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The Journal of Bone and Joint Surgery 82:1558 (2000)
© 2000 The Journal of Bone and Joint Surgery, Inc.

Spinal Deformity in Familial Dysautonomia

Prevalence, and Results of Bracing*

Shlomo Hayek, M.D.{dagger}, F. Javier Laplaza, M.D.{ddagger}, Felicia B. Axelrod, M.D.§ and Stephen W. Burke, M.D.{ddagger}

Investigation performed at the Department of Pediatric Orthopaedics, The Hospital for Special Surgery, New York, N.Y.
*No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. No funds were received in support of this study.
{dagger}Department of Pediatric Orthopaedics, Tel Aviv Sourasky Medical Center, 6 Weizman Street, Tel Aviv 64239, Israel.
{ddagger}Department of Pediatric Orthopaedics, The Hospital for Special Surgery, 535 East 70th Street, New York, N.Y. 10021. E-mail address for F. J. Laplaza: laplazaf{at}hss.edu E-mail address for S. W. Burke: burkes@hss.edu.
§Dysautonomia Treatment and Evaluation Center, New York University Medical Center, 530 First Avenue, Suite 9Q, New York, N.Y. 10016. E-mail address: felicia.axelrod@popmail.med.nyu.edu.

Background: Familial dysautonomia (Riley-Day syndrome) is an autosomal recessive disorder primarily affecting individuals of Ashkenazi Jewish extraction. It affects the autonomic, central, and peripheral nervous systems. Spinal deformity (mainly scoliosis) is the most common orthopaedic problem in patients with familial dysautonomia. The objectives of our study were to document the prevalence of spinal deformity in a referral center for familial dysautonomia and to determine the effectiveness of bracing.

Methods: We performed a retrospective radiographic and clinical study of 123 patients with familial dysautonomia who had survived to the age of twenty years or older.

Results: One hundred and two (83 percent) of the 123 patients had spinal deformity: sixty-nine (56 percent) had scoliosis only, thirty-one (25 percent) had scoliosis as well as kyphosis, and two (2 percent) had kyphosis only. Scoliosis was diagnosed by the age of ten years in sixty-four (52 percent) of the patients. Of the sixty-five patients who were treated with bracing, fifty-eight (89 percent) had progression and twenty-four (37 percent) underwent spinal arthrodesis. No risk factors for the presence or progression of the curves could be found.

Conclusions: The prevalence of spinal deformity in patients with familial dysautonomia who had lived for at least twenty years was found to be 83 percent. By the age of ten years, 52 percent of the patients had scoliosis and 21 percent had kyphosis with or without scoliosis. Bracing was found to be of limited effectiveness as a definitive treatment for spinal deformity. The curve progressed despite bracing in fifty-eight (89 percent) of sixty-five patients.


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