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

Familial dysautonomia (Riley-Day syndrome)

E R Tonholo-Silva1, S I Takahashi, L Yoshinaga

  • 1Department of Pediatrics, Faculdade de Medicina de Marília (FMM), SP, Brasil.

Arquivos De Neuro-Psiquiatria
|March 1, 1994
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

Influence of fabrication errors on wölter mirror imaging performance.

Applied optics·2008
Same author

Long-term hormonal regulation of the cAMP-specific phosphodiesterases in cultured FRTL-5 thyroid cells.

Biochimica et biophysica acta·2001
Same author

Intraoral cameras--the advanced technology tool of the millennium.

Practical periodontics and aesthetic dentistry : PPAD·2001
Same author

Digital images--pictures & movies.

Practical periodontics and aesthetic dentistry : PPAD·2001
Same author

The use of teledentistry for remote learning applications.

Practical procedures & aesthetic dentistry : PPAD·2001
Same author

Short term feedback regulation of cAMP in FRTL-5 thyroid cells. Role of PDE4D3 phosphodiesterase activation.

The Journal of biological chemistry·2001

Familial dysautonomia, a rare autonomic nervous system disorder, presents with sensory and motor deficits. Early diagnosis and symptomatic treatment are crucial for managing Riley-Day syndrome in affected children.

Area of Science:

  • Neurology
  • Genetics

Background:

  • Familial dysautonomia, or Riley-Day syndrome, is an autosomal recessive disorder affecting the autonomic nervous system.
  • It involves the reduction or loss of unmyelinated and small myelinated nerve fibers.

Observation:

  • Diagnosis relies on clinical manifestations including diminished lacrimation, pain insensitivity, and poor temperature regulation.
  • Other key features include absent deep tendon reflexes, postural hypotension, vomiting, poor motor coordination, and intellectual disability.

Findings:

  • Reduced dopamine beta-hydroxylase levels in the blood are observed in patients.
  • The condition impacts both sensory and motor functions due to nerve fiber abnormalities.

Implications:

  • Symptomatic treatment is the current approach, as there is no cure.

Related Experiment Videos

  • Prognosis is often poor, with high mortality in early childhood, frequently due to aspiration pneumonia.