title: Quantitative analysis of upright standing in adults with late-onset Pompe disease.
abstract: Pompe disease is a rare disorder producing muscle weakness and progressive impairments in performing daily motor activities, such as walking and standing. Most studies have focused on dysfunctions at cellular level, restricting the examination of gross motor functions to qualitative or subjective rating scales evaluations. With the aim of providing an instrumented quantification of upright standing in Pompe disease, we used a force platform to measure the center of pressure over three foot positions and with eyes open and closed. Amplitude and variability of body sway were measured to determine the level of postural stability, while power spectrum analysis and nonlinear computations were performed to explore the structure of the postural control. In comparison with healthy participants, patients with Pompe disease showed a reduced level of postural stability, but irrelevant variations in frequency content and spatio-temporal structure of the sway motion were detected. Changes in foot position did not increase the postural instability associated with Pompe disease, but prominent worsening occurred in the patients when they stand with eyes closed, particularly along the anterior-posterior direction. These results provide objective elements to monitor deficiencies of upright standing in Pompe disease, emphasizing the specific contributions of sway direction and sensory deficits.
authors.affiliation: Gait and Posture Analysis Laboratory, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
authors.forename: Maria Stella
authors.initials: MS
authors.lastname: Valle
authors.affiliation: Gait and Posture Analysis Laboratory, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
authors.forename: Antonino
authors.initials: A
authors.lastname: Casabona
authors.affiliation: Regional Referral Center for Metabolic Diseases, Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, Italy.
authors.forename: Agata
authors.initials: A
authors.lastname: Fiumara
authors.affiliation: Regional Referral Center for Metabolic Diseases, Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, Italy.
authors.forename: Dora
authors.initials: D
authors.lastname: Castiglione
authors.affiliation: Regional Referral Center for Metabolic Diseases, Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Sorge
authors.affiliation: Gait and Posture Analysis Laboratory, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Cioni
mesh_terms: D000293:Adolescent; D000328:Adult; D006009:Glycogen Storage Disease Type II / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008954:Models, Biological; D009043:Motor Activity; D004856:Postural Balance; D011187:Posture