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

Playing harp, another unusual task-specific dystonia.

E M Gatto1, M M Pardal, R C Reisin

  • 1emiliagatto@fibertel.com.ar

Movement Disorders : Official Journal of the Movement Disorder Society
|August 2, 2001
PubMed
Summary

This study details a rare case of task-specific dystonia in a woman, uniquely linked to family history of harp-playing dystonia and essential tremor.

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

Fabry disease patients have an increased risk of stroke in the COVID-19 ERA. A hypothesis.

Medical hypotheses·2020
Same author

COVID-19 and neurodegeneration: what can we learn from the past?

European journal of neurology·2020
Same author

Deficits in temporal processing correlate with clinical progression in Huntington's disease.

Acta neurologica Scandinavica·2017
Same author

Ethnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 family.

Neurology·2007
Same author

Nonconvulsive status epilepticus in the elderly: a case-control study.

Epilepsia·2007
Same author

Rapid eye movement (REM) sleep without atonia in two patients with corticobasal degeneration (CBD).

Parkinsonism & related disorders·2006

Area of Science:

  • Neurology
  • Movement Disorders
  • Genetics

Background:

  • Task-specific dystonia is a focal neurological disorder characterized by involuntary muscle contractions during specific, often repetitive, tasks.
  • Familial occurrence of dystonia suggests a potential genetic predisposition.
  • Essential tremor is a common neurological disorder, typically affecting the hands, but its co-occurrence with dystonia is less frequently reported.

Observation:

  • A 48-year-old woman presented with task-specific dystonia.
  • Her family history revealed a notable prevalence of harp-playing-induced dystonia.
  • The patient also exhibited symptoms consistent with essential tremor.

Findings:

  • The case highlights an unusual association between familial harp-playing dystonia and essential tremor in an individual.
  • This presentation suggests complex genetic or pathophysiological links between different focal movement disorders.
  • The specific manifestation of dystonia related to harp playing in the family points to a potential gene-environment interaction.

Implications:

  • This case expands the understanding of the phenotypic spectrum and genetic heterogeneity of dystonia.
  • Further research into familial dystonia and essential tremor may elucidate shared genetic factors or pathways.
  • Understanding these associations can inform diagnostic approaches and potential therapeutic strategies for patients with complex movement disorders.

Related Experiment Videos