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The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report
Abstract
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is a rare neurodegenerative disease caused by a gene mutation. Cerebellar, pyramidal, and neuropathic symptoms have appeared in this disease. The patient participated in a two-week rehabilitation program for six weeks, which included strengthening, balance, proprioception exercises, and virtual reality games. Researchers performed an upper extremity coordination test, lower extremity endurance test, and balance test before- after treatment. Improvements in all measurements were observed and recorded.
Keywords
References
- Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Canadian Journal of Neurological Sciences. 1978;5(1):61-69.
- Engert JC, Bérubé P, Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nature genetics. 2000;24(2):120-5.
- Pilliod J, Moutton S, Lavie J, et al. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Annals of Neurology. 2015;78(6):871-86.
- Bouchard JP, Richter A, Mathieu J, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscular disorders. 1998;8(7):474-9.
- Synofzik M, Soehn AS, Gburek-Augustat J, et al. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet journal of rare diseases. 2013;8(1):1-13.
- Vermeer S, Meijer RP, Pijl BJ, et al. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics. 2008;9(3):207-14.
- Kuchay RAH, Mir YR, Zeng X, et al. ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India. The Cerebellum. 2019;18(4):807-12.
- Vogel AP, Rommel N, Oettinger A, et al. Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Journal of neurology. 2018;265(9):2060-70.
Details
Primary Language
English
Subjects
Clinical Sciences
Journal Section
Case Report
Early Pub Date
April 29, 2023
Publication Date
April 29, 2023
Submission Date
August 8, 2022
Acceptance Date
January 10, 2023
Published in Issue
Year 2023 Number: 19
APA
Karabacak, N., & Sarı, Z. (2023). The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report. Istanbul Gelisim University Journal of Health Sciences, 19, 340-346. https://doi.org/10.38079/igusabder.1159162
AMA
1.Karabacak N, Sarı Z. The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report. IGUSABDER. 2023;(19):340-346. doi:10.38079/igusabder.1159162
Chicago
Karabacak, Neslihan, and Zubeyir Sarı. 2023. “The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report”. Istanbul Gelisim University Journal of Health Sciences, nos. 19: 340-46. https://doi.org/10.38079/igusabder.1159162.
EndNote
Karabacak N, Sarı Z (April 1, 2023) The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report. Istanbul Gelisim University Journal of Health Sciences 19 340–346.
IEEE
[1]N. Karabacak and Z. Sarı, “The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report”, IGUSABDER, no. 19, pp. 340–346, Apr. 2023, doi: 10.38079/igusabder.1159162.
ISNAD
Karabacak, Neslihan - Sarı, Zubeyir. “The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report”. Istanbul Gelisim University Journal of Health Sciences. 19 (April 1, 2023): 340-346. https://doi.org/10.38079/igusabder.1159162.
JAMA
1.Karabacak N, Sarı Z. The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report. IGUSABDER. 2023;:340–346.
MLA
Karabacak, Neslihan, and Zubeyir Sarı. “The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report”. Istanbul Gelisim University Journal of Health Sciences, no. 19, Apr. 2023, pp. 340-6, doi:10.38079/igusabder.1159162.
Vancouver
1.Neslihan Karabacak, Zubeyir Sarı. The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report. IGUSABDER. 2023 Apr. 1;(19):340-6. doi:10.38079/igusabder.1159162