Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

DOPA-sensitive dystonia-plus syndrome.

Wilfrid Casseron1, Pierre Genton

  • 1Service de Neurologie et Maladies Neuromusculaires, 9ème etage, CHU Timone, 13005 Marseille, France. casseron.wilfrid@voila.fr

Developmental Medicine and Child Neurology
|March 3, 2005
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Centroparietal periodic sharp-wave discharges and biphasic complexes: Novel EEG biomarkers for early diagnosis of Rasmussen encephalitis.

Epilepsy & behavior reports·2026
Same author

Charlotte Dravet: Life and contributions to epileptology.

Epilepsia·2026
Same author

History of Lennox-Gastaut Syndrome: Sixty Years of Advancements in Therapeutic Practices.

Seizure·2025
Same author

History of Lennox-Gastaut Syndrome: An electro-clinical voyage in search of an epileptic syndrome.

Seizure·2025
Same author

A multicenter Phase II randomized, placebo-controlled single-blind trial with the SV2A ligand seletracetam in photosensitive epilepsy patients.

Epilepsy & behavior : E&B·2025
Same author

Globus Pallidus Internus (GPi) Neuromodulation is Not Effective in Unverricht-Lundborg Disease to Control Myoclonia.

Movement disorders : official journal of the Movement Disorder Society·2024

This study describes a new DOPA-sensitive dystonia-plus syndrome in two sisters. Childhood-onset dystonia and fatigue responded well to 3,4-dihydroxyphenylalanine (DOPA) therapy.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Dystonia is a movement disorder characterized by involuntary muscle contractions.
  • Childhood-onset dystonia presents unique diagnostic and therapeutic challenges.
  • Segawa syndrome is a known cause of DOPA-responsive dystonia.

Observation:

  • Two sisters presented with childhood-onset axial dystonia and significant diurnal fluctuations.
  • Associated symptoms included fatigue, facial dysmorphism, short stature, obesity, and learning disability.
  • Symptoms began around 6 years of age.

Findings:

  • Dystonia and fatigue showed a marked positive response to 3,4-dihydroxyphenylalanine (DOPA) therapy.
  • Symptom recurrence was observed upon DOPA withdrawal, with sustained efficacy over 7 years.

Related Experiment Videos

  • Other associated symptoms were not significantly impacted by DOPA treatment.

    • Implications:

    • The distinct combination of symptoms, DOPA sensitivity, and childhood persistence suggests a novel clinical entity.
    • This case expands the spectrum of DOPA-responsive movement disorders.
    • The proposed DOPA-sensitive dystonia-plus syndrome requires further investigation and characterization.