Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia, and Charcot-Marie-Tooth disease

Abstract

Children with progressive neurological conditions such as spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia (Riley-Day syndrome), and Charcot-Marie-Tooth disease have a significant risk of acquiring a serious spinal deformity. As with paralytic scoliosis following poliomyelitis, the curves are difficult to control with bracing, and progression does not cease with maturation. An increasing spinal curvature may lead to loss of ambulation or, for the wheelchair-bound patient, loss of sitting balance. The curvature may further compromise pulmonary function that may already be compromised by the neurological deficit. Twenty patients are reported with an average follow-up of six years (range, one to fourteen years). For the properly selected patient, surgical stabilization of the spine arrested the progress of the curve and improved function. Complications were few; however, pseudarthrosis was more common than in patients with non-neurological problems.