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

[Progressive myoclonic epilepsy]

T T Sørensen1, M J Kjeldsen, M L Friis

  • 1Neurologisk afdeling N, Odense Universitetshospital.

Ugeskrift for Laeger
|January 8, 1996
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

Gender-specific outcomes in pilonidal sinus disease: Female outcomes after cleft lift surgery in a large prospective Danish cohort.

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland·2025
Same author

Evaluation of patients with symptoms suggestive of chronic polyneuropathy.

Journal of clinical neuromuscular disease·2008
Same author

The occurrence and characteristics of auras in a large epilepsy cohort.

Acta neurologica Scandinavica·2008
Same author

Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.

Acta neurologica Scandinavica·2007
Same author

Distension-induced duodenal contractions vary with the phases of the canine interdigestive migrating motility complex.

International journal of surgical investigation·2002
Same author

Diagnostic yield by testing small fiber function in patients examined for polyneuropathy.

Journal of the peripheral nervous system : JPNS·2002
Same journal

[Financial support scheme following a recognised occupational injury].

Ugeskrift for laeger·2026
Same journal

[Foreign body granulomas in the lungs after several years of parenteral nutrition].

Ugeskrift for laeger·2026
Same journal

[Vaginal aids for stress incontinence].

Ugeskrift for laeger·2026
Same journal

[Osteodystrophy in chronic liver disease].

Ugeskrift for laeger·2026
Same journal

[Tympanic membrane perforation].

Ugeskrift for laeger·2026
Same journal

[Preanalytical factors affecting clinical biochemical blood test results].

Ugeskrift for laeger·2026
See all related articles

Progressive myoclonic epilepsy (PME) is a rare genetic neurological disorder causing seizures, dementia, and neurological decline. Early diagnosis and centralized treatment are recommended for better management of this severe epilepsy syndrome.

Area of Science:

  • Neurology
  • Genetics
  • Neuroscience

Background:

  • Progressive myoclonic epilepsy (PME) is a rare syndrome encompassing myoclonias, epilepsy, progressive dementia, and neurological deficits.
  • PME arises from various rare, genetically determined disorders with incompletely understood mechanisms.
  • The syndrome exhibits variations in onset age, duration, clinical presentation, and neuropathology, with ethnic and geographic differences in prevalence.

Observation:

  • PME is frequently inherited in an autosomal recessive pattern.
  • Clinical suspicion should arise in severe myoclonic epilepsy cases with progressive neurological disability and poor response to antiepileptic drugs.
  • Diagnostic procedures may include skin, mucosa, or muscle biopsies.

Findings:

  • Research into PME enhances understanding of the neurobiological underpinnings of epilepsy.

Related Experiment Videos

  • Identifying the specific genetic cause is crucial for understanding disease heterogeneity.
  • Variations in clinical and pathoanatomical features contribute to the syndrome's complexity.

    • Implications:

    • Centralization of treatment for these rare diseases is advised.
    • Improved understanding of PME pathogenesis can inform therapeutic strategies for epilepsy.
    • Early recognition and biopsy-proven diagnosis are critical for patient management and research.