Guidelines for Management of Orthopedic Issues in Friedreich Ataxia

In November 2022, guidelines for the clinical management of Friedreich ataxia (FA) were published by an expert panel using the Grading of Recommendations Assessment and Evaluation (GRADE) framework for rare diseases developed by the RARE-Bestpractices Working Group.^[3]The following recommendations and suggestions were made regarding orthopedic issues (ie, scoliosis and foot deformity) in patients with FA:

Spinal examination must be part of the multidisciplinary approach for individuals with FA and should be performed regularly
Individuals with FA who have a spinal curve between 20° and 40° and/or are between the ages of 10 and 16 years should be observed for curve progression; bracing may not reduce or stop curve progression, but it may be valuable in delaying surgical correction in young children
Patients with scoliosis >40° may be considered appropriate for surgical correction
Delay of surgical intervention should be considered in ambulant individuals with FA
For all FA patients being considered for scoliosis surgery, extensive preoperative evaluation and planning regarding cardiac and pulmonary function are required
It is suggested that surgery not be used over conservative therapy for individuals with scoliosis and FA
Age should be considered when scoliosis surgery is contemplated for individuals with FA
Stratification according to cardiac status is recommended when scoliosis surgery is contemplated for individuals with FA
Orthopedic surgery is conditionally recommended for FA patients with foot issues if it is considered that such surgery would assist in foot alignment to facilitate mobility and/or safe and effective transfers
Orthotics are conditionally recommended for FA patients with foot issues
It is not possible to recommend either physiotherapy or no physiotherapy for FA patients with foot issues

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Stephen Kishner, MD, MHA Clinical Professor, Louisiana State University School of Medicine in New Orleans

Stephen Kishner, MD, MHA is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Paul E Di Cesare, MD Clinical Operations Associate Medical Director, AIM Specialty Health

Paul E Di Cesare, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Vinod K Panchbhavi, MD, FACS, FAOA, FABOS, FAAOS Professor, Department of Orthopedic Surgery, Chief, Division of Foot and Ankle Surgery, Director, Foot and Ankle Fellowship Program, Department of Orthopedic Surgery, University of Texas Medical Branch School of Medicine

Vinod K Panchbhavi, MD, FACS, FAOA, FABOS, FAAOS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Orthopaedic Trauma Association, Texas Orthopaedic Association

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Styker.

Additional Contributors

Jegan Krishnan, MBBS, FRACS, PhD Professor, Chair, Department of Orthopedic Surgery, Flinders University of South Australia; Senior Clinical Director of Orthopedic Surgery, Repatriation General Hospital; Private Practice, Orthopaedics SA, Flinders Private Hospital

Jegan Krishnan, MBBS, FRACS, PhD is a member of the following medical societies: Australian Medical Association, Australian Orthopaedic Association, Royal Australasian College of Surgeons

Disclosure: Nothing to disclose.

Acknowledgements

Natalya V Bulaeva, MD, PhD, and John Baker, MD, are gratefully acknowledged for their contributions to this article.

Sections Orthopedic Surgery for Friedreich Ataxia
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Orthopedic Surgery for Friedreich Ataxia Guidelines

Guidelines for Management of Orthopedic Issues in Friedreich Ataxia

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