Variability of clinical expression and evolution of spinal deformity in a family with late detection of dopa-responsive dystonia.

@article{Tsirikos2004VariabilityOC,
  title={Variability of clinical expression and evolution of spinal deformity in a family with late detection of dopa-responsive dystonia.},
  author={Athanasios I Tsirikos and Lucinda J Carr and Hilali H Noordeen},
  journal={Developmental medicine and child neurology},
  year={2004},
  volume={46 2},
  pages={128-37}
}
This case report documents an unusual presentation of dopa-responsive dystonia (DRD) in three siblings (two females, one male) which simulated cerebral palsy (CP) and describes the evolution of their spinal deformity in relation to growth and responsiveness to levodopa therapy. The siblings were normal at birth with a negative history of neurological disease or spinal imbalance. They showed marked phenotypic variation but all developed progressive scoliosis and neurological impairment with… CONTINUE READING