Topic 9.1. Overview of orthopedic issues in Friedreich ataxia

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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.

Topic Contents

9.1 Overview of orthopedic issues in Friedreich ataxia
9.1.1 Scoliosis in Friedreich ataxia
9.1.2 Foot deformity in Friedreich ataxia

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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.
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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.

9.1 Overview of orthopedic issues in Friedreich ataxia

John Flynn, David Lynch and Louise Corben

Orthopedic issues are apparent in Friedreich ataxia (FRDA) particularly in the majority as scoliosis and to a lesser extent, pes cavus (1, 2). In early (age 0 to 7 years) and typical onset (8 to 14 years) FRDA, 69% and 80% of patients respectively present with scoliosis (3). The majority of studies report the most rapid progression of scoliosis occurring between the ages of 10 and 16 years corresponding to the age of puberty and associated with significant growth (3). In a large European natural history study (n=649) deformities of the feet, predominantly pes cavus, was reported in 374/649 (58.8%) individuals. Of this cohort 47/372 (7.2%) required surgery. Both the presence of scoliosis and pes cavus have the potential to impact quality of life in terms of functional capacity and pain. This chapter discusses the orthopedic issues related to FRDA, in particular management of scoliosis and foot deformities.

9.1.1 Scoliosis in Friedreich ataxia

Scoliosis occurs in most individuals with FRDA (4-7), with a high prevalence of double thoracic and/or lumbar curves. Scoliosis may be severe and progressive, that is, occurring before the age of 10 years and exhibiting a curve greater than 60o; or less severe and non-progressive with a curve less than 40o (7). A large natural history study comprising 1116 individuals with FRDA reported intermediate to severe scoliosis in 90% of individuals with early (age 0 to 7 years) and typical (8 to 14 years) FRDA onset. There was a lower prevalence of scoliosis in those with a later age of onset (>14 years) (3). In a further large natural history study (n=650) scoliosis was reported in 73.5% of individuals with FRDA (2). A smaller prospective monocentric study reported 47/66 (71%) individuals with FRDA had a scoliotic deformity (8). The growth phase and puberty present times of major progression of scoliosis, resulting in the need for surgical intervention in more than 50% of individuals, on average aged between 12 and 16 years (3, 4, 9). More severe scoliosis is generally found in individuals who have an onset of FRDA prior to 10 years of age (3, 5, 7, 8, 10). An earlier age of onset of FRDA generally coincides with the rapid progression of scoliosis between the ages of 10 and 16 years; hence, this time is particularly critical in terms of monitoring and intervention (3). It should be noted that scoliosis related to FRDA does not always progress and therefore does not always require intervention (7, 11, 12).

Allard and colleagues (9) reported that typically an individual with FRDA presents between the ages of 10 and 15 years with a right thoracic spinal deformity which is relatively stable, usually with a Cobb angle of 24o, however, thereby increasing in the following five years in addition to developing a compensatory left lumbar curve. Subsequent studies reported scoliosis in FRDA may be a single thoracic curve; however, the more usual pattern is of double major curves (4, 6, 13).

The etiology of scoliosis in FRDA is still unclear. It does not follow the usual pattern associated with scoliosis of a neuromuscular origin, such as muscular dystrophy or spinal muscular atrophy (7, 8, 14). Muscle weakness, age of onset or clinical severity has not been shown to correlate with severity or progression of scoliosis in FRDA (7, 8). Spasticity is a significant component of the motor pattern disturbance associated with FRDA and it is possible that spasticity and/or disturbed postural reflexes may have a role in the development of scoliosis associated with FRDA. This hypothesis, while yet to be confirmed, may be significant in considering non-invasive methods of managing scoliosis in FRDA.

9.1.2 Foot deformity in Friedreich ataxia

Individuals with FRDA may present with pes cavus and also equinovarus deformities, both of which may place individuals with FRDA at a particular mechanical disadvantage and make locomotion, transfers and standing difficult (15-17).

Louise Corben, PhD
Principal Research Fellow, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia

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

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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.