STUDY DESIGN: This retrospective study reviewed 100 children with clinically and electrodiagnostically proven Charcot-Marie-Tooth disease (CMTD). OBJECTIVE: To determine the incidence of spinal deformity in children with CMTD. SUMMARY OF BACKGROUND DATA: A 10% incidence of kyphoscoliosis has been reported. METHODS: All charts and electrodiagnostic studies were reviewed to confirm that CMTD diagnostic criteria were met. Existing radiographs on 89 children were available. Cobb angles were measured and deformity was defined as scoliosis > or = 10 degrees and kyphosis > 40 degrees. RESULTS: Thirty-seven of 89 CMTD children had spinal deformity. There was scoliosis in 20, kyphoscoliosis in 14, and kyphosis in 3. In children with radiographs taken at maturity, 50% had deformity. The most common scoliotic pattern was a thoracic curve with convexity in either direction. Spinal deformity is more likely in female and Type I patients. CONCLUSIONS: This study found an incidence of 37%-50% spinal deformity in children with CMTD, with female and Type I patients at greatest risk. However, the deformity rarely required treatment.
STUDY DESIGN: This retrospective study reviewed 100 children with clinically and electrodiagnostically proven Charcot-Marie-Tooth disease (CMTD). OBJECTIVE: To determine the incidence of spinal deformity in children with CMTD. SUMMARY OF BACKGROUND DATA: A 10% incidence of kyphoscoliosis has been reported. METHODS: All charts and electrodiagnostic studies were reviewed to confirm that CMTD diagnostic criteria were met. Existing radiographs on 89 children were available. Cobb angles were measured and deformity was defined as scoliosis > or = 10 degrees and kyphosis > 40 degrees. RESULTS: Thirty-seven of 89 CMTDchildren had spinal deformity. There was scoliosis in 20, kyphoscoliosis in 14, and kyphosis in 3. In children with radiographs taken at maturity, 50% had deformity. The most common scoliotic pattern was a thoracic curve with convexity in either direction. Spinal deformity is more likely in female and Type Ipatients. CONCLUSIONS: This study found an incidence of 37%-50% spinal deformity in children with CMTD, with female and Type Ipatients at greatest risk. However, the deformity rarely required treatment.
Authors: Stavros Bashiardes; Rose Veile; Missy Allen; Carol A Wise; Mathew Dobbs; Jose A Morcuende; Lazlos Szappanos; John A Herring; Anne M Bowcock; Michael Lovett Journal: Hum Genet Date: 2004-04-16 Impact factor: 4.132