Cumulative jerk as an outcome measure in nonambulatory Duchenne muscular dystrophy

Fujii, Tatsuya; Takeshita, Eri; Iwata, Yasuyuki; Yajima, Hiroyuki; Nozaki, Fumihito; Mori, Mioko; Kumada, Takatsune

doi:10.1016/j.braindev.2019.06.002

Cited by 9 publications

(20 citation statements)

References 12 publications

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“…10,41,50 Estimates of the median (minimum-maximum) age at LOA ranged from 9.0 (6.0-12.0) years in 32 patients with skip 53-amenable pathogenic variants 36,40,42,49,50,[53][54][55] to 12.0 (7.0-13.0) years in 8 patients with skip 55-amenable variants (Figure S1). 45,49,53 Among the subset treated with corticosteroids, estimates ranged from 8.3 (8.0-8.5) years in two patients with pathogenic variants amenable to stop-codon readthrough 41,43 to 12 years in a patient with a skip 55-amenable variant. 53 Estimates of median age at LOA were presented from three large non-treatment-specific registries, 9,12,13 and one long-term study of ataluren treatment for patients with pathogenic variants amenable to stop-codon readthrough therapy (Figure 4B).…”

Section: Ambulatory Functionmentioning

confidence: 99%

The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review

Szabo¹,

Gooch

Mickle³

et al. 2021

Muscle and Nerve

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Duchenne muscular dystrophy (DMD) is associated with progressive muscle weakness, loss of ambulation (LOA), and early mortality. In this review we have synthesized published data on the clinical course of DMD by genotype. Using a systematic search implemented in Medline and Embase, 53 articles were identified that describe the clinical course of DMD, with pathogenic variants categorizable by exon skip or stop-codon readthrough amenability and outcomes presented by age. Outcomes described included those related to ambulatory, cardiac, pulmonary, or cognitive function. Estimates of the mean (95% confidence interval) age at LOA ranged from 9.1 (8.7-9.6) years among 90 patients amenable to skipping exon 53 to 11.5 (9.5-13.5) years among three patients amenable to skipping exon 8. Although function worsened with age, the impact of genotype was less clear for other outcomes (eg, forced vital capacity and left ventricular ejection fraction). Understanding the distribution of pathogenic variants is important for studies in DMD, as this research suggests major differences in the natural history of disease. In addition, specific details of the use of key medications, including corticosteroids, antisense oligonucleotides, and cardiac medications, should be reported.

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Section: Ambulatory Functionmentioning

confidence: 99%

The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review

Szabo¹,

Gooch

Mickle³

et al. 2021

Muscle and Nerve

View full text Add to dashboard Cite

show abstract

“…It has been shown that in ambulatory patients with DMD, accelerometry detected physical activity increases after corticosteroid use, sensed the natural history of DMD, and it was strongly correlated with the 6 MWT [10][11][12]. In other studies, accelerometry data was strongly correlated with the Brooke Scale, DMDSAT, and PUL Scale in non-ambulatory patients [9,13]. In patients with DMD of differing ambulation status accelerometry was moderately and strongly correlated with the 6 MWT and QMT, respectively [14,15].…”

Section: Introductionmentioning

confidence: 99%

“…The Jebsen Hand Function and 9-Hole Peg Tests require sustained concentration, which can challenge patients with DMD who have a relatively high prevalence of neuro-psychological comorbidities [8]. Other commonly used methods like the Brooke Scale, the DMD Functional Ability Self-Assessment Tool (DMDSAT), and the Performance of the Upper Limb (PUL) Scale measure upper extremity function at ordinal levels [9].…”

Section: Introductionmentioning

confidence: 99%

Assessing Physical Activity Using Accelerometers in Youth with Duchenne Muscular Dystrophy

Arteaga

Donnelly

Crum

et al. 2020

JND

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Background: Physical activity, assessed by accelerometers, has been proposed as a quantitative outcome measure for patients with DMD, but research is limited Objective: To assess the total amount and patterns of physical activity in patients with DMD using accelerometers. Methods: Physical activity was assessed in patients with DMD (n = 49, 13.6 ± 4.0-year-old) and age-and sex-matched healthy controls (n = 15, 14.0 ± 2.3-year-old) using wrist-and ankle-worn accelerometers. To assess the amount of activity, accelerometer recordings were converted into acceleration estimates (counts/min). Patterns of activity were assessed as the time that participants spent in sedentary, low-intensity, and moderate-to-vigorous physical activity categories. The sedentary category was divided into three (sedentary-1,-2, and-3) and the low-intensity into two (low-intensity-1, and-2) subcategories. Results: Physical activity across intensity categories differed between study groups (p < 0.001). Patients with DMD spent on average 98.8% of their daytime in the sedentary and low-intensity categories. Compared to non-ambulatory, ambulatory patients spent more time in sedentary-3 and low-intensity-2 subcategories (p < 0.001). Amount of activity was lower in all patients than controls (p < 0.05) and in non-ambulatory than ambulatory patients and controls (p < 0.001), but similar between ambulatory patients and controls. Activity measures in patients were significantly affected by age and ambulation status (p < 0.05) but not corticosteroid use. Conclusion: Patients with DMD spent most of their daytime in sedentary and low-intensity activities. Dividing these intensities into three and two subcategories, respectively, allows better characterization of activity patterns in DMD. Ambulation status and age but not corticosteroid use affected activity measures in patients with DMD.

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“…Typical approaches to measuring skeletal muscle function and severity of disease are manual muscle testing, 9 hand‐held dynamometry, 10 timed activities, 11,12 performance‐based assessments, 13 patient‐reported scales, 14‐16 and muscle biopsy and MRI 17,18 . These methods have value in treatment assessment but also have shortcomings, including the need for volitional effort, possible insensitivity to small changes in strength or performance, unsuitability across all mobility levels, and inability to provide insight into the physiology underlying the loss of muscle strength 6,19‐22 . Adding evoked contractions to an assessment protocol of muscle function has the potential to address these shortcomings.…”

Section: Introductionmentioning

confidence: 99%

“…17,18 These methods have value in treatment assessment but also have shortcomings, including the need for volitional effort, possible insensitivity to small changes in strength or performance, unsuitability across all mobility levels, and inability to provide insight into the physiology underlying the loss of muscle strength. 6,[19][20][21][22] Adding evoked contractions to an assessment protocol of muscle function has the potential to address these shortcomings.…”

Section: Introductionmentioning

confidence: 99%

Voluntary and magnetically evoked muscle contraction protocol in males with Duchenne muscular dystrophy: Safety, feasibility, reliability, and validity

et al. 2021

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Introduction/Aims Clinical trials addressing treatments for Duchenne muscular dystrophy (DMD) require reliable and valid measurement of muscle contractile function across all disease severity levels. In this work we aimed to evaluate a protocol combining voluntary and evoked contractions to measure strength and excitability of wrist extensor muscles for safety, feasibility, reliability, and discriminant validity between males with DMD and controls. Methods Wrist extensor muscle strength and excitability were assessed in males with DMD (N = 10; mean ± standard deviation: 15.4 ± 5.9 years of age), using the Brooke Upper Extremity Rating Scale (scored 1‐6), and age‐matched healthy male controls (N = 15; 15.5 ± 5.0 years of age). Torque and electromyographic (EMG) measurements were analyzed under maximum voluntary and stimulated conditions at two visits. Results A protocol of multiple maximal voluntary contractions (MVCs) and evoked twitch contractions was feasible and safe, with 96% of the participants completing the protocol and having a less than 7% strength decrement on either measure for both DMD patients and controls (P ≥ .074). Reliability was excellent for voluntary and evoked measurements of torque and EMG (intraclass correlation coefficient [ICC] over 0.90 and over 0.85 within and between visits, respectively). Torque, EMG, and timing of twitch‐onset measurements discriminated between DMD and controls (P < .001). Twitch contraction time did not differ significantly between groups (P = .10). Discussion Findings from this study show that the protocol is a safe, feasible, reliable, and a valid method to measure strength and excitability of wrist extensors in males with DMD.

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Cumulative jerk as an outcome measure in nonambulatory Duchenne muscular dystrophy

Cited by 9 publications

References 12 publications

The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review

The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review

Assessing Physical Activity Using Accelerometers in Youth with Duchenne Muscular Dystrophy

Voluntary and magnetically evoked muscle contraction protocol in males with Duchenne muscular dystrophy: Safety, feasibility, reliability, and validity

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