Balance control impairments in Fabry disease
BackgroundFabry disease (FD) is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. This deficiency leads to an accumulation of glycosphingolipids leading to progressive and multisystemic disease, including renal, cardiac, and neurological damage...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.856946/full |
| _version_ | 1818016294573703168 |
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| author | Laetitia Peultier-Celli Laetitia Peultier-Celli Roland Jaussaud Roland Jaussaud Pierre Kaminsky Pierre Kaminsky Joëlle Deibener-Kaminsky François Feillet Philippe Perrin Philippe Perrin Philippe Perrin |
| author_facet | Laetitia Peultier-Celli Laetitia Peultier-Celli Roland Jaussaud Roland Jaussaud Pierre Kaminsky Pierre Kaminsky Joëlle Deibener-Kaminsky François Feillet Philippe Perrin Philippe Perrin Philippe Perrin |
| author_sort | Laetitia Peultier-Celli |
| collection | DOAJ |
| description | BackgroundFabry disease (FD) is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. This deficiency leads to an accumulation of glycosphingolipids leading to progressive and multisystemic disease, including renal, cardiac, and neurological damages. FD may also have neuro-otological and visual impairments, which can generate postural control alterations, inner ear, and vision being involved in this function. This study aimed to evaluate the impact of FD on postural control.MethodsIn total, fourteen adult patients (8 men/6 women, mean age = 37.6 ± 11.4 years) and two children (mean age = 11 years) with FD and 19 healthy adults (12 men/7 women, mean age = 36.5 ± 16.9 years) and two healthy children (mean age = 10.5 years) took part in this study. Postural control was evaluated by a sensory organization test combining three visual situations (eyes open, eyes closed, and sway referenced visual surround motion) with two platform situations (stable platform and sway referenced platform motion), aiming to calculate a composite equilibrium score (CES), a high score being representative of good postural control. Somatosensory (RSOM), visual (RVIS), and vestibular (RVEST) contributions to postural control were calculated, a low score reflecting a poor use of the indicated sensory input.ResultsThe CES was lower in adult patients with FD compared with the healthy subjects (p < 0.001). RVIS (p = 0.001) and RVEST (p = 0.003) were lower in patients with FD compared with the control group, whereas no difference in RSOM was observed.ConclusionInner ear and visual pathologies associated with the central nervous system impairments are factors of postural control impairments. Physical activities, which can also be rehabilitative, by maintaining or increasing the weight of proprioception, may help diminish dependency on altered sensorial inputs. |
| first_indexed | 2024-04-14T07:10:19Z |
| format | Article |
| id | doaj.art-486d5a9d8f28423e87c028f37922cae5 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-04-14T07:10:19Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-486d5a9d8f28423e87c028f37922cae52022-12-22T02:06:27ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-09-011310.3389/fneur.2022.856946856946Balance control impairments in Fabry diseaseLaetitia Peultier-Celli0Laetitia Peultier-Celli1Roland Jaussaud2Roland Jaussaud3Pierre Kaminsky4Pierre Kaminsky5Joëlle Deibener-Kaminsky6François Feillet7Philippe Perrin8Philippe Perrin9Philippe Perrin10EA 3450 DevAH - Development, Adaptation and Handicap, Faculty of Medicine, University of Lorraine, Vandoeuvre-lès-Nancy, FranceLaboratory for the Analysis of Posture, Equilibrium and Motor Function (LAPEM), University Hospital of Nancy, Vandoeuvre-lès-Nancy, FranceEA 3450 DevAH - Development, Adaptation and Handicap, Faculty of Medicine, University of Lorraine, Vandoeuvre-lès-Nancy, FranceDepartment of Internal Medicine and Clinical Immunology, Vandoeuvre-lès-Nancy, FranceEA 3450 DevAH - Development, Adaptation and Handicap, Faculty of Medicine, University of Lorraine, Vandoeuvre-lès-Nancy, FranceDepartment of Internal Medicine and Clinical Immunology, Vandoeuvre-lès-Nancy, FranceDepartment of Internal Medicine and Clinical Immunology, Vandoeuvre-lès-Nancy, FranceReference Centre for Inborn Errors of Metabolism, Children Hospital, University Hospital of Nancy, Vandoeuvre-lès-Nancy, FranceEA 3450 DevAH - Development, Adaptation and Handicap, Faculty of Medicine, University of Lorraine, Vandoeuvre-lès-Nancy, FranceLaboratory for the Analysis of Posture, Equilibrium and Motor Function (LAPEM), University Hospital of Nancy, Vandoeuvre-lès-Nancy, FranceDepartment of Pediatric Oto-Rhino-Laryngology, University Hospital of Nancy, Vandoeuvre-lès-Nancy, FranceBackgroundFabry disease (FD) is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. This deficiency leads to an accumulation of glycosphingolipids leading to progressive and multisystemic disease, including renal, cardiac, and neurological damages. FD may also have neuro-otological and visual impairments, which can generate postural control alterations, inner ear, and vision being involved in this function. This study aimed to evaluate the impact of FD on postural control.MethodsIn total, fourteen adult patients (8 men/6 women, mean age = 37.6 ± 11.4 years) and two children (mean age = 11 years) with FD and 19 healthy adults (12 men/7 women, mean age = 36.5 ± 16.9 years) and two healthy children (mean age = 10.5 years) took part in this study. Postural control was evaluated by a sensory organization test combining three visual situations (eyes open, eyes closed, and sway referenced visual surround motion) with two platform situations (stable platform and sway referenced platform motion), aiming to calculate a composite equilibrium score (CES), a high score being representative of good postural control. Somatosensory (RSOM), visual (RVIS), and vestibular (RVEST) contributions to postural control were calculated, a low score reflecting a poor use of the indicated sensory input.ResultsThe CES was lower in adult patients with FD compared with the healthy subjects (p < 0.001). RVIS (p = 0.001) and RVEST (p = 0.003) were lower in patients with FD compared with the control group, whereas no difference in RSOM was observed.ConclusionInner ear and visual pathologies associated with the central nervous system impairments are factors of postural control impairments. Physical activities, which can also be rehabilitative, by maintaining or increasing the weight of proprioception, may help diminish dependency on altered sensorial inputs.https://www.frontiersin.org/articles/10.3389/fneur.2022.856946/fullFabry diseasepostural controlposturographycochleo-vestibular disordersrehabilitation |
| spellingShingle | Laetitia Peultier-Celli Laetitia Peultier-Celli Roland Jaussaud Roland Jaussaud Pierre Kaminsky Pierre Kaminsky Joëlle Deibener-Kaminsky François Feillet Philippe Perrin Philippe Perrin Philippe Perrin Balance control impairments in Fabry disease Frontiers in Neurology Fabry disease postural control posturography cochleo-vestibular disorders rehabilitation |
| title | Balance control impairments in Fabry disease |
| title_full | Balance control impairments in Fabry disease |
| title_fullStr | Balance control impairments in Fabry disease |
| title_full_unstemmed | Balance control impairments in Fabry disease |
| title_short | Balance control impairments in Fabry disease |
| title_sort | balance control impairments in fabry disease |
| topic | Fabry disease postural control posturography cochleo-vestibular disorders rehabilitation |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.856946/full |
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