The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report

Öz

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.

Anahtar Kelimeler

• Ataxia
• exercise
• coordination
• postural balance

Charlevoix Saguenay Otozomal Resesif Spastik Ataksiside (ARSACS) Fizyoterapi Programının Etkinliği: Bir Olgu Sunumu

Öz

Charlevoix Saguenay otozomal resesif spastik ataksiside (ARSACS) bir gen mutasyonunun neden olduğu nadir görülen nörodejeneratif bir hastalıktır. Bu hastalıkta serebellar, piramidal ve nöropatik semptomlar ortaya çıkmaktadır. Hasta 6 hafta boyunca güçlendirme, denge, propriyosepsiyon egzersizleri ve sanal gerçeklik uygulamalarını içeren haftada iki seans olan bir rehabilitasyon programına katıldı. Araştırmacılar tedaviden önce ve sonra üst ekstremite koordinasyon testi, alt ekstremite dayanıklılık testi ve denge testi yaptılar. Tüm ölçümlerdeki gelişmeler gözlemlendi ve kaydedildi.

Anahtar Kelimeler

• Ataksi
• egzersiz
• koordinasyon
• postural denge

Kaynakça

1. 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.
2. 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.
3. 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.
4. Bouchard JP, Richter A, Mathieu J, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscular disorders. 1998;8(7):474-9.
5. 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.
6. 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.
7. 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.
8. 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.

9. Kaleağası H. Friedreich ataksisi dışı otozomal resesif kalıtsal ataksiler. Parkinson Hastalığı ve Hareket Bozuklukları Dergisi. 2015;18(1-2):8-16.
10. Incecik F, Hergüner OM, Bisgin A. Autosomal-recessive spastic ataxia of Charlevoix-Saguenay: A Turkish child. Journal of Pediatric Neurosciences. 2018;13(3):355-57.
11. Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J. From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Orphanet journal of rare diseases. 2018;13(1): 165-72.
12. Toktaş H, Yaman F, Ulaşlı AM, Dündar Ü. Spinoserebellar ataksili bir olguda sanal gerçeklik rehabilitasyonu. Turkish Journal of Physical Medicine & Rehabilitation/Turkiye Fiziksel Tip ve Rehabilitasyon Dergisi. 2015;61(4):383-6.
13. Ilg W, Schatton C, Schicks J, Giese MA, Schöls L, Synofzik M. Video game-based coordinative training improves ataxia in children with degenerative ataxia. Neurology. 2012;79(20):2056-60.
14. Audet O, Bui HT, Allisse M, Comtois AS, Leone M. Assessment of the impact of an exercise program on the physical and functional capacity in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay: An exploratory study. Intractable & rare diseases research. 2018;7(3):164-171.
15. Wang RY, Huang FY, Soong BW, Huang SF, Yang YR. A randomized controlled pilot trial of game-based training in individuals with spinocerebellar ataxia type 3. Scientific reports. 2018;8(1):1-7.
16. Lessard I, Masterman V, Côté I, Gagnon C, Duchesne E. A rehabilitation program to increase balance and mobility in ataxia of Charlevoix-Saguenay: An exploratory study. PLOS ONE. 2022;17(12):e0279406.