3.3.R1 Recommendation
Monitoring
- Strength of recommendation:
- Strong for intervention
- Level of evidence:
- Very low
How the strength and level of evidence are graded
What the strength of a recommendation means
The strength of a recommendation reflects the extent to which a guideline panel is confident that desirable effects of an intervention outweigh undesirable effects, or vice versa, across the range of patients for whom the recommendation is intended.
Strong for (↑↑) or against (↓↓) intervention
For patients: Most individuals in this situation would want the recommended course of action and only a small proportion would not.
For clinicians: Most individuals should receive the recommended course of action.
Conditional for (↑) or against (↓) intervention
For patients: The majority of individuals in this situation would want the suggested course of action, but many would not.
For clinicians: Recognize that different choices will be appropriate for different patients, and that you must help each patient arrive at a management decision consistent with her or his values and preferences.
Neither intervention nor comparison (—)
The panel did not recommend for or against the intervention.
Source: GRADE Handbook, section 6.1, Table 6.1 (GRADE uses “weak” and “conditional” interchangeably).
For the rating of the strength of the recommendation, in addition to evidence from studies in FRDA, evidence from like conditions, clinical experience and expert consensus are taken into account when published evidence is not available.
The level of evidence is based on published evidence from studies in FRDA. If there is no published evidence in FRDA, evidence from other like conditions or clinical expertise may have been used to make the recommendation – this is graded as ‘very low’ or in some cases ‘low’ level evidence. See the table below for an explanation of the symbols used to grade recommendations.
| Strength of recommendation | Symbol | Level of evidence | Symbol |
| Strong for intervention | ↑↑ | High | ⨁⨁⨁⨁ |
| Conditional for intervention | ↑ | Moderate | ⨁⨁⨁◯ |
| Neither intervention nor comparison | — | Low | ⨁⨁◯◯ |
| Conditional against intervention | ↓ | Very low | ⨁◯◯◯ |
| Strong against intervention | ↓↓ |
For individuals with Friedreich ataxia who are no longer ambulant, we recommend regular monitoring of mobility (including ability to transfer) and contributing physical factors for mobility decline (such as balance, strength, lower limb spasticity and environment set-up) at least once per year over less regular or informal monitoring.
Question
Should monitoring at least once per year versus informal monitoring be used for non-ambulant individuals with Friedreich ataxia?
Justification
Although there is no published evidence directly addressing the effectiveness of monitoring mobility for non-ambulant individuals with Friedreich ataxia, annual decline seen in clinical practice warrants regular monitoring (at least annual) and assessment of mobility. This recommendation is consistent with recommendations made in the Ataxia UK Medical Guidelines (45).
Subgroup consideration
This recommendation is for non-ambulant individuals with Friedreich ataxia.
Evidence to recommendation table (PDF)
References (49)
1. White BV, Leib JR, Farmer JM, Biesecker BB. Exploration of transitional life events in individuals with Friedreich ataxia: implications for genetic counseling. Behav Brain Funct. 2010;6(65).
2. Wilson C, Fahey MC, Corben L A, Collins V, Churchyard A, Lamont PJ, et al. Quality of life in Friedreich Ataxia: what clinical, social and demographic factors are important? Eur J Neurol. 2007;14(9):1040-7.
3. Ejaz R, Chen S, Isaacs CJ, Carnevale A, Wilson J, George K, et al. Impact of mobility device use on quality of life in children with Friedreich ataxia. J Child Neurol. 2018;33(6):397-404.
4. Klockgether T, Ludtke R, Kramer B, Abele M, Burk K, Schols L, et al. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain. 1998;121 ( Pt 4)(Pt 4):589-600.
5. Sival DA, Pouwels ME, Van Brederode A, Maurits NM, Verschuuren-Bemelmans CC, Brunt ER, et al. In children with Friedreich ataxia, muscle and ataxia parameters are associated. Dev Med Child Neurol. 2011;53(6):529-34.
6. Beauchamp M, Labelle H, Duhaime M, Joncas J. Natural history of muscle weakness in Friedreich's Ataxia and its relation to loss of ambulation. Clin Orthop Relat Res. 1995(311):270-5.
7. Pandolfo M. Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort. Neurol Genet. 2020;6(3):e415.
8. Stephenson J, Zesiewicz T, Gooch C, Wecker L, Sullivan K, Jahan I, et al. Gait and balance in adults with Friedreich's ataxia. Gait Posture. 2015;41(2):603-7.
