Characterization of Gait and Postural Regulation in Late-Onset Pompe Disease

Schneider, Ilka; Zierz, Stephan; Schulze, Stephan; Delank, Karl‐Stefan; Laudner, Kevin G.; Brill, Richard; Schwesig, René

doi:10.3390/app10197001

Cited by 6 publications

(21 citation statements)

References 42 publications

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“…30,38 These authors found a greater amplitude and variability of postural sway in aLOPD compared with those in controls. However, these studies had some limitations (only 1 balance test trial was performed by the participants, whereas 3 trials are recommended 49 ) and small sample sizes (n = 5 vs 5 controls 38 and n = 16 30 ). It seems essential to systematically assess postural stability in aLOPD using reliable tools such as force platforms and standardized methods.…”

Section: Discussionmentioning

confidence: 90%

“…Two case series focused on spatiotemporal gait parameters. 29,30 Only 1 study compared the spatiotemporal, joint kinematic, and kinetic gait parameters of 12 aLOPD and 12 controls. 31 Locomotion Impairments…”

Section: Effect Of Physical Therapymentioning

confidence: 99%

“…Schneider et al 30 studied standing balance in 16 aLOPD using force platforms. Experiments were conducted under 3 independent conditions: 3 head positions, 2 eye conditions, and 2 conditions with foam pads under the participants' feet.…”

Section: State Of Knowledge On Postural Control Postural Control Asse...mentioning

confidence: 99%

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Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Maulet¹,

Bonnyaud²,

Wéill³

et al. 2023

Neurology

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Background and objectives:Pompe disease is a rare neuromuscular disease caused by a deficiency of the lysosomal enzyme GAA. The late-onset of Pompe disease (LOPD) in adults is characterized by weakness of ventilatory, axial and proximal extremity muscles. These muscle impairments progressively impair various motor functions such as locomotion and postural control. Nearly 87% of adults with LOPD report walking problems and over 80% report instability and falls. Knowledge of these motor functions is now sufficient to provide a clear and comprehensive overview of motor function in adults with LOPD. Therefore, this scoping review aimed to summarize current knowledge about motor function in adults with LOPD. It specifically targeted neuromuscular performance, locomotion and postural control.Methods:A systematic search in MEDLINE (via PubMed), EMBASE and Cochrane databases was conducted until May 2021. We included studies providing primary data on at least four participants exploring neuromuscular performance, locomotion and/or postural control in adults with LOPD. Risk of bias analysis was assessed using tools appropriate to the study designs; ROB 2.0 for randomized controlled trials, ROBIN-I for non-randomized interventional trials, and NOS for cohort studies and case controls.Results:The search identified 2,885 articles. After screening, 58 articles were included in the analysis. In these studies, 88% explored locomotion, 83% neuromuscular performance and 3% postural control. This review showed that adults with LOPD have symmetrical weakness, concerning especially the hip and lumbar muscles. Locomotor activities are limited with a distance reduction, spatiotemporal gait parameter modification and an increased pelvic drop and tilt. Balance disorders are also observed especially in the anteroposterior direction.Discussion:We performed the first review on motor function characteristics in adults with LOPD. Although a significant amount of knowledge was synthesized in this review, our study also highlighted the lack of current research on this topic. Maximal muscle strength was the only neuromuscular performance studied and gait biomechanics and postural control were poorly explored in LOPD. Relationships between the degree of muscle weakness and motor function alterations also remains to be determined in adults with LOPD.

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Section: Discussionmentioning

confidence: 90%

Section: Effect Of Physical Therapymentioning

confidence: 99%

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Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Maulet¹,

Bonnyaud²,

Wéill³

et al. 2023

Neurology

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“…All tasks were conducted with the subjects head in a neutral alignment (vestibular). Detailed information about the calculated parameters and used test positions can be found in previous research [14][15][16][17]. All measurements were conducted at the same time of day and in a quiet room without any distractions.…”

Section: Study Design and Methodologymentioning

confidence: 99%

Comparison of Postural Stability and Regulation among Female Athletes from Different Sports

et al. 2021

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The aim of this study was to evaluate the postural regulation of female athletes who participate in different sports under normal and high-demand conditions. Fifty-nine female athletes were classified into four specific groups based on their individual sport, which included basketball (n = 16), gymnastics (n = 10), ski jumping (n = 13), diving (n = 8), and one group of recreational athletes (n = 12). These groups were then compared using several posturographic tests under four bipedal conditions: eyes open or closed and on a stable surface or foam pad. While there were some differences between groups standing in the less demanding positions (stable surface), the higher demanding positions (unstable surface-foam pads) showed significant differences between the technical sports (ski jumping, diving, and gymnastics) and basketball and recreational athletes. Most (50%, 6/12) of significant differences were provided by sports. In contrast, the predictors age, weight, and height played only a minor role within the covariance analysis. The largest effect by sports was detected for the anterior-posterior weight distribution standing on foam pads with closed eyes (p = 0.015, ηp2 = 0.211). Ski jumping and recreational athletes showed the largest (p = 0.011) partial difference by sports for this parameter and test position. According to the parameters, the weight distribution index (WDI) was the variable with the most significant effects (50%, 6/12). These results provide coaches and athletes with a more sport specific view on postural regulation and potentially assist in identifying deficits to improve sports performance and reduce the risk of injury.

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“…Accordingly, patients living with Pompe disease show extensive fiber- and contractile apparatus degeneration, leading to progressive muscle weakness and atrophy, as well as varying degrees of respiratory complications due to dysfunction of the diaphragm and of the intercostal muscles. In addition to the muscular weakness, patients with Pompe disease experience impairments in executing motor abilities, including postural instability and an unstable gait, in particular when visual input is missing 7 – 9 . The cause of the impaired motor control is unknown.…”

Section: Introductionmentioning

confidence: 99%

Degeneration of muscle spindles in a murine model of Pompe disease

Watkins¹,

Schultheiß²,

Rafuna³

et al. 2023

Sci Rep

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Pompe disease is a debilitating medical condition caused by a functional deficiency of lysosomal acid alpha-glucosidase (GAA). In addition to muscle weakness, people living with Pompe disease experience motor coordination deficits including an instable gait and posture. We reasoned that an impaired muscle spindle function might contribute to these deficiencies and therefore analyzed proprioception as well as muscle spindle structure and function in 4- and 8-month-old Gaa−/− mice. Gait analyses showed a reduced inter-limb and inter-paw coordination in Gaa−/− mice. Electrophysiological analyses of single-unit muscle spindle proprioceptive afferents revealed an impaired sensitivity of the dynamic and static component of the stretch response. Finally, a progressive degeneration of the sensory neuron and of the intrafusal fibers was detectable in Gaa−/− mice. We observed an increased abundance and size of lysosomes, a fragmentation of the inner and outer connective tissue capsule and a buildup of autophagic vacuoles in muscle spindles from 8-month-old Gaa−/− mice, indicating lysosomal defects and an impaired autophagocytosis. These results demonstrate a structural and functional degeneration of muscle spindles and an altered motor coordination in Gaa−/− mice. Similar changes could contribute to the impaired motor coordination in patients living with Pompe disease.

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Characterization of Gait and Postural Regulation in Late-Onset Pompe Disease

Cited by 6 publications

References 42 publications

Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Motor Function Characteristics of Adults With Late-Onset Pompe Disease

Comparison of Postural Stability and Regulation among Female Athletes from Different Sports

Degeneration of muscle spindles in a murine model of Pompe disease

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