J. T., Sluijs, David E., and Voet, Nicoline B. M.

Subjects
POST-acute COVID-19 syndrome, AEROBIC capacity, COVID-19, MUSCLE regeneration, CHRONIC fatigue syndrome, OXYGEN consumption
Abstract

The article in Nature Communications discusses post-exertional malaise in long COVID patients and the impact of exercise on their condition. The authors argue that strenuous exercise does not necessarily worsen symptoms and that proper training can improve mitochondrial density and oxidative capacity. They emphasize the need for further research and tailored therapies for long COVID patients. The study highlights the importance of supervised training at specialized centers to address decreased aerobic capacity in post-viral conditions. [Extracted from the article]

Published
2025
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20. Additional file 5 of The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins

Author

Claus, Clothilde, Slavin, Moriya, Ansseau, Eugénie, Lancelot, Céline, Bah, Karimatou, Lassche, Saskia, Fiévet, Manon, Greco, Anna, Tomaiuolo, Sara, Tassin, Alexandra, Dudome, Virginie, Kusters, Benno, Declèves, Anne-Emilie, Laoudj-Chenivesse, Dalila, van Engelen, Baziel G. M., Nonclercq, Denis, Belayew, Alexandra, Kalisman, Nir, and Coppée, Frédérique

Abstract

Additional file 5: Figure S4. DUX4c immunofluorescence intensity variation during primary myoblast differentiation time-course.

Published
2023
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21. Additional file 15 of The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins

Author

Claus, Clothilde, Slavin, Moriya, Ansseau, Eugénie, Lancelot, Céline, Bah, Karimatou, Lassche, Saskia, Fiévet, Manon, Greco, Anna, Tomaiuolo, Sara, Tassin, Alexandra, Dudome, Virginie, Kusters, Benno, Declèves, Anne-Emilie, Laoudj-Chenivesse, Dalila, van Engelen, Baziel G. M., Nonclercq, Denis, Belayew, Alexandra, Kalisman, Nir, and Coppée, Frédérique

Abstract

Additional file 15: Figure S14. Negative PLA controls in healthy and FSHD myofibers.

Published
2023
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22. Additional file 3 of The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins

Author

Claus, Clothilde, Slavin, Moriya, Ansseau, Eugénie, Lancelot, Céline, Bah, Karimatou, Lassche, Saskia, Fiévet, Manon, Greco, Anna, Tomaiuolo, Sara, Tassin, Alexandra, Dudome, Virginie, Kusters, Benno, Declèves, Anne-Emilie, Laoudj-Chenivesse, Dalila, van Engelen, Baziel G. M., Nonclercq, Denis, Belayew, Alexandra, Kalisman, Nir, and Coppée, Frédérique

Abstract

Additional file 3: Figure S2. Validation of the rat anti-DUX4c serum.

Published
2023
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23. Additional file 7 of The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins

Author

Claus, Clothilde, Slavin, Moriya, Ansseau, Eugénie, Lancelot, Céline, Bah, Karimatou, Lassche, Saskia, Fiévet, Manon, Greco, Anna, Tomaiuolo, Sara, Tassin, Alexandra, Dudome, Virginie, Kusters, Benno, Declèves, Anne-Emilie, Laoudj-Chenivesse, Dalila, van Engelen, Baziel G. M., Nonclercq, Denis, Belayew, Alexandra, Kalisman, Nir, and Coppée, Frédérique

Abstract

Additional file 7: Figure S6. DUX4c and laminin-α2 detection by co-immunofluorescence in FSHD muscle sections.

Published
2023
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24. Additional file 2 of The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins

Author

Claus, Clothilde, Slavin, Moriya, Ansseau, Eugénie, Lancelot, Céline, Bah, Karimatou, Lassche, Saskia, Fiévet, Manon, Greco, Anna, Tomaiuolo, Sara, Tassin, Alexandra, Dudome, Virginie, Kusters, Benno, Declèves, Anne-Emilie, Laoudj-Chenivesse, Dalila, van Engelen, Baziel G. M., Nonclercq, Denis, Belayew, Alexandra, Kalisman, Nir, and Coppée, Frédérique

Abstract

Additional file 2: Figure S1. DUX4C mRNAs and protein in muscle cells.

