Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis
Annual rept. 1 Aug 2012-31 Jul 2013
MINNESOTA UNIV MINNEAPOLIS
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Dystrophic or non-dystrophic scoliosis is one of most common skeletal manifestations of Neurofibromatosis type 1. Dystrophic scoliosis has a more progressive and debilitating course than non-dystrophic scoliosis thus requiring in most cases surgical intervention. Experts have recommended early intervention for better outcomes but tools for early detection of dystrophic scoliosis have not been developed. The goal of this study is to develop validated radiographic and genetic tools for early detection of dystrophic or non-dystrophic scoliosis. Early detection will allow physicians to provide more timely interventions and consequently improve outcomes and overall clinical management in patients with Neurofibromatosis type 1. Early detection may also lessen the number of imaging modalities such us radiographs and MRIs, thereby lowering cost of medical management. Work to date has focused on radiographic criteria for dystrophic modulation and validation of this radiographic scoring system. Initial patient recruitment for genetic marker testing has begun.
- Genetic Engineering and Molecular Biology
- Medicine and Medical Research