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

Myotonia congenita.

L Gutmann1, L H Phillips

  • 1Department of Neurology, University of Virginia Health Sciences Center, Charlottesville 22908.

Seminars in Neurology
|September 1, 1991
PubMed
Summary

Myotonia can be autosomal dominant or recessive, with both types sharing diffuse myotonia but differing in weakness severity. Phenytoin is a recommended treatment for myotonia due to its safety and effectiveness in stabilizing muscle membranes.

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

Decline in antibiotic resistance and changes in the serotype distribution of Streptococcus pneumoniae isolates from children with acute otitis media; a 2001-2011 survey by the French Pneumococcal Network.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2015
Same author

Impact of the pneumococcal conjugate vaccines on invasive pneumococcal disease in France, 2001-2012.

Vaccine·2014
Same author

Assessment of five screening strategies for optimal detection of carriers of third-generation cephalosporin-resistant Enterobacteriaceae in intensive care units using daily sampling.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2014
Same author

Resistance exercise training modulates acute gene expression during human skeletal muscle hypertrophy.

Journal of applied physiology (Bethesda, Md. : 1985)·2014
Same author

Fighting the spread of AmpC-hyperproducing Enterobacteriaceae: beneficial effect of replacing ceftriaxone with cefotaxime.

The Journal of antimicrobial chemotherapy·2013
Same author

In vitro activity of cefoxitin and imipenem against Mycobacterium abscessus complex.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2013

Area of Science:

  • Neurology
  • Genetics
  • Pharmacology

Background:

  • Myotonia, characterized by delayed muscle relaxation, presents in two main forms: autosomal dominant and autosomal recessive generalized myotonia.
  • While both forms share the primary symptom of diffuse myotonia, recessive forms are associated with greater muscle weakness.
  • Despite genetic investigations, chromosomal linkage has not yet been established for either type of myotonia.

Purpose of the Study:

  • To differentiate between autosomal dominant and recessive myotonia (MC).
  • To explore the pathophysiological basis and treatment options for myotonia.
  • To evaluate the efficacy and safety of phenytoin as a treatment for myotonia.

Main Methods:

  • Comparative analysis of clinical features, electrophysiology, and pathophysiology between dominant and recessive MC.
  • Review of current treatment strategies for myotonia.
  • Assessment of phenytoin's side effect profile and response rate.

Main Results:

  • Autosomal dominant and recessive MC exhibit no significant electrophysiological or pathophysiological differences, with decreased membrane chloride conductance being the primary abnormality.
  • Recessive MC patients experience more pronounced weakness compared to dominant MC patients.
  • Phenytoin is identified as a first-line treatment option for myotonia, offering a favorable side effect profile and reasonable efficacy.

Conclusions:

  • Myotonia management focuses on muscle membrane stabilization, with phenytoin being a preferred therapeutic agent.
  • Understanding the nuances between dominant and recessive MC aids in appropriate patient care and treatment selection.
  • Further genetic research is warranted to identify specific chromosomal linkages for myotonia.

Related Experiment Videos