Published
2023
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25. Additional file 8 of The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins

Author

Claus, Clothilde, Slavin, Moriya, Ansseau, Eugénie, Lancelot, Céline, Bah, Karimatou, Lassche, Saskia, Fiévet, Manon, Greco, Anna, Tomaiuolo, Sara, Tassin, Alexandra, Dudome, Virginie, Kusters, Benno, Declèves, Anne-Emilie, Laoudj-Chenivesse, Dalila, van Engelen, Baziel G. M., Nonclercq, Denis, Belayew, Alexandra, Kalisman, Nir, and Coppée, Frédérique

Abstract

Additional file 8: Figure S7. DUX4c-desmin co-detection by immunofluorescence in FSHD muscles.

Published
2023
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26. Additional file 9 of The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins

Author

Claus, Clothilde, Slavin, Moriya, Ansseau, Eugénie, Lancelot, Céline, Bah, Karimatou, Lassche, Saskia, Fiévet, Manon, Greco, Anna, Tomaiuolo, Sara, Tassin, Alexandra, Dudome, Virginie, Kusters, Benno, Declèves, Anne-Emilie, Laoudj-Chenivesse, Dalila, van Engelen, Baziel G. M., Nonclercq, Denis, Belayew, Alexandra, Kalisman, Nir, and Coppée, Frédérique

Abstract

Additional file 9: Figure S8. DUX4c is immunodetected in regenerating myofibers.

Published
2023
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27. Additional file 6 of The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins

Author

Claus, Clothilde, Slavin, Moriya, Ansseau, Eugénie, Lancelot, Céline, Bah, Karimatou, Lassche, Saskia, Fiévet, Manon, Greco, Anna, Tomaiuolo, Sara, Tassin, Alexandra, Dudome, Virginie, Kusters, Benno, Declèves, Anne-Emilie, Laoudj-Chenivesse, Dalila, van Engelen, Baziel G. M., Nonclercq, Denis, Belayew, Alexandra, Kalisman, Nir, and Coppée, Frédérique

Abstract

Additional file 6: Figure S5. DUX4c detection by immunohistochemistry in muscle sections and histological alterations in FSHD muscles.

Published
2023
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28. Additional file 4 of The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins

Author

Claus, Clothilde, Slavin, Moriya, Ansseau, Eugénie, Lancelot, Céline, Bah, Karimatou, Lassche, Saskia, Fiévet, Manon, Greco, Anna, Tomaiuolo, Sara, Tassin, Alexandra, Dudome, Virginie, Kusters, Benno, Declèves, Anne-Emilie, Laoudj-Chenivesse, Dalila, van Engelen, Baziel G. M., Nonclercq, Denis, Belayew, Alexandra, Kalisman, Nir, and Coppée, Frédérique

Abstract

Additional file 4: Figure S3. Time-course of DUX4c expression in primary FSHD muscle cells.

Published
2023
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29. Effectiveness of an outpatient rehabilitation programme in patients with neuralgic amyotrophy and scapular dyskinesia: a randomised controlled trial

Author

Janssen, Renske M J, primary, Lustenhouwer, Renee, additional, Cup, Edith H C, additional, van Alfen, Nens, additional, Ijspeert, Jos, additional, Helmich, Rick C, additional, Cameron, Ian G M, additional, Geurts, Alexander C H, additional, van Engelen, Baziel G M, additional, Graff, Maud J L, additional, and Groothuis, Jan T, additional

Published
2023
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30. Facial Function Scale

Author

Mul, Karlien, primary, Wijayanto, Feri, additional, Loonen, Tom G. J., additional, Groot, Perry, additional, Vincenten, Sanne C. C., additional, Knuijt, Simone, additional, Groothuis, Jan T., additional, Maal, Thomas J. J., additional, Heskes, Tom, additional, Voermans, Nicol C., additional, and van Engelen, Baziel G. M., additional

Published
2023
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32. LAMA2-Related Muscular Dystrophy Across the Life Span.

Author

Bouman, Karlijn, Groothuis, Jan T., Doorduin, Jonne, van Alfen, Nens, Udink ten Cate, Floris E. A., den Heuvel, Frederik M. A. van, Nijveldt, Robin, Kamsteeg, Erik-Jan, Dittrich, Anne T. M., Draaisma, Jos M. T., Janssen, Mirian C. H., van Engelen, Baziel G. M., Erasmus, Corrie E., and Voermans, Nicol C.

