Chapter 9. Orthopedic issues in Friedreich ataxia
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
9.1 Overview of orthopedic issues in Friedreich ataxia
9.2. Management strategies for scoliosis in Friedreich ataxia
9.3 Management strategies for foot deformity in Friedreich ataxia
Disclaimer / Intended Use / 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.
9. Orthopedic issues in Friedreich ataxia
This chapter describes orthopedic issues associated with Friedreich ataxia, specifically scoliosis and foot deformities, and strategies for investigating and managing these issues. In making recommendations for management of orthopedic issues, the authors were tasked with answering the following questions:
For individuals with Friedreich ataxia, what management strategies could be implemented for scoliosis? (see 9.2)
For individuals with Friedreich ataxia, what management strategies could be implemented for foot deformity? (see 9.3)
Louise Corben, PhD
Principal Research Fellow, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
Email: louise.corben@mcri.edu.au
John M. (Jack) Flynn, MD
Richard M. Armstrong, Jr., Endowed Chair, Chief of Orthopaedic Surgery, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
David Lynch, MD, PhD
Professor of Neurology and Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Email: lynchd@mail.med.upenn.edu
2. 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.
3. Rummey C, Flynn JM, Corben LA, Delatycki MB, Wilmot G, Subramony SH, et al. Scoliosis in Friedreich’s ataxia: longitudinal characterization in a large heterogeneous cohort. Ann Clin Transl Neurol. 2021;8(6):1239-50.
4. Cady RB, Bobechko WP. Incidence, natural history, and treatment of scoliosis in Friedreich’s ataxia. J Pediatr Orthop. 1984;4(6):673-6.
5. Shapiro F, Specht L. The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogryposis. J Bone Joint Surg Am. 1993;75(11):1699-714.
6. Milbrandt TA, Kunes JR, Karol LA. Friedreich ataxia and scoliosis. The experience of two institutions. Journal of Pediatric Orthopaedics. 2008;28(2):234-8.
7. Labelle H, Tohme S, Duhaime M, Allard P. Natural history of scoliosis in Friedreich’s ataxia. Journal of Bone & Joint Surgery – American Volume. 1986;68(4):564-72.
8. Simon AL, Meyblum J, Roche B, Vidal C, Mazda K, Husson I, et al. Scoliosis in Patients With Friedreich Ataxia: Results of a Consecutive Prospective Series. Spine Deform. 2019;7(5):812-21.
9. Allard P, Dansereau J, Thiry PS, Geoffroy G, Raso JV, Duhaime M. Scoliosis in Friedreich’s ataxia. Can J Neurol Sci. 1982;9(2):105-11.
10. Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, et al. Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet. 1999;87(2):168-74.
11. Garfin SR, Leach J, Mubarak SJ, Schultz P. Experimental approach–and literature review–of spinal care in adults with a neuromuscular disorder. J Spinal Disord. 1988;1(3):202-5.
12. Tsirikos AI, Smith G. Scoliosis in Friedreich’s ataxia. The Journal of Bone and Joint Surgery. 2012;94(B):684-9.
13. Daher YH, Lonstein JE, Winter RB, Bradford DS. Spinal deformities in patients with Friedreich ataxia: a review of 19 patients. J Pediatr Orthop. 1985;5(5):553-7.
14. Aronsson DD, Stokes IA, Ronchetti PJ, Labelle HB. Comparison of curve shape between children with cerebral palsy, Friedreich’s ataxia, and adolescent idiopathic scoliosis. Dev Med Child Neurol. 1994;36(5):412-8.
15. 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.
16. Keenan MA. The management of spastic equinovarus deformity following stroke and head injury. Foot Ankle Clin. 2011;16(3):499-514.
17. Maring JR, Croarkin E. Presentation and progression of Friedreich ataxia and implications for physical therapist examination. Phys Ther. 2007;87(12):1687-96.
18. Cobb JR. Outline for the study of scoliosis. Instr Course Lect. 1948;5:261-75.
19. Piazzolla A, Solarino G, De Giorgi S, Mori CM, Moretti L, De Giorgi G. Cotrel-Dubousset instrumentation in neuromuscular scoliosis. Eur Spine J. 2011;20 Suppl 1:S75-84.
20. Stricker U, Moser H, Aebi M. Predominantly posterior instrumentation and fusion in neuromuscular and neurogenic scoliosis in children and adolescents. Eur Spine J. 1996;5(2):101-6.
21. La Rosa G, Giglio G, Oggiano L. Surgical treatment of neurological scoliosis using hybrid construct (lumbar transpedicular screws plus thoracic sublaminar acrylic loops). Eur Spine J. 2011;20 Suppl 1:S90-4.
22. Cotrel Y, Dubousset J. A new technic for segmental spinal osteosynthesis using the posterior approach. Orthop Traumatol Surg Res. 2014;100(1):37-41.
23. Payne RM, Wagner GR. Cardiomyopathy in Friedreich ataxia: clinical findings and research. J Child Neurol. 2012;27(9):1179-86.
24. Fusco C, Zaina F, Atanasio S, Romano M, Negrini A, Negrini S. Physical exercises in the treatment of adolescent idiopathic scoliosis: an updated systematic review. Physiother Theory Pract. 2011;27(1):80-114.
25. 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.
26. Näslund A, Jesinkey K, Hirschfeld H, von Wendt L, Sundelin G. Effects of dynamic ankle-foot orthoses on standing in children with severe spastic diplegia. International Journal of Therapy and Rehabilitation. 2005;12:200-7.
27. 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.
28. Cruz TH, Dhaher YY. Impact of ankle-foot-orthosis on frontal plane behaviors post-stroke. Gait Posture. 2009;30(3):312-6.
29. Fatone S, Gard SA, Malas BS. Effect of ankle-foot orthosis alignment and foot-plate length on the gait of adults with poststroke hemiplegia. Arch Phys Med Rehabil. 2009;90(5):810-8.
30. 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.
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.
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.