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Posterior Spinal Fusion for Friedreich Ataxia-Related Scoliosis in Twin GirlsA Case Report
Jennifer Leighton, MD, BScK1; Jason Howard, MD, FRCSC1; Ron El-Hawary, MD, MSc, FRCSC1
1 Division of Paediatric Orthopaedic Surgery, IWK Health Centre, 5850 University Avenue, P.O. Box 9700, Halifax, NS B3K 6R8, Canada. E-mail address for J. Leighton: j.leighton@dal.ca
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Investigation performed at the Division of Paediatric Orthopaedic Surgery, IWK Health Centre, Halifax, Nova Scotia, Canada



Disclosure: One or more of the authors received payments or services, either directly or indirectly (i.e., via his or her institution), from a third party in support of an aspect of this work. In addition, one or more of the authors, or his or her institution, has had a financial relationship, in the thirty-six months prior to submission of this work, with an entity in the biomedical arena that could be perceived to influence or have the potential to influence what is written in this work. No author has had any other relationships, or has engaged in any other activities, that could be perceived to influence or have the potential to influence what is written in this work. The complete Disclosures of Potential Conflicts of Interest submitted by authors are always provided with the online version of the article.

Copyright © 2013 by The Journal of Bone and Joint Surgery, Inc.
JBJS Case Connector, 2013 Apr 24;3(2):e39 1-6. doi: 10.2106/JBJS.CC.L.00056
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Extract

Friedreich ataxia (FRDA) is an autosomal recessive spinocerebellar ataxia with an incidence of two in 100,000 Caucasians1. Caused by a triplet expansion mutation of the frataxin gene, which is located on chromosome 9q13, it is the most common recessively inherited ataxia2. Early symptoms include tabetocerebellar ataxia, generalized clumsiness, scoliosis, and pes cavus or equinovarus1,2. Later, dysarthria, nystagmus, hypertrophic cardiomyopathy, and diabetes mellitus may arise1. Symptoms begin within the first two decades of life, and most people with FRDA lose the ability to walk within fifteen years3. Cardiomyopathy may lead to arrhythmia, congestive heart failure, and premature death by the third or fourth decade4.
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    These activities have been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American Academy of Orthopaedic Surgeons and The Journal of Bone and Joint Surgery, Inc. The American Academy of Orthopaedic Surgeons is accredited by the ACCME to provide continuing medical education for physicians.
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