Published
2023
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35. Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis

Author

van den Bersselaar, Luuk R, primary, Jungbluth, Heinz, additional, Kruijt, Nick, additional, Kamsteeg, Erik-Jan, additional, Fernandez-Garcia, Miguel A, additional, Treves, Susan, additional, Riazi, Sheila, additional, Malagon, Ignacio, additional, van Eijk, Lucas T, additional, van Alfen, Nens, additional, van Engelen, Baziel G M, additional, Scheffer, Gert-Jan, additional, Snoeck, Marc M J, additional, and Voermans, Nicol C, additional

Published
2022
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36. MRI in sarcoglycanopathies: a large international cohort study

Author

Tasca, Giorgio, Monforte, Mauro, Díaz-Manera, Jordi, Brisca, Giacomo, Semplicini, Claudio, D’Amico, Adele, Fattori, Fabiana, Pichiecchio, Anna, Berardinelli, Angela, Maggi, Lorenzo, Maccagnano, Elio, Løkken, Nicoline, Marini-Bettolo, Chiara, Munell, Francina, Sanchez, Angel, Alshaikh, Nahla, Voermans, Nicol C, Dastgir, Jahannaz, Vlodavets, Dmitry, Haberlová, Jana, Magnano, Gianmichele, Walter, Maggie C, Quijano-Roy, Susana, Carlier, Robert-Yves, van Engelen, Baziel G M, Vissing, John, Straub, Volker, Bönnemann, Carsten G, Mercuri, Eugenio, Muntoni, Francesco, Pegoraro, Elena, Bertini, Enrico, Udd, Bjarne, Ricci, Enzo, and Bruno, Claudio

Published
2018
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40. Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI Composite Scores for Longitudinal and Cross-sectional Analysis

Author

Mellion, Michelle L., Widholm, Per, Karlsson, Markus, Ahlgren, Andre, Tawil, Rabi, Wagner, Kathryn R., Statland, Jeffrey M., Wang, Leo, Shieh, Perry B., van Engelen, Baziel G. M., Kools, Joost, Ronco, Lucienne, Odueyungbo, Adefowope, Jiang, John, Han, Jay J., Hatch, Maya, Towles, Jeanette, Dahlqvist Leinhard, Olof, Cadavid, Diego, Mellion, Michelle L., Widholm, Per, Karlsson, Markus, Ahlgren, Andre, Tawil, Rabi, Wagner, Kathryn R., Statland, Jeffrey M., Wang, Leo, Shieh, Perry B., van Engelen, Baziel G. M., Kools, Joost, Ronco, Lucienne, Odueyungbo, Adefowope, Jiang, John, Han, Jay J., Hatch, Maya, Towles, Jeanette, Dahlqvist Leinhard, Olof, and Cadavid, Diego

Abstract

Background and Objectives Facioscapulohumeral muscular dystrophy (FSHD) is a rare, debilitating disease characterized by progressive muscle weakness. MRI is a sensitive assessment of disease severity and progression. We developed a quantitative whole-body (WB) musculoskeletal MRI (WB-MSK-MRI) protocol analyzing muscles in their entirety. This study aimed to assess WB-MSK-MRI as a potential imaging biomarker providing reliable measurements of muscle health that capture disease heterogeneity and clinically meaningful composite assessments correlating with severity and more responsive to change in clinical trials. Methods Participants aged 18-65 years, with genetically confirmed FSHD1, clinical severity 2 to 4 (Ricci scale, range 0-5), and >= 1 short tau inversion recovery-positive lower extremity muscle eligible for needle biopsy, enrolled at 6 sites and were imaged twice 4-12 weeks apart. Volumetric analysis of muscle fat infiltration (MFI), muscle fat fraction (MFF), and lean muscle volume (LMV) in 18 (36 total) muscles from bilateral shoulder, proximal arm, trunk, and legs was performed after automated atlas-based segmentation, followed by manual verification. A WB composite score, including muscles at highest risk for progression, and functional cross-sectional composites for correlation with relevant functional outcomes including timed up and go (TUG), FSHD-TUG, and reachable workspace (RWS), were developed. Results Seventeen participants enrolled in this study; 16 follow-up MRIs were performed at 52 days (range 36-85 days). Functional cross-sectional composites (MFF and MFI) showed moderate to strong correlations: TUG (rho = 0.71, rho = 0.83), FSHD-TUG (rho = 0.73, rho = 0.73), and RWS (left arm: rho = -0.71, rho = -0.53; right arm: rho = -0.61, rho = -0.65). WB composite variability: LMVtot, coefficient of variation (CV) 1.9% and 3.4%; MFFtot, within-subject SD (S-w) 0.5% and 1.5%; and MFItot (S-w), 0.3% and 0.4% for normal and intermediate muscles, resp, Funding Agencies|Fulcrum Therapeutics

