HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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

Abstract
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.
AuthorsAthanasios I Tsirikos, Lucinda J Carr, Hilali H Noordeen
JournalDevelopmental medicine and child neurology (Dev Med Child Neurol) Vol. 46 Issue 2 Pg. 128-37 (Feb 2004) ISSN: 0012-1622 [Print] England
PMID14974638 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Dopamine Agents
  • Levodopa
Topics
  • Adolescent
  • Age of Onset
  • Child
  • Child, Preschool
  • Dopamine Agents (pharmacology)
  • Dystonic Disorders (complications, genetics)
  • Female
  • Humans
  • Levodopa (pharmacology)
  • Male
  • Pedigree
  • Phenotype
  • Prognosis
  • Retrospective Studies
  • Scoliosis (etiology, genetics, pathology)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: