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Peer-reviewedCC BY-NC 4.0Journal of Neuromuscular Diseases

Exploring the gut microbiome in children and young adults with myotonic dystrophy type 1

  • Anne M. van Uden1,2
  • Heidi Zweers3
  • Alejandro Arias Vasquez4
  • Derick G. Wansink2
  • Peter A. C. ’t Hoen2
  • Alem Gusinac2,5
  • Anja de Baaij-Daalmeyer3
  • Karlijn Gerrits3
  • Willem J. G. Melchers6
  • Baziel van Engelen7
  • Thomas H. A. Ederveen2
  • Hilde M. H. Braakman1
7 affiliations
  1. 1Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Amalia Children’s Hospital, Nijmegen, the Netherlands
  2. 2Department of Medical BioSciences, Radboud university medical center, Nijmegen, the Netherlands
  3. 3Department of Gastroenterology and Hepatology - Dietetics, Radboud university medical center, Nijmegen, The Netherlands
  4. 4Department of Psychiatry, Radboud university medical center, Nijmegen, the Netherlands
  5. 5Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands
  6. 6Department of Medical Microbiology, Radboud university medical center, Nijmegen, The Netherlands
  7. 7Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
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Abstract

Myotonic Dystrophy type 1 (DM1) is a complex multisystem disorder, and affected children commonly present with gastrointestinal and neurodevelopmental challenges. Despite the high prevalence of these symptoms, their underlying mechanisms remain poorly understood. The gut microbiome is known to be involved in gastrointestinal and neurodevelopmental disorders, and emerging research suggests that it could also play a contributory role in various neuromuscular diseases. However, the gut microbiota of children with DM1 remains unexplored. This pilot study compared gut microbiota profiles of 10 children and one young adult with DM1, to that of their unaffected siblings (n=11). Three-day food records and faecal samples were collected, and bacterial taxa were analysed through 16S rRNA marker-gene sequencing. A within-family paired-sample design accounted for potential confounders, such as diet and lifestyle. Results revealed that overall microbial diversity and community structure were similar between groups. Moreover, participants with DM1 showed a significant lower relative abundance of the bacterial genus Faecalibacterium (mean 4.9% ± 2.1%) compared to their unaffected siblings (mean 9.1% ± 4.4%)(p=0.005). This finding should be considered exploratory, as its univariate analysis was uncorrected for multiple testing. Faecalibacterium is a key gut bacterium, and reduced abundance has been reported in several DM1-associated gastrointestinal and neurodevelopmental disorders. Although causality cannot be inferred from this exploratory study the observed reduction may be relevant to gastrointestinal and neurodevelopmental challenges frequently seen in DM1. If larger further studies confirm its role, targeting Faecalibacterium relative abundance could become a potential therapeutic strategy for alleviating gastrointestinal and neurodevelopmental symptoms in DM1.

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Cite

BibTeXRIS
BibTeX
@article{uden2026exploring,
  title = {{Exploring the gut microbiome in children and young adults with myotonic dystrophy type 1}},
  author = {Anne M. van Uden and Heidi Zweers and Alejandro Arias Vasquez and Derick G. Wansink and Peter A. C. ’t Hoen and Alem Gusinac and Anja de Baaij-Daalmeyer and Karlijn Gerrits and Willem J. G. Melchers and Baziel van Engelen and Thomas H. A. Ederveen and Hilde M. H. Braakman},
  journal = {Journal of Neuromuscular Diseases},
  year = {2026},
  month = oct,
  doi = {10.1177/22143602261496624},
  url = {https://doi.org/10.1177/22143602261496624},
  note = {CC BY-NC 4.0},
}
RIS
TY  - JOUR
TI  - Exploring the gut microbiome in children and young adults with myotonic dystrophy type 1
AU  - Anne M. van Uden
AU  - Heidi Zweers
AU  - Alejandro Arias Vasquez
AU  - Derick G. Wansink
AU  - Peter A. C. ’t Hoen
AU  - Alem Gusinac
AU  - Anja de Baaij-Daalmeyer
AU  - Karlijn Gerrits
AU  - Willem J. G. Melchers
AU  - Baziel van Engelen
AU  - Thomas H. A. Ederveen
AU  - Hilde M. H. Braakman
PY  - 2026
DA  - 2026/10/26
JO  - Journal of Neuromuscular Diseases
DO  - 10.1177/22143602261496624
UR  - https://doi.org/10.1177/22143602261496624
AB  - Myotonic Dystrophy type 1 (DM1) is a complex multisystem disorder, and affected children commonly present with gastrointestinal and neurodevelopmental challenges. Despite the high prevalence of these symptoms, their underlying mechanisms remain poorly understood. The gut microbiome is known to be involved in gastrointestinal and neurodevelopmental disorders, and emerging research suggests that it could also play a contributory role in various neuromuscular diseases. However, the gut microbiota of children with DM1 remains unexplored. This pilot study compared gut microbiota profiles of 10 children and one young adult with DM1, to that of their unaffected siblings (n=11). Three-day food records and faecal samples were collected, and bacterial taxa were analysed through 16S rRNA marker-gene sequencing. A within-family paired-sample design accounted for potential confounders, such as diet and lifestyle. Results revealed that overall microbial diversity and community structure were similar between groups. Moreover, participants with DM1 showed a significant lower relative abundance of the bacterial genus Faecalibacterium (mean 4.9% ± 2.1%) compared to their unaffected siblings (mean 9.1% ± 4.4%)(p=0.005). This finding should be considered exploratory, as its univariate analysis was uncorrected for multiple testing. Faecalibacterium is a key gut bacterium, and reduced abundance has been reported in several DM1-associated gastrointestinal and neurodevelopmental disorders. Although causality cannot be inferred from this exploratory study the observed reduction may be relevant to gastrointestinal and neurodevelopmental challenges frequently seen in DM1. If larger further studies confirm its role, targeting Faecalibacterium relative abundance could become a potential therapeutic strategy for alleviating gastrointestinal and neurodevelopmental symptoms in DM1.
SN  - 2214-3599
SN  - 2214-3602
ER  -