9. Diener HC, Dichgans J, Bacher M, Gompf B. Quantification of postural sway in normals and patients with cerebellar diseases. Electroencephalogr Clin Neurophysiol. 1984;57(2):134-42.
10. Schwabova J, Zahalka F, Komarek V, Maly T, Hrasky P, Gryc T, et al. Uses of the postural stability test for differential diagnosis of hereditary ataxias. J Neurol Sci. 2012;316(1-2):79-85.
11. Schwabova J, Maly T, Laczo J, Zumrova A, Komarek V, Musova Z, et al. Application of a Scale for the Assessment and Rating of Ataxia (SARA) in Friedreich's ataxia patients according to posturography is limited. J Neurol Sci. 2014;341(1-2):64-7.
12. Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, et al. Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Neurology. 2018;91(10):e917-e30.
13. Milne SC, Campagna EJ, Corben LA, Delatycki MB, Teo K, Churchyard AJ, et al. Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people With Friedreich ataxia. Arch Phys Med Rehabil. 2012.
14. Maring JR, Croarkin E. Presentation and progression of Friedreich ataxia and implications for physical therapist examination. Phys Ther. 2007;87(12):1687-96.
15. Milne SC, Corben LA, Roberts M, Murphy A, Tai G, Georgiou-Karistianis N, et al. Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial? Clin Rehabil. 2018;32(5):630-43.
16. Ilg W, Brotz D, Burkard S, Giese MA, Schols L, Synofzik M. Long-term effects of coordinative training in degenerative cerebellar disease. Mov Disord. 2010;25(13):2239-46.
17. Drolet M, Noreau L, Vachon J, Moffet H. Muscle strength changes as measured by dynamometry following functional rehabilitation in individuals with spinal cord injury. Arch Phys Med Rehabil. 1999;80(7):791-800.
18. Cassidy E, Naylor S, Reynolds F. The meanings of physiotherapy and exercise for people living with progressive cerebellar ataxia: an interpretative phenomenological analysis. Disabil Rehabil. 2018;40(8):894-904.
19. 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.
20. Ilg W, Synofzik M, Brotz D, Burkard S, Giese MA, Schols L. Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology. 2009;73(22):1823-30.
21. Milne SC, Corben LA, Yiu E, Delatycki MB, Georgiou-Karistianis N. Gastrocnemius and soleus spasticity and muscle length in Friedreich's ataxia. J Clin Neurosci. 2016;29:29-34.
22. Delatycki MB, Holian A, Corben L, Rawicki HB, Blackburn C, Hoare B, et al. Surgery for equinovarus deformity in Friedreich’s ataxia improves mobility and independence. Clin Orthop Relat Res. 2005;430:138-41.
23. Paleg G, Livingstone R. Systematic review and clinical recommendations for dosage of supported home-based standing programs for adults with stroke, spinal cord injury and other neurological conditions. BMC Musculoskelet Disord. 2015;16:358.
24. Suat E, Fatma U, Nilgun B. The effects of dynamic ankle-foot orthoses on functional ambulation activities, weight bearing and spatio-temporal characteristics of hemiparetic gait. Disabil Rehabil. 2011;33(25-26):2605-11.
25. Nslund A, Jesinkey K, Hirschfeld H, von Wendt L, Sundelin G. Effects of dynamic ankle-foot orthoses on standing in children with severe spastic diplegia. Int J Ther Rehabil. 2005;12:200-7.
26. Chen CC, Hong WH, Wang CM, Chen CK, Wu KP, Kang CF, et al. Kinematic features of rear-foot motion using anterior and posterior ankle-foot orthoses in stroke patients with hemiplegic gait. Arch Phys Med Rehabil. 2010;91(12):1862-8.
27. Kobayashi T, Leung AK, Akazawa Y, Hutchines SW. Design and effect of ankle-foot orthoses proposed to influence muscle tone: a review. J Prosthet Orthot. 2011;23:52-7.
28. Cruz TH, Dhaher YY. Impact of ankle-foot-orthosis on frontal plane behaviors post-stroke. Gait Posture. 2009;30(3):312-6.
29. Farlie MK, Molloy E, Keating JL, Haines TP. Clinical markers of the intensity of balance challenge: Observational study of older adult responses to balance tasks. Phys Ther. 2016;96(3):313-23.
