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. 2024 Oct:43:44-52.
doi: 10.1016/j.nmd.2024.08.005. Epub 2024 Aug 17.

Comprehensive four-year disease progression assessment of myotonic dystrophy type 1

Leandre A la Fontaine  1 , Johanna E Bruijnes  2 , Fran Hp Smulders  3 , Carla Gorissen-Brouwers  4 , Ilse Ea Karnebeek  3 , Hilde Mh Braakman  5 , Sylvia Klinkenberg  2 , Karlien Mul  3 , Peter-Bram Ac 't Hoen  6 , Sander Mj van Kuijk  7 , Baziel Gm van Engelen  3 , Ingemar Sj Merkies  8 , Catharina G Faber  2
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Free article

Comprehensive four-year disease progression assessment of myotonic dystrophy type 1

Leandre A la Fontaine et al. Neuromuscul Disord. 2024 Oct.
Free article

Abstract

Myotonic dystrophy type 1 (DM1) is a heterogeneous neuromuscular disorder characterized by progressive muscle weakness and myotonia. This study investigates the progression of muscular strength and function over a four-year period. Patients with DM1 were examined at baseline and four years later. The following metrics were assessed over time: muscle strength (Medical Research Council-sumscore), hand-grip strength (Martin-Vigorimeter), hand-grip relaxation time (myotonia), and limitations in activities of daily living and (DM1ActivC questionnaire). A total of 648 patients entered the registry. Recruitment and follow-up is ongoing. In our manuscript, we focus on, 187 patients who were followed for 4 years. A significant decline in MRC sum score was observed, with distal muscles showing more deterioration. Hand-grip strength decreased significantly, with notable differences between sex and phenotype classified by disease onset. Surprisingly, an improvement of myotonia was observed. Follow-up analysis revealed a significant interaction between myotonia and grip-strength over time. Thus, the improvement in myotonia is likely explained by decreased in grip strength. Finally, there was a significant reduction in DM1ActivC score, indicating decreased activity and social participation. This study demonstrated variability in disease progression depending on sex, phenotype and disease status. This research demonstrates a nuanced pattern of disease progression, highlighting the need to combine different outcome measures to fully understand the complexity of DM1.

Keywords: DM1; Myotonic dystrophy type 1; Natural history; Outcome measures; Trial readiness.

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Conflict of interest statement

Declaration of competing interest L. la Fontaine reports no competing interests. J. Bruijnes reports no competing interests. F. Smulders reports no competing interests. C. Gorissen-Brouwers reports no competing interests. I. Karnebeek reports no competing interests. H. Braakman reports no competing interests. S. Klinkenberg reports no competing interests. K. Mul conducted consultancy services for Avidity Biosciences. All reimbursements were received by Radboudumc. Dr. Mul did not personally benefit financially from these activities. P ‘t Hoen received grants from the ZonMW foundation. All reimbursements were received by the Radboud university medical center. P. ‘t Hoen did not personally benefit financially from these activities. S. van Kuijk reports no competing interests. B. van Engelen received grants from the Prinses Beatrix Spierfonds. Consultancy services for Fulcrum, Avidity, Dyne, and Arrowhead. All reimbursements were received by Radboudumc. B van Engelen did not personally benefit from these activities. I. Merkies received grants from Grifols and Lamepro. Consultancy services for Talecris, CSL, Behring, Novartis, Octafarma, UCB and Argenx. I. Merkies did not personally benefit financially from these activities. C. Faber received grants from the Prinses Beatrix Spierfonds. Consultancy services for Biogen, Vertex, Olipass, and Sangamo. All reimbursements were received by MUMC+. C. Faber did not personally benefit financially from these activities.

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