Objective: To document an unusual pattern of clinical presentation simulating cerebral palsy and investigate the evolution of spinal deformity in relation to patients’ growth and responsiveness to levodopa therapy.

Study Design-Material: A retrospective study was performed including 3 pediatric patients with dopa-responsive dystonia who developed in the course of their disease spinal curvatures.

Summary of Background Data: Dopa-responsive dystonia has been recognized as a separate type of idiopathic dystonia with early onset, gradual generalized involvement, diurnal fluctuation of symptoms, spinal malalignment, and remarkable response to levodopa. Nevertheless, it can present with atypical features including prominent spastic elements and intrafamilial variability of expression.

Methods: The medical records and radiographs of the 3 patients were reviewed.

Results: All 3 siblings were normal at birth and had negative family history of neurological disease or spinal imbalance. Soon they developed progressive neurological impairment with exaggerated spasticity, underestimated dystonic patterns, and marked phenotypic variation, leading to the initial misdiagnosis of spastic-dystonic cerebral palsy of familial inheritance. With further growth, patient 1 and 3 developed spinal deformity, which responded dramatically to levodopa treatment and resolved spontaneously, while the neurological symptoms persistently ameliorated. Patient 2 developed a rigid C-shaped thoracolumbar scoliotic curve measuring at age 10 years 88o; even though she demonstrated considerable overall improvement with levodopa, the spinal curvature remained unresponsive and necessitated surgical correction through a combined anterior-posterior instrumented spinal fusion extending to the sacrum. However, her ambulatory function was preserved.

Conclusions: Spinal decompensation is a common manifestation of dopa-responsive dystonia with excellent prognosis if adequate diagnosis and initiation of levodopa treatment are made early. On the contrary, if diagnosis and levodopa treatment are delayed, spinal deformity may progress following the rapid evolution pattern of neuromuscular curves, necessitating surgical intervention. When spinal arthrodesis is required, inclusion of the lumbosacral joint does not preclude latter ambulatory function.