High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study

Berends, Joost; Tieleman, A.A.; Horlings, Corinne G.C.; Smulders, Fran H.P.; Voermans, Nicol C.; Engelen, B.G.M. van; Raaphorst, Joost

doi:10.1016/j.nmd.2019.08.012

Cited by 13 publications

(4 citation statements)

References 36 publications

(51 reference statements)

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“…The median number of repetitions performed by our patients was 9, which is lower in comparison to literature data for healthy older adults aged 60-70 (14 repetitions) and 70-80 (12 repetitions). The risk of falls increases in healthy elderly with scores <11 (36), our results would then match the recently reported higher risk of falls in DM1 and DM2 (37). Nevertheless, we have not systematically assessed the frequency of falls in our cohort reported here.…”

Section: Discussionsupporting

confidence: 66%

Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2

Montagnese¹,

Rastelli²,

Khizanishvili³

et al. 2020

Front. Neurol.

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Introduction: Myotonic dystrophy type 2 (DM2) lacks disease-specific, validated, motor outcome measures (OMs), and patients' reported outcomes (PROs). This represents a limit for the monitoring of disease progression and treatment response. Our aim was to identify the most appropriate OMs to be translated in clinical practice and clinical trials on DM2. This study has been registered on clinicaltrials.gov NCT03603171 (https:// clinicaltrials.gov/ct2/show/NCT03603171).Methods: Sixty-six patients with genetically confirmed DM2 underwent a baseline and a follow-up visit after 1 year. The tested OMs included: hand opening time, pressure pain threshold (PPT), manual muscle testing (MMT), hand held dynamometry (HHD), scale for the assessment and rating of ataxia (SARA), quantitative motor function test (QMFT), gait stairs Gowers chair (GSGC), 30-s sit to stand test, functional index 2 (FI-2) and 6MWT. The PROs included DM1-Active-C, Rasch-built Pompe-specific activity scale (R-Pact), fatigue and daytime sleepiness (FDSS), brief pain inventory short form (BPI-sf), myotonia behavior scale (MBS), and the McGill pain questionnaire.Results: All patients completed the MBS and the results correlated well with the handopening time. The PPT showed a low reliability, no correlation with pain questionnaires, and did not differentiate patients with or without myalgia. Both muscle strength assessments, MMT and HHD, showed good construct validity. The QMFT showed an acceptable ceiling effect (14.5%), good convergent and differential validity and performed overall better than GSGC. The SARA score showed high flooring effect and is not useful in DM2. 6MWT proved a valid outcome measure in DM2. The 30-s sit to stand is a feasible test with good convergent validity, showing a flooring effect of 20% as it cannot be used in more severely affected patients. The FI-2 is time-consuming and has a high ceiling effect. At the 1-year visit the only assessments able to detect a worsening of DM2 were HHD, QMFT, and 6MWT, which are the most sensitive to change, and therefore clinically meaningful OMs in DM2. Conclusion:The clinical meaningful motor outcome measures that best depict the multifaceted phenotype of DM2 and its slow progression are MBS, MMT, or HHD (depending on the clinical setting), QMFT, and the 6MWT.

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Section: Discussionsupporting

confidence: 66%

Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2

Montagnese¹,

Rastelli²,

Khizanishvili³

et al. 2020

Front. Neurol.

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“…Myotonic dystrophy type 1 (DM1) is the most prevalent adult‐onset neuromuscular disorder in Canada and worldwide 1 . The frequency of falls is worrisome in individuals with DM1, 2–5 as they stumble or fall up to 10 times more often than healthy volunteers 4,6 . However, as stated by experts of the international Outcome Measures in Myotonic Dystrophy type 1 (OMMYD) initiative, 7–9 no outcome measure has been found to be suitable to assess balance in the DM1 population, and more research is needed to document the psychometric properties of potentially suitable existing tools.…”

Section: Introductionmentioning

confidence: 99%

Validity of the Mini‐BESTest in adults with myotonic dystrophy type 1

et al. 2020

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Introduction Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease that causes balance problems. The objective of this study was to assess the construct validity of the Mini‐BESTest among adults with DM1. Methods Fifty‐nine individuals with late‐onset or adult phenotypes of DM1 were recruited. Participants performed the Mini‐BESTest, 10‐Meter Walk Test (10mWT), 6‐Minute Walk Test (6MWT), and Timed Up & Go (TUG) and were questioned on their tendency to lose balance and whether they fell in the past month. Results Scores on the Mini‐BESTest were significantly different between phenotypes and CTG repeat numbers (P < .02). Significant correlations were found with the 10mWT, 6MWT, and the TUG (r = 0.77–0.84; P < .001). A cutoff score of 21.5 was found to identify fallers with 90% posttest accuracy. Discussion The Mini‐BESTest demonstrates evidence of construct validity when assessing balance in the DM1 population.

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“…People with DM1 also demonstrate impaired dynamic balance, mobility and walking speed 3,4 . The number of falls reported is eightfold higher than healthy controls, and 50% of them result in an injury 5 . Moreover, DM1 patients with a history of falling had more severe self‐reported muscle weakness and lower balance confidence.…”

Section: Introductionmentioning

confidence: 99%

Explanatory factors of dynamic balance impairment in myotonic dystrophy type 1

et al. 2022

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Introduction/Aims Myotonic dystrophy type 1 (DM1) is a neuromuscular disease affecting many systems and for which muscle weakness is one of the cardinal symptoms. People with DM1 also present with balance‐related impairments and high fall risk. The aim of this study was to explore explanatory factors of dynamic balance impairment in the DM1 population. Methods A secondary analysis of data collected as part of a larger study was performed. The Mini Balance Evaluation System Test (Mini‐BESTest) was used to assess dynamic balance. Age, sex, and CTG repeat length in blood were retrieved from medical records and research files. The maximal isometric muscle strength of five lower limb muscle groups (hip flexors and extensors, knee flexors and extensors, and ankle dorsiflexors) was quantitatively assessed as well as fatigue. Standard multiple regression analysis was used. Results Fifty‐two individuals (31 men) aged between 24 and 81 years were included. The final model explains 65.9% of the balance score; ankle dorsiflexor muscle strength was the strongest explanatory factor, followed by CTG repeat length, age and fatigue to a lesser extent. Discussion Dynamic balance is impaired in people with DM1. Results of this study suggest that rehabilitation interventions aimed at improving strength of the ankle dorsiflexors and managing fatigue could help to improve dynamic balance in this specific population.

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High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study

Cited by 13 publications

References 36 publications

Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2

Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2

Validity of the Mini‐BESTest in adults with myotonic dystrophy type 1

Explanatory factors of dynamic balance impairment in myotonic dystrophy type 1

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