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

[Oculopharyngeal muscular dystrophy].

A Knoblauch, M Köppel

    Schweizerische Medizinische Wochenschrift
    |April 21, 1984
    PubMed
    Summary

    Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant genetic disorder. This study describes a Swiss family with OPMD, highlighting its slow progression and potential for severe complications.

    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

    Physical activity counseling during and following stem cell transplantation - patients' versus advisors' perspectives.

    Journal of communication in healthcare·2023
    Same author

    The anti SARS-CoV-2 activity of nanofibrous filter materials activated with metal clusters.

    Atmospheric Environment: X·2023
    Same author

    Lewis(y) antigen (CD174) and apoptosis in gastric and colorectal carcinomas: correlations with clinical and prognostic parameters.

    Histology and histopathology·2006
    Same author

    Increased prevalence of perennial allergic rhinitis in patients with obstructive sleep apnea.

    Respiration; international review of thoracic diseases·2004
    Same author

    Periodic limb movement syndrome.

    Journal of neurology, neurosurgery, and psychiatry·2002
    Same author

    Pattern separation and synchronization in spiking associative memories and visual areas.

    Neural networks : the official journal of the International Neural Network Society·2001

    Area of Science:

    • Genetics and Molecular Biology
    • Neurology
    • Ophthalmology

    Context:

    • Presents a detailed case study of a family affected by oculopharyngeal muscular dystrophy (OPMD) in eastern Switzerland.
    • Documents the genetic inheritance pattern and clinical manifestations across three generations.
    • Highlights the prevalence of OPMD within a specific familial lineage.

    Purpose:

    • To describe the clinical and genetic characteristics of oculopharyngeal muscular dystrophy (OPMD) in a multigenerational family.
    • To elucidate the autosomal dominant inheritance pattern and complete penetrance of the disorder.
    • To detail the progressive symptoms, including ptosis and dysphagia, and their impact on affected individuals.

    Summary:

    • A family from eastern Switzerland exhibits oculopharyngeal muscular dystrophy (OPMD) with an autosomal dominant inheritance pattern and complete penetrance.
    • Key symptoms include bilateral ptosis and dysphagia, typically emerging in the fourth decade and progressing slowly.
    • Late-stage symptoms involve severe ptosis, leading to compensatory head posture, and potentially disabling dysphagia, posing risks of starvation or aspiration pneumonia.

    Impact:

    • Provides valuable insights into the natural history and phenotypic variability of OPMD.
    • Underscores the importance of recognizing OPMD for timely diagnosis and management.
    • Suggests the potential benefit of surgical interventions for ptosis and dysphagia in affected individuals.

    Related Experiment Videos