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Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2

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Abstract

This study aims to provide a detailed clinical characterization of a large cohort of myotonic dystrophy type 2 (DM2) patients investigating the influence of age and gender as modifying factors of DM2 phenotype. A retrospective study was conducted on 307 patients with genetically confirmed DM2. The following data were analyzed: (1) demographics, (2) clinical features (first symptom, muscular complaints, and multisystemic involvement), (3) diagnostics (serological tests, electromyography, and muscle biopsy). In this cohort (186 females, 121 males), a proximal weakness was the leading symptom at onset (55.4%), followed by myalgia (35.5%) and myotonia (25.4%). Proximal weakness was more common in women than men (64.9 vs. 43.8%, p = 0.0006), whereas being male was associated with higher odds for developing myalgia [OR 2.94 (95% CI 1.53–5.67)]. Patients with muscle weakness at onset were older than those with myalgia and myotonia (p < 0.0001), while each additional disease year was associated with 10% decrease in the odds of developing myotonia [OR 0.9 (95% CI 0.87–0.93)] and 6% decrease of myalgia [OR 0.94 (95% CI 0.91–0.97)]. Cataract and thyroid diseases occurred more frequently in women (p = 0.002 and p = 0.002, respectively). Early onset of DM2 is an independent risk factor for the occurrence of multisystemic involvement [OR 0.94 (95% CI 0.90–0.98)]. In this updated clinical description of DM2 emerges a profound gender and age influence on the phenotype, emphasizing that female gender and ageing may be associated with a higher disease burden. These age- and gender-specific differences should be considered in diagnostics, management, and future clinical studies of DM2.

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Acknowledgements

We thank all DM2 patients and family members for their long-term commitment and support for all our clinical studies. In particular, we thank for the strong and continuous support of the DM patient diagnosis subgroup of the Deutsche Gesellschaft für Muskelkranke e.V.

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Authors and Affiliations

  1. Friedrich-Baur-Institute, Department of Neurology, University Clinics Ludwig-Maximilians-University of Munich, Ziemssenstr. 1a, 80336, Munich, Germany

    Federica Montagnese, Stephan Wenninger & Benedikt Schoser

  2. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

    Stefania Mondello

  3. Institute of Human Genetics, Würzburg, Germany

    Wolfram Kress

Authors
  1. Federica Montagnese
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  2. Stefania Mondello
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  3. Stephan Wenninger
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  4. Wolfram Kress
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  5. Benedikt Schoser
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Corresponding author

Correspondence to Benedikt Schoser.

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Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethical standards

This study was carried in accordance with ethical standard as set out in the Declaration of Helsinki. The study was approved by the local ethic committee (Document no. 107-01,292-07,477-13).

Funding

No funding has been received for the present study.

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Montagnese, F., Mondello, S., Wenninger, S. et al. Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. J Neurol 264, 2472–2480 (2017). https://doi.org/10.1007/s00415-017-8653-2

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  • DOI: https://doi.org/10.1007/s00415-017-8653-2

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