30. Milne S, Campagna E, Delatycki MB, Corben LA. Rehabilitation in Friedreich ataxia. In: Iansek R, Morris ME, editors. Rehabilitation in movement disorders. Cambridge: Cambridge University Press; 2013. p. 185-202.
31. Rice LA, Smith I, Kelleher AR, Greenwald K, Boninger ML. Impact of a wheelchair education protocol based on practice guidelines for preservation of upper-limb function: a randomized trial. Arch Phys Med Rehabil. 2014;95(1):10-9 e1.
32. Corben LA, Yiu EM, Tai G, Milne SC, Lynch B, Delatycki MB. Probing the multifactorial source of hand dysfunction in Friedreich ataxia. J Clin Neurosci. 2019;64:71-6.
33. Bossie HM, Willingham TB, Schoick RAV, O'Connor PJ, McCully KK. Mitochondrial capacity, muscle endurance, and low energy in Friedreich ataxia. Muscle Nerve. 2017;56(4):773-9.
34. Naeije G, Rovai A, Pandolfo M, De Tiege X. Hand dexterity and pyramidal dysfunction in Friedreich ataxia, a finger tapping study. Mov Disord Clin Pract. 2021;8(1):85-91.
35. Ellapen TJ, Hammill HV, Swanepoel M, Strydom GL. The health benefits and constraints of exercise therapy for wheelchair users: A clinical commentary. Afr J Disabil. 2017;6:337.
36. Seco C, Fernandez I, Verdejol I, Perez V, Atutxa A, Torres-Unda J. Improvements in quality of life in individuals with Friedreich’s ataxia after participation in a 5-year program of physical activity: An observational study pre-post test design, and two years follow-up. International Journal of Neurorehabilitation. 2014;1(3):129.
37. Kjolhede T, Vissing K, de Place L, Pedersen BG, Ringgaard S, Stenager E, et al. Neuromuscular adaptations to long-term progressive resistance training translates to improved functional capacity for people with multiple sclerosis and is maintained at follow-up. Mult Scler. 2015;21(5):599-611.
38. Hedayatpour N, Falla D. Physiological and neural adaptations to eccentric exercise: Mechanisms and considerations for training. Biomed Res Int. 2015;2015:193741.
39. Piercy KL, Troiano RP. Physical activity guidelines for Americans from the US Department of Health and Human Services. Circ Cardiovasc Qual Outcomes. 2018;11(11):e005263.
40. Perlman SL. Symptomatic and disease-modifying therapy for the progressive ataxias. Neurologist. 2004;10(5):275-89.
41. Akuthota V, Ferreiro A, Moore T, Fredericson M. Core stability exercise principles. Curr Sports Med Rep. 2008;7(1):39-44.
42. Stokes IA, Gardner-Morse M, Henry SM, Badger GJ. Decrease in trunk muscular response to perturbation with preactivation of lumbar spinal musculature. Spine (Phila Pa 1976). 2000;25(15):1957-64.
43. Cabanas-Valdes R, Bagur-Calafat C, Girabent-Farres M, Caballero-Gomez FM, du Port de Pontcharra-Serra H, German-Romero A, et al. Long-term follow-up of a randomized controlled trial on additional core stability exercises training for improving dynamic sitting balance and trunk control in stroke patients. Clin Rehabil. 2017;31(11):1492-9.
44. Cabanas-Valdes R, Cuchi GU, Bagur-Calafat C. Trunk training exercises approaches for improving trunk performance and functional sitting balance in patients with stroke: a systematic review. NeuroRehabilitation. 2013;33(4):575-92.
45. de Silva RN, Greenfield J, Cook A, Bonney H, Vallortigara J, Hunt B, et al. Guidelines on the diagnosis and management of progressive ataxia in adults. Orphanet J Rare Dis. 2019;14:51.
46. Bunn LM, Marsden JF, Giunti P, Day BL. Training balance with opto-kinetic stimuli in the home: a randomized controlled feasibility study in people with pure cerebellar disease. Clin Rehabil. 2015;29(2):143-53.
47. Keller JL, Bastian AJ. A home balance exercise program improves walking in people with cerebellar ataxia. Neurorehabil Neural Repair. 2014;28(8):770-8.
48. 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.
49. Fillyaw MJ, Ades PA. Endurance exercise training in Friedreich ataxia. Arch Phys Med Rehabil. 1989;70(10):786-8.
Disclaimer, intended use and funding
Disclaimer
The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.
These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.
The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.
Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.
These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.
Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.