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 mixed
spastic dystonic features, leading to the misdiagnosis of
spastic dystonic CP. Age at establishment of the diagnosis of DRD and
levodopa trial for the three patients was 12 years, 9 years 6 months, and 3 years 6 months respectively. In patients 1 and 3, spinal
deformity responded dramatically to
levodopa treatment and neurological symptoms were ameliorated. Patient 2 developed a rigid scoliotic curve and, despite neurological improvement with
levodopa, the
spinal curvature remained unresponsive necessitating surgical correction. Spinal decompensation is a common manifestation of DRD, which with early diagnosis and initiation of
levodopa treatment has an excellent prognosis. This report highlights the variability of clinical expression in DRD and the importance of an adequate trial of
levodopa when unexplained dystonic features are documented.