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 myotonic dystrophy].

G Lundemo1, A Laerdal

  • 1Klinisk neurofysiologisk laboratorium, Sentralsjukehuset i Rogaland, Stavanger.

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|June 10, 1992
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

Soluble CD30 and CD23 in cord blood are not related to atopy