Friedreich's ataxia and scoliosis: the experience at two institutions.
OBJECTIVE
Friedreich's ataxia is a genetically transmitted, progressive spinocerebellar degenerative disease characterized by ataxia. The purpose of this study is to evaluate the demographics, progression, nonoperative, and operative treatment of spinal deformities in patients with Friedreich's ataxia at 2 tertiary pediatric orthopaedic hospitals.


METHODS
After institutional review board approval, chart review of Friedreich's ataxia patients identified those having scoliosis. Demographic data, length of follow-up, brace treatment, operative treatment, and complications were determined. Radiographic review was also performed.


RESULTS
Seventy-seven patients were identified as having Friedreich's ataxia, of which 49 (63%) were diagnosed with scoliosis. Twenty-seven were male; 22 were female. Mean age at diagnosis of scoliosis was 12.8 years (4.9-20 years). Mean follow-up was 3.7 years (0-13 years). There were 16 (33%) double major curves, with 8 (22%) of the thoracic curves being left sided. Hyperkyphosis was present in 12 (24.5%).Twenty-four (49%) of patients progressed > or =6 degrees. Using a chi-square analysis, there was no association, with a curve magnitude of 10 degrees before the age of 10 years and progression of the curve (P = 0.4386). Ten (20%) patients were treated in braces, with average progression in brace of 15 (0-44) degrees. Sixteen (33%) patients were treated with spinal fusion (15 posterior spinal fusion and 1 anterior spinal fusion). Thirteen (81%) of 16 patients who underwent operative intervention were wheelchair dependent. Somatosensory evoked potentials monitoring was attempted in 11 patients but was effective in only 1. Immediate postoperative correction averaged 49% in the thoracic spine (24%-87%) and 51% in the lumbar spine (26%-82%). This correction decreased to 39% in the thoracic (-22% to 85 %) and 30% in the lumbar spine (-35% to 82%) at final follow-up. The average postoperative follow-up was 3.6 years (2-6.5). One patient (6.2%) developed an infection and was the only patient who underwent reoperation.


CONCLUSIONS
Scoliosis in Friedreich's ataxia is common (63%). Curve patterns are variable and do not necessarily resemble idiopathic curves. Although few patients were braced, results were poor. Fusion using modern segmental constructs was effective in creating substantial intraoperative correction and maintaining correction postoperatively. SSEP monitoring was usually ineffective, so preparation for a wake-up test is recommended.


CONCLUSIONS
Patients with Friedreich's ataxia need to be carefully screened for scoliosis and counseled about the high rate of surgical fusion. Using modern implants, correction can be achieved and maintained.
Milbrandt
Todd A
TA
University of Kentucky and Shriners Hospital for Children, 1900 Richmond Road, Lexington, KY 40502, USA. tmilbrandt@shrinenet.org
Kunes
Justin R
JR
Karol
Lori A
LA
D000293:Adolescent; D000328:Adult; D001915:Braces; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005073:Evoked Potentials, Somatosensory; D005260:Female; D005500:Follow-Up Studies; D005621:Friedreich Ataxia / Q000150:complications* / Q000503:physiopathology; D006776:Hospitals, Pediatric; D006801:Humans; D007738:Kyphosis / Q000209:etiology; D008297:Male; D012189:Retrospective Studies; D012600:Scoliosis / Q000453:epidemiology / Q000209:etiology* / Q000628:therapy; D013123:Spinal Fusion; D014910:Wheelchairs