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

[Autoimmune myasthenia: recent physiopathological data]

B Eymard1, P Chillet

  • 1Division Risler, Hôpital de la Salpêtrière, Paris.

Presse Medicale (Paris, France : 1983)
|May 31, 1997
PubMed
Summary

Myasthenia gravis is an autoimmune disease targeting acetylcholine receptors (AChR). Understanding its complexity, including antibody-negative forms and genetic factors, is key to managing this rare neuromuscular disorder.

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

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Muscle & nerve·2026
Same author

Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families.

Revue neurologique·2024
Same author

Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.

Revue neurologique·2023
Same author

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11.

Journal of neuromuscular diseases·2023
Same author

Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies.

Neuromuscular disorders : NMD·2022
Same author

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Orphanet journal of rare diseases·2022

Area of Science:

  • Neurology
  • Immunology
  • Genetics

Context:

  • Myasthenia gravis (MG) is a rare autoimmune disorder characterized by autoantibodies against the muscular acetylcholine receptor (AChR).
  • The thymus plays a significant role in MG pathogenesis, with anomalies observed in its composition and function.
  • MG exhibits clinical diversity, with distinct seropositive and "antibody-negative" forms complicating diagnosis and treatment.

Purpose:

  • To elucidate the complex pathogenesis of myasthenia gravis, encompassing autoimmune mechanisms, thymic involvement, and distinct clinical presentations.
  • To explore the role of acetylcholine receptor (AChR) polymorphism in the diverse clinical expression of MG.
  • To identify genetic factors, including HLA system and gene polymorphisms, contributing to MG predisposition.

Summary:

  • Autoantibodies against acetylcholine receptors (AChR) are central to myasthenia gravis (MG), leading to receptor loss and post-synaptic membrane damage.
  • The thymus is implicated in MG pathogenesis, and "antibody-negative" forms suggest alternative pathogenic mechanisms targeting endplate components.
  • Clinical diversity in MG is influenced by AChR polymorphism, while genetic factors like HLA and gene polymorphisms contribute to disease predisposition.

Impact:

  • Improved understanding of myasthenia gravis pathogenesis, particularly "antibody-negative" forms, may lead to novel diagnostic and therapeutic strategies.
  • Identifying genetic predispositions can aid in risk assessment and personalized treatment approaches for myasthenia gravis patients.
  • Elucidating the role of AChR polymorphism enhances our comprehension of the varied clinical manifestations in myasthenia gravis.

Related Experiment Videos