Published
2022
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41. Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole-body fat-referenced MRI: Protocol development, multicenter feasibility, and repeatability

Author

Widholm, Per, Ahlgren, Andre, Karlsson, Markus, Romu, Thobias, Tawil, Rabi, Wagner, Kathryn R., Statland, Jeffrey M., Wang, Leo H., Shieh, Perry B., van Engelen, Baziel G. M., Cadavid, Diego, Ronco, Lucienne, Odueyungbo, Adefowope O., Jiang, John G., Mellion, Michelle L., Dahlqvist Leinhard, Olof, Widholm, Per, Ahlgren, Andre, Karlsson, Markus, Romu, Thobias, Tawil, Rabi, Wagner, Kathryn R., Statland, Jeffrey M., Wang, Leo H., Shieh, Perry B., van Engelen, Baziel G. M., Cadavid, Diego, Ronco, Lucienne, Odueyungbo, Adefowope O., Jiang, John G., Mellion, Michelle L., and Dahlqvist Leinhard, Olof

Abstract

Introduction/Aims Functional performance tests are the gold standard to assess disease progression and treatment effects in neuromuscular disorders. These tests can be confounded by motivation, pain, fatigue, and learning effects, increasing variability and decreasing sensitivity to disease progression, limiting efficacy assessment in clinical trials with small sample sizes. We aimed to develop and validate a quantitative and objective method to measure skeletal muscle volume and fat content based on whole-body fat-referenced magnetic resonance imaging (MRI) for use in multisite clinical trials. Methods Subjects aged 18 to 65 years, genetically confirmed facioscapulohumeral muscular dystrophy 1 (FSHD1), clinical severity 2 to 4 (Riccis scale, range 0-5), were enrolled at six sites and imaged twice 4-12 weeks apart with T1-weighted two-point Dixon MRI covering the torso and upper and lower extremities. Thirty-six muscles were volumetrically segmented using semi-automatic multi-atlas-based segmentation. Muscle fat fraction (MFF), muscle fat infiltration (MFI), and lean muscle volume (LMV) were quantified for each muscle using fat-referenced quantification. Results Seventeen patients (mean age +/- SD, 49.4 years +/- 13.02; 12 men) were enrolled. Within-patient SD ranged from 1.00% to 3.51% for MFF and 0.40% to 1.48% for MFI in individual muscles. For LMV, coefficients of variation ranged from 2.7% to 11.7%. For the composite score average of all muscles, observed SDs were 0.70% and 0.32% for MFF and MFI, respectively; composite LMV coefficient of variation was 2.0%. Discussion We developed and validated a method for measuring skeletal muscle volume and fat content for use in multisite clinical trials of neuromuscular disorders., Funding Agencies|Fulcrum Therapeutics

Published
2022
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42. Respiratory muscle function in patients with nemaline myopathy

Author

Longziekten, Other research (not in main researchprogram), van Kleef, Esmee S B, van Doorn, Jeroen L M, Gaytant, Michael A, de Weerd, Willemien, Vosse, Bettine A H, Wallgren-Pettersson, Carina, van Engelen, Baziel G M, Ottenheijm, Coen A C, Voermans, Nicol C, Doorduin, Jonne, Longziekten, Other research (not in main researchprogram), van Kleef, Esmee S B, van Doorn, Jeroen L M, Gaytant, Michael A, de Weerd, Willemien, Vosse, Bettine A H, Wallgren-Pettersson, Carina, van Engelen, Baziel G M, Ottenheijm, Coen A C, Voermans, Nicol C, and Doorduin, Jonne

Published
2022

43. Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole‐body fat‐referenced MRI : Protocol development, multicenter feasibility, and repeatability

