Efficiency of a 3-week multicomponent rehabilitation on improving the function in a patient with Friedreich’s ataxia – a case report
Abstract
Introduction. Friedreich’s ataxia (FA) is an autosomal re-cessive neurodegenerative disease. Ataxia, as the cardinal symptom, affects the trunk, with swaying, imbalance, and falls, as well as the limbs, with increasing difficulty in ac-tivities of daily living. Physical therapy has been recog-nized as a means of managing physical symptoms and maximizing function in affected persons. To our knowledge, there are no studies that have evaluated the ef-fectiveness of proprioceptive neuromuscular facilitation (PNF) stabilization techniques in the rehabilitation of pa-tients with such a diagnosis. Case report. We present a 26-year-old female with FA who had severe truncal and limb ataxia, speech difficulty, and poor walking ability. During the three-week rehabilitation, an individually tai-lored physical therapy program based on PNF stabilization techniques was applied. The implemented rehabilitation program resulted in an overall functional improvement. The reduction in ataxia was registered according to the Scale for the Assessment and Rating of Ataxia (SARA). The Functional Independence Measure (FIM) instrument – a component of locomotion, revealed greater independ-ence in walking. Conclusion. A rehabilitation program based on PNF stabilization techniques may reduce ataxia and improve walking ability in patients with FA.
References
1. Harding IH, Lynch DR, Koeppen AH, Pandolfo M. Central Nerv-ous System Therapeutic Targets in Friedreich Ataxia. Hum Gene Ther 2020; 31(23‒24): 1226‒36.
2. Bonnechère B, Jansen B, Haack I, Omelina L, Feipel V, Van Sint Jan S, et al. Automated functional upper limb evaluation of pa-tients with Friedreich ataxia using serious games rehabilitation exercises. J Neuroeng Rehabil 2018; 15(1): 87.
3. Cook A, Giunti P. Friedreich's ataxia: clinical features, path-ogenesis and management. Br Med Bull 2017; 124(1): 19‒30.
4. Lynch DR, Schadt K, Kichula E, McCormack S, Lin KY. Friedreich Ataxia: Multidisciplinary Clinical Care. J Multidiscip Healthc 2021; 14: 1645‒58.
5. Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB. Clini-cal Management Guidelines Writing Group. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis 2014; 9: 184.
6. Tai G, Corben LA, Yiu EM, Milne SC, Delatycki MB. Progress in the treatment of Friedreich ataxia. Neurol Neurochir Pol 2018; 52(2): 129‒39.
7. Portaro S, Russo M, Bramanti A, Leo A, Billeri L, Manuli A, et al. The role of robotic gait training and tDCS in Friedrich ataxia rehabilitation: A case report. Medicine (Baltimore) 2019; 98(8): e14447.
8. Milne SC, Corben LA, Georgiou-Karistianis N, Delatycki MB, Yiu EM. Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review. Neurorehabil Neural Repair 2017; 31(7): 609‒22.
9. Ayvat E, Onursal Kılınç Ö, Ayvat F, Savcun Demirci C, Aksu Yıldırım S, Kurşun O, et al. The Effects of Exergame on Postur-al Control in Individuals with Ataxia: a Rater-Blinded, Ran-domized Controlled, Cross-over Study. Cerebellum 2022; 21(1): 64‒72.
10. Barbuto S, Kuo SH, Stein J. Investigating the Clinical Signifi-cance and Research Discrepancies of Balance Training in De-generative Cerebellar Disease: A Systematic Review. Am J Phys Med Rehabil 2020; 99(11): 989‒98.
11. He M, Zhang HN, Tang ZC, Gao SG. Balance and coordination training for patients with genetic degenerative ataxia: a system-atic review. J Neurol 2021; 268(10): 3690‒705.
12. Bohannon, Richard W. Reliability of Manual Muscle Testing: A Systematic Review. Isokin Exerc Sci 2018; 26(4): 245–52.
13. Bittmann FN, Dech S, Aehle M, Schaefer LV. Manual Muscle Testing-Force Profiles and Their Reproducibility. Diagnostics (Basel) 2020; 10(12): 996.
14. Perez-Lloret S, van de Warrenburg B, Rossi M, Rodríguez-Blázquez C, Zesiewicz T, Saute JAM, et al. Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recom-mendations. Mov Disord 2021; 36(2): 283‒97.
15. Brooker SM, Edamakanti CR, Akasha SM, Kuo SH, Opal P. Spinocerebellar ataxia clinical trials: opportunities and chal-lenges. Ann Clin Transl Neurol 2021; 8(7): 1543‒56.
16. Milne SC, Corben LA, Roberts M, Szmulewicz D, Burns J, Grobler AC, et al. Rehabilitation for ataxia study: protocol for a ran-domised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia. BMJ Open 2020; 10(12): e040230.
17. Matsugi A. Physical Therapy for Cerebellar Ataxia. In: Su-zuki T, editor. Neurological Physical Therapy [Internet]. London: IntechOpen; 2017 [cited 2022 Feb 28]. Available from: https://www.intechopen.com/chapters/54213 doi: 10.5772/67649
18. Kuciel M, Rutkowski S, Szary P, Kiper P, Rutkowska A. Effect of PNF and NDT bobath concepts in improving trunk motor control in ischemic stroke patients-a randomized pilot study. Med Rehabil 2021; 25(2): 4‒8.
19. Martin S, Kessler M. Neurologic intervention for physical thera-py. 3rd ed. St Louis: Elsevier Saunders; 2016.
20. Cayco CS, Gorgon EJR, Lazaro RT. Effects The efficacy of pro-prioceptive neuromuscular facilitation on balance, strength, and mobility of an older adult with chronic stroke: A case re-port. J Bodyw Mov Ther 2017; 21(4): 767‒74.
21. Ojoga F, Marinescu S. Physical therapy and rehabilitation for ataxic patients. Balneo Res J 2013; 4(2): 81–4.
22. Kim JI, Kang HW, Ji M, Hwang SS, Maeng GC. The effect of stabilizing reversal and rhythmic stabilisation in PNF on walking and balance in patients with stroke. KoreaScience 2018; 16(2): 195‒205.
23. Milne SC, Campagna EJ, Corben LA, Delatycki MB, Teo K, Church-yard AJ, et al. Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional inde-pendence in people with Friedreich ataxia. Arch Phys Med Rehabil 2012; 93(10): 1860‒3.
24. Daker-White G, Greenfield J, Ealing J. "Six sessions is a drop in the ocean": an exploratory study of neurological physiotherapy in idiopathic and inherited ataxias. Physiotherapy 2013; 99(4): 335‒40.
25. Reichl S, Weilbach F, Mehrholz J. Implementation of a gait center training to improve walking ability and vital parameters in in-patient neurological rehabilitation- a cohort study. J Neuroeng Rehabil 2020; 17(1): 38.
26. Marquer A, Barbieri G, Pérennou D. The assessment and treat-ment of postural disorders in cerebellar ataxia: a systematic re-view. Ann Phys Rehabil Med 2014; 57(2): 67‒78.