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

Congenital oculo-bulbar palsy.

F G Jennekens1, H Veldman, L J Vroegindeweij-Claessens

  • 1Laboratory for Neuromuscular Diseases, University of Utrecht, The Netherlands.

Journal of Neurology, Neurosurgery, and Psychiatry
|May 1, 1992
PubMed
Summary

A rare congenital oculo-bulbar palsy was identified in a young girl with progressive muscle weakness. Muscle biopsy revealed unique axonal and neuromuscular junction abnormalities, suggesting a previously undescribed myopathy.

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

A Comparison of Pseudo-Maximum Likelihood and Asymptotically Distribution-Free Dynamic Factor Analysis Parameter Estimation in Fitting Covariance-Structure Models to Block-Toeplitz Matrices Representing Single-Subject Multivariate Time-Series.

Multivariate behavioral research·2016
Same author

Dynamic Factor Analysis in the Frequency Domain: Causal Modeling of Multivariate Psychophysiological Time Series.

Multivariate behavioral research·2016
Same author

A Structural Modeling Approach to a Multilevel Random Coefficients Model.

Multivariate behavioral research·2016
Same author

Testing Specific Hypotheses Concerning Latent Group Differences in Multi-group Covariance Structure Analysis with Structured Means.

Multivariate behavioral research·2016
Same author

Estimating and Testing the Sources of Evoked Potentials in the Brain.

Multivariate behavioral research·2016
Same author

[Auto-immune disorders as a possible cause of neuropsychiatric syndromes].

Tijdschrift voor psychiatrie·2015

Area of Science:

  • Neurology
  • Muscle Physiology
  • Genetics

Background:

  • Congenital myopathies represent a heterogeneous group of neuromuscular disorders affecting muscle development and function from birth.
  • Oculo-bulbar muscle involvement in congenital myopathies can lead to significant feeding, breathing, and communication difficulties.

Observation:

  • A pediatric case presented with early-onset, progressive weakness of bulbar and ocular muscles.
  • Electromyography indicated a subclinical, widespread myopathy.
  • Muscle biopsy demonstrated neurofilamentous accumulations and abnormal membranous material within terminal axons.

Findings:

  • Neuromuscular junctions exhibited small endplates and abnormally deep secondary synaptic clefts.
  • Acetylcholine receptors were found to extend unusually deep into the junctional folds.

Related Experiment Videos

  • Muscle fibers displayed subsarcolemmal vacuolation.

    • Implications:

    • This case describes a potentially novel form of congenital oculo-bulbar palsy.
    • Understanding these specific ultrastructural abnormalities may aid in diagnosing and potentially treating similar rare neuromuscular disorders.
    • Further research is warranted to elucidate the underlying genetic and molecular mechanisms of this condition.