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. 2022 Sep;66(3):336-339.
doi: 10.1002/mus.27559. Epub 2022 Apr 28.

Remote assessment of myotonic dystrophy type 1: A feasibility study

Johanna Hamel  1 , Peter D Creigh  1 , Jeanne Dekdebrun  1 , Katy Eichinger  1 , Charles A Thornton  1
Affiliations

Remote assessment of myotonic dystrophy type 1: A feasibility study

Johanna Hamel et al. Muscle Nerve. 2022 Sep.

Abstract

Introduction/aims: Remote study visits (RSVs) are emerging as important tools for clinical research. We tested the feasibility of using RSVs to evaluate patients with myotonic dystrophy type 1 (DM1), including remote quantitative assessment of muscle function, and we assessed correlations of remote assessments with patient-reported function.

Methods: Twenty three subjects with DM1 were consented remotely. Toolkits containing a tablet computer, grip dynamometer, and spirometer were shipped to participants. The tablets were loaded with software for video-conferencing and questionnaires about functional impairment, patient experience with technology, and willingness to participate in future remote studies. Grip strength, forced vital capacity, peak cough flow, timed-up-and-go (TUG), and grip myotonia (hand opening time) were determined during RSVs. We assessed correlations of remote assessments with patient-reported outcomes of muscle function and with CTG repeat size.

Results: All 23 subjects completed RSVs. 95% of participants were able to complete all components of the remote study. All toolkit components were returned upon completion. Grip strength and TUG demonstrated moderate to strong correlations with self-reported inventories of upper and lower extremity impairment, respectively (ρ = 0.7 and ρ = -0.52). A total of 91% of subjects expressed interest in participating in future RSVs.

Discussion: Results of this study support the feasibility of using portable devices and video-conferencing for remote collection of patient-reported outcomes and quantitative assessment of muscle function in DM1.

Keywords: muscle function; myotonic dystrophy; outcome measures; remote assessments; telemedicine.

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Conflict of interest statement

Disclosure of conflict of interest:

None of the authors has any conflict of interest to disclose.

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References

    1. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3’ end of a transcript encoding a protein kinase family member. Cell. 1992;69(2):385. - PubMed
    1. Harper P Myotonic Dystrophy. WB Saunders Company; London:. 2001.
    1. Cumming SA, Jimenez-Moreno C, Okkersen K, et al. Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. Neurology. 2019;93(10):e995–e1009. - PMC - PubMed
    1. Morales F, Couto JM, Higham CF, et al. Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. Hum Mol Genet. 2012;21(16):3558–3567. - PubMed
    1. Guidon AC, Amato AA. COVID-19 and neuromuscular disorders. Neurology. 2020;94(22):959–969. - PubMed

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