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Case Reports
. 2025 Oct 3.
doi: 10.1002/acn3.70219. Online ahead of print.

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia-It Is Not Too Late

Kathrin Reetz  1   2 , Stella A Lischewski  1   2 , Jörg B Schulz  1   2 , Maximilian Praster  3 , Miguel Pishnamaz  3 ; FACROSS study group; Imis Dogan  1   2 , Sandro Romanzetti  1   2 , Ravi Dadsena  1   2 , Kerstin Konrad  4 , Thomas Clavel  5 , Vera Jankowski  6 , Joachim Jankowski  6 , Oliver Pabst  7 , Nikolaus Marx  8 , Julia Moellmann  8 , Malte Jacobsen  8 , Katharina Marx-Schütt  8 , Juergen Dukart  9   10 , Simon Eickhoff  9   10 , Ralf-Dieter Hilgers  11
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Free article
Case Reports

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia-It Is Not Too Late

Kathrin Reetz et al. Ann Clin Transl Neurol. .
Free article

Abstract

Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non-neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease. We present a 38-year-old woman with late-stage Friedreich's ataxia and pronounced thoracolumbar scoliosis (Cobb angle 48°) causing severe pain and limited sitting tolerance. After posterior corrective spondylodesis (T4-ilium), she reported marked improvements in pain, sitting tolerance, function, and quality of life in the SF-36 questionnaire. This case highlights the potential for substantial clinical and functional benefits from scoliosis surgery in patients with advanced Friedreich's ataxia.

Keywords: Friedreich ataxia; quality of life; scoliosis; surgery.

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References

    1. C. Rummey, J. M. Flynn, L. A. Corben, et al., “Scoliosis in Friedreich's Ataxia: Longitudinal Characterization in a Large Heterogeneous Cohort,” Annals of Clinical and Translational Neurology 8, no. 6 (2021): 1239–1250, https://doi.org/10.1002/acn3.51352.
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    1. K. Reetz, I. Dogan, C. Hohenfeld, et al., “Nonataxia Symptoms in Friedreich Ataxia: Report From the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS),” Neurology 91, no. 10 (2018): e917–e930, https://doi.org/10.1212/wnl.0000000000006121.

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