Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Reachable workspace reflects dynamometer-measured upper extremity strength in facioscapulohumeral muscular dystrophy.

ABSTRACT: It is not known whether a reduction in reachable workspace closely reflects loss of upper extremity strength in facioscapulohumeral muscular dystrophy (FSHD). In this study we aimed to determine the relationship between reachable workspace and quantitative upper extremity strength measures.Maximal voluntary isometric contraction (MVIC) testing of bilateral elbow flexion and shoulder abduction by hand-held dynamometry was performed on 26 FSHD and 27 control subjects. In addition, Kinect sensor-based 3D reachable workspace relative surface areas (RSAs) were obtained. Loading (500-g weight) effects on reachable workspace were also evaluated.Quantitative upper extremity strength (MVIC of elbow flexion and shoulder abduction) correlated with Kinect-acquired reachable workspace RSA (R?=?0.477 for FSHD, P?=?0.0003; R?=?0.675 for the combined study cohort, P?

SUBMITTER: Han JJ

PROVIDER: S-EPMC4575235 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Reachable workspace reflects dynamometer-measured upper extremity strength in facioscapulohumeral muscular dystrophy.

Han Jay J JJ De Bie Evan E Nicorici Alina A Abresch Richard T RT Bajcsy Ruzena R Kurillo Gregorij G

Muscle & nerve 20150619 6

<h4>Introduction</h4>It is not known whether a reduction in reachable workspace closely reflects loss of upper extremity strength in facioscapulohumeral muscular dystrophy (FSHD). In this study we aimed to determine the relationship between reachable workspace and quantitative upper extremity strength measures.<h4>Methods</h4>Maximal voluntary isometric contraction (MVIC) testing of bilateral elbow flexion and shoulder abduction by hand-held dynamometry was performed on 26 FSHD and 27 control su ...[more]

PMID: 25786378

Similar Datasets

Longitudinal study of upper extremity reachable workspace in fascioscapulohumeral muscular dystrophy.

Project description:Facioscapulohumeral Dystrophy (FSHD) results in slowly progressive strength impairment, especially the upper extremities. Recent discoveries regarding pathophysiology have led to exciting novel therapeutic strategies. To further facilitate drug development, improved FSHD outcome measures that are functionally-relevant and sensitive to longitudinal change will be critical. Recently, a motion sensor (Kinect)-based upper extremity outcome called 'reachable workspace' that provides a quantitative reconstruction of an individual's reachability was developed. In this study, changes in reachable workspace were tracked upwards for five-years in 18 FSHD subjects. Results show -1.63 %/year decline in total reachable workspace (p = 0.144); with most notable decline in the above-the-shoulder level quadrants (upper-lateral Q3: -9.5 %/year, p < 0.001 and upper-medial Q1: -6.8 %/ year, p = 0.063) with no significant changes in the lower quadrants (Q2, Q4). Reachable workspace declined more significantly if the subjects were challenged with 500 g wrist weights: total reachable workspace: -1.82 %/year, p = 0.039; Q1: -7.20 %/year, p = 0.041; Q3: -8.09 %/year, p = 0.001. Importantly, reachable workspace outcome was also able to distinguish subgroups in FSHD: mildly- and severely-affected with essentially unchanging reachability over years, and moderately-affected who demonstrate the most detectable changes longitudinally. The study demonstrates utility for measuring declines in upper quadrant reachability, and provides enrichment/stratification of FSHD populations most likely to show treatment effects in clinical trials.

| S-EPMC6996236 | biostudies-literature

Reachable workspace in facioscapulohumeral muscular dystrophy (FSHD) by Kinect.

Project description:A depth-ranging sensor (Kinect) based upper extremity motion analysis system was applied to determine the spectrum of reachable workspace encountered in facioscapulohumeral muscular dystrophy (FSHD).Reachable workspaces were obtained from 22 individuals with FSHD and 24 age- and height-matched healthy controls. To allow comparison, total and quadrant reachable workspace relative surface areas (RSAs) were obtained by normalizing the acquired reachable workspace by each individual's arm length.Significantly contracted reachable workspace and reduced RSAs were noted for the FSHD cohort compared with controls (0.473?±?0.188 vs. 0.747?±?0.082; P?<?0.0001). With worsening upper extremity function as categorized by the FSHD evaluation subscale II?+?III, the upper quadrant RSAs decreased progressively, while the lower quadrant RSAs were relatively preserved. There were no side-to-side differences in reachable workspace based on hand-dominance.This study demonstrates the feasibility and potential of using an innovative Kinect-based reachable workspace outcome measure in FSHD.

| S-EPMC4233016 | biostudies-literature

Reachable workspace and performance of upper limb (PUL) in duchenne muscular dystrophy.