Author

Widholm, Per, primary, Ahlgren, André, additional, Karlsson, Markus, additional, Romu, Thobias, additional, Tawil, Rabi, additional, Wagner, Kathryn R., additional, Statland, Jeffrey M., additional, Wang, Leo H., additional, Shieh, Perry B., additional, van Engelen, Baziel G. M., additional, Cadavid, Diego, additional, Ronco, Lucienne, additional, Odueyungbo, Adefowope O., additional, Jiang, John G., additional, Mellion, Michelle L., additional, and Dahlqvist Leinhard, Olof, additional

Published
2022
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49. Myotonic dystrophy type 1: A comparison between the adult‐ and late‐onset subtype.

Author

Joosten, Isis B.T., Horlings, Corinne G. C., Vosse, Bettine A. H., Wagner, Anouk, Bovenkerk, David S. H., Evertz, Reinder, Vernooy, Kevin, van Engelen, Baziel G. M., and Faber, Catharina G.

Abstract

Introduction/Aims: Although the extent of muscle weakness and organ complications has not been well studied in patients with late‐onset myotonic dystrophy type 1 (DM1), adult‐onset DM1 is associated with severe muscle involvement and possible life‐threatening cardiac and respiratory complications. In this study we aimed to compare the clinical phenotype of adult‐onset vs late‐onset DM1, focusing on the prevalence of cardiac, respiratory, and muscular involvement. Methods: Data were prospectively collected in the Dutch DM1 registry. Results: Two hundred seventy‐five adult‐onset and 66 late‐onset DM1 patients were included. Conduction delay on electrocardiogram was present in 123 of 275 (45%) adult‐onset patients, compared with 24 of 66 (36%) late‐onset patients (P =.218). DM1 subtype did not predict presence of conduction delay (odds ratio [OR] 0.706; confidence interval [CI] 0.405 to 1.230, P =.219). Subtype did predict indication for noninvasive ventilation (NIV) (late onset vs adult onset: OR, 0.254; CI, 0.104 to 0.617; P =.002) and 17% of late‐onset patients required NIV compared with 40% of adult‐onset patients. Muscular Impairment Rating Scale (MIRS) scores were significantly different between subtypes (MIRS 1 to 3 in 66% of adult onset vs 100% of late onset [P <.001]), as were DM1‐activC scores (67 ± 21 in adult onset vs 87 ± 15 in late onset; P <.001). Discussion: Although muscular phenotype was milder in late‐onset compared with adult‐onset DM1, the prevalence of conduction delay was comparable. Moreover, subtype was unable to predict the presence of cardiac conduction delay. Although adult‐onset patients had an increased risk of having an NIV indication, 17% of late‐onset patients required NIV. Despite different muscular phenotypes, screening for multiorgan involvement should be equally thorough in late‐onset as in adult‐onset DM1. [ABSTRACT FROM AUTHOR]

Published
2023
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50. Muscle cramps and contractures: causes and treatment.

Author

Dijkstra, Jildou N., Boon, Eline, Kruijt, Nick, Brusse, Esther, Ramdas, Sithara, Jungbluth, Heinz, van Engelen, Baziel G. M., Walters, Jon, and Voermans, Nicol C.

Subjects
CONTRACTURE (Pathology), MUSCLE contraction, MUSCLE cramps, SYMPTOMS
Abstract

Muscle cramps are painful, sudden, involuntary muscle contractions that are generally selflimiting. They are often part of the spectrum of normal human physiology and can be associated with a wide range of acquired and inherited causes. Cramps are only infrequently due to progressive systemic or neuromuscular diseases. Contractures can mimic cramps and are defined as shortenings of the muscle resulting in an inability of the muscle to relax normally, and are generally myogenic. General practitioners and neurologists frequently encounter patients with muscle cramps but more rarely those with contractures. The main questions for clinicians are: (1) Is this a muscle cramp, a contracture or a mimic? (2) Are the cramps exercise induced, idiopathic or symptomatic? (3) What is/are the presumed cause(s) of symptomatic muscle cramps or contractures? (4) What should be the diagnostic approach? and (5) How should we advise and treat patients with muscle cramps or contractures? We consider these questions and present a practical approach to muscle cramps and contractures, including their causes, pathophysiology and treatment options. [ABSTRACT FROM AUTHOR]

Published
2023
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