Spinal Deformity in Familial Dysautonomia : Prevalence, and Results of Bracing

BackgroundFamilial 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 pat...

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Bibliographic Details
Published in:Journal of bone and joint surgery. American volume 2000-11, Vol.82 (11), p.1558-1558
Main Authors: Hayek, Shlomo, Laplaza, F Javier, Axelrod, Felicia B, Burke, Stephen W
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Braces
Diseases of the osteoarticular system
Diseases of the spine
Dysautonomia, Familial - complications
Dysautonomia, Familial - genetics
Female
Humans
Kyphosis - epidemiology
Kyphosis - etiology
Kyphosis - therapy
Male
Medical sciences
Nervous system involvement in other diseases. Miscellaneous
Neurology
Prevalence
Scoliosis - epidemiology
Scoliosis - etiology
Scoliosis - therapy
Survival Analysis
Citations: Items that this one cites
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Summary:BackgroundFamilial 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.MethodsWe performed a retrospective radiographic and clinical study of 123 patients with familial dysautonomia who had survived to the age of twenty years or older.ResultsOne hundred and two (83 percent) of the 123 patients had spinal deformitysixty-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.ConclusionsThe 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.
ISSN:0021-9355
1535-1386
DOI:10.2106/00004623-200011000-00007