Project description:The Kinect-based reachable workspace relative surface area (RSA) is compared with the performance of upper limb (PUL) assessment in Duchenne muscular dystrophy (DMD).29 individuals with DMD (ages: 7-23; Brooke: 1-5) underwent both Kinect-based reachable workspace RSA and PUL assessments. RSAs were also collected from 24 age-matched controls. Total and quadrant RSAs were compared with the PUL total, shoulder-, middle-, and distal-dimension scores.The total reachable workspace RSA correlated well with the total PUL score (Spearman ? = -0.602; P < 0.001), and with each of the PUL dimensional scores: shoulder (? = -0.624; P < 0.001), middle (? = -0.564; P = 0.001), and distal (? = -0.630; P < 0.001). With quadrant RSA, reachability in a particular quadrant was closely associated with respective PUL dimensional-level function (lateral-upper quadrant for shoulder-, lateral-upper/lower quadrants for middle-, and lateral-lower quadrant for distal-level function).This study demonstrates concurrent validity of the reachable workspace outcome measure (RSA) with the DMD-specific upper extremity outcome measure (PUL).

| S-EPMC4779432 | biostudies-literature

Upper extremity 3-dimensional reachable workspace analysis in dystrophinopathy using Kinect.

Project description:An innovative upper extremity 3-dimensional (3D) reachable workspace outcome measure acquired using the Kinect sensor is applied toward Duchenne/Becker muscular dystrophy (DMD/BMD). The validity, sensitivity, and clinical meaningfulness of this novel outcome measure are examined.Upper extremity function assessment (Brooke scale and NeuroQOL questionnaire) and Kinect-based reachable workspace analyses were conducted in 43 individuals with dystrophinopathy (30 DMD and 13 BMD, aged 7-60 years) and 46 controls (aged 6-68 years).The reachable workspace measure reliably captured a wide range of upper extremity impairments encountered in both pediatric and adult, as well as ambulatory and non-ambulatory individuals with dystrophinopathy. Reduced reachable workspaces were noted for the dystrophinopathy cohort compared with controls, and they correlated with Brooke grades. In addition, progressive reduction in reachable workspace correlated directly with worsening ability to perform activities of daily living, as self-reported on the NeuroQOL.This study demonstrates the utility and potential of the novel sensor-acquired reachable workspace outcome measure in dystrophinopathy.

| S-EPMC4506893 | biostudies-literature

Upper girdle imaging in facioscapulohumeral muscular dystrophy.

Project description:BackgroundIn Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination. Our aim was to evaluate the pattern and degree of involvement of upper girdle muscles in FSHD compared with other muscle diseases with scapular girdle impairment.MethodsWe propose an MRI protocol evaluating neck and upper girdle muscles. One hundred-eight consecutive symptomatic FSHD patients and 45 patients affected by muscular dystrophies and myopathies with prominent upper girdle involvement underwent this protocol. Acquired scans were retrospectively analyzed.ResultsThe trapezius (100% of the patients) and serratus anterior (85% of the patients) were the most and earliest affected muscles in FSHD, followed by the latissimus dorsi and pectoralis major, whilst spinati and subscapularis (involved in less than 4% of the patients) were consistently spared even in late disease stages. Asymmetry and hyperintensities on short-tau inversion recovery (STIR) sequences were common features, and STIR hyperintensities could also be found in muscles not showing signs of fatty replacement. The overall involvement appears to be disease-specific in FSHD as it significantly differed from that encountered in the other myopathies.ConclusionsThe detailed knowledge of single muscle involvement provides useful information for correctly evaluating patients' motor function and to set a baseline for natural history studies. Upper girdle imaging can also be used as an additional tool helpful in supporting the diagnosis of FSHD in unclear situations, and may contribute with hints on the currently largely unknown molecular pathogenesis of this disease.

| S-EPMC4059711 | biostudies-literature

Upper Limb Rehabilitation in Facioscapulohumeral Muscular Dystrophy: A Patients' Perspective.

Project description:ObjectiveTo identify (1) what exercise modalities people living with facioscapulohumeral muscular dystrophy (FSHD) are undertaking in the community as a part of their ongoing rehabilitation and (2) what future research projects would gain the support of people with FSHD.DesignAn online questionnaire composed of open and closed questions. Conventional content analysis was used for open questions, and quantitative analysis was used for closed questions.SettingOnline questionnaire distributed to a United Kingdom FSHD registry.ParticipantsA total of 232 patients on the United Kingdom FSHD registry (N=232).InterventionsNone.Main outcome measuresNone.ResultsA response rate of 43.6% was achieved with 232 of 532 patients completing the survey. Despite 85.8% (n=199) of patients experiencing shoulder instability that affects daily living, only 44.4% (n=103) engaged with exercises targeting the upper body. The themes from the data were understanding of disease mechanism shaping exercise choice, lack of understanding about the condition and the benefit of exercise, support from professionals, barriers to exercise, and thoughts about future research. Participants (92.2%, n=214) agreed additional research into upper limb exercises is needed and felt a 3-month arm cycling intervention with monthly clinical visits and magnetic resonance imaging would be appropriate.ConclusionsExercise selection was variable among patients with FSHD, and lack of information, pain, fatigue, availability and access to facilities, cost, and time were identified as barriers to exercise. This may account for the limited engagement with upper limb rehabilitation despite the high percentage of shoulder instability in patients with FSHD. Further research is needed to develop evidence-based exercise interventions, and guidance for upper limb exercise prescription in FSHD, and patients are supportive of this.

| S-EPMC8683863 | biostudies-literature

Facioscapulohumeral muscular dystrophy.

Project description:Facioscapulohumeral muscular dystrophy (FSHD) is a common type of adult muscular dystrophy and is divided into types 1 and 2 based on genetic mutation. Clinically, both FSHD types often show asymmetric and progressive muscle weakness affecting initially the face, shoulder, and arms followed by the distal then proximal lower extremities. Approximately 95% of patients, termed FSHD1, have a deletion of a key number of repetitive elements on chromosome 4q35. The remaining 5%, termed FSHD2, have no deletion on chromosome 4q35. Nevertheless, both types share a common downstream mechanism, making it possible for future disease-directed therapies to be effective for both FSHD types.

| S-EPMC4239655 | biostudies-literature

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.

Project description:Facioscapulohumeral muscular dystrophy (FSHD) seems to be caused by a complex epigenetic disease mechanism as a result of contraction of the polymorphic macrosatellite repeat D4Z4 on chromosome 4qter. Currently, the exact mechanism causing the FSHD phenotype is still not elucidated. In this review, we discuss the genetic and epigenetic changes observed in patients with FSHD and the possible disease mechanisms that may be associated with FSHD pathogenesis.

| S-EPMC2650037 | biostudies-literature

Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy.

Project description:Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting roughly one in 8000 individuals. The complex underlying genetics and poor mechanistic understanding has caused a bottleneck in therapeutic development. Until the discovery of DUX4 and its causal role in FSHD, most trials were untargeted with limited results. Emerging approaches can learn from these early trials to increase their chance of success. Here, we explore the evolution of FSHD clinical trials from nonspecific anabolic or anti-inflammatory/oxidant strategies to cutting-edge molecular therapies targeting DUX4, and we discuss the importance of clinical outcome measures. With combined advances across multiple facets of FSHD research, the field is now poised to accelerate the process of therapeutic discovery and testing.

| S-EPMC8048701 | biostudies-literature

Facioscapulohumeral muscular dystrophy functional composite outcome measure.

Project description:INTRODUCTION:We developed an evaluator-administered functional facioscapulohumeral muscular dystrophy composite outcome measure (FSHD-COM) comprising patient-identified areas of functional burden for future clinical trials. METHODS:We performed a prospective observational study of 41 patients with FSHD at 2 sites. The FSHD-COM includes functional assessment of the legs, shoulders and arms, trunk, hands, and balance/mobility. We determined the test-retest reliability and convergent validity compared to established FSHD disease metrics. RESULTS:The FSHD-COM demonstrated excellent test-retest reliability (intraclass correlation coefficient [ICC] 0.96; subscale ICC range, 0.90-0.94). Cross-sectional associations between the FSHD-COM and disease duration, clinical severity, and strength were moderate to strong (Pearson correlation coefficient range |0.51-0.92|). DISCUSSION:The FSHD-COM is a disease-relevant, functional composite outcome measure suitable for future FSHD clinical trials that shows excellent test-retest reliability and cross-sectional associations to disease measures. Future directions include determining multisite reliability, sensitivity to change, and the minimal clinically important change in the FSHD-COM. Muscle Nerve, 2018.

| S-EPMC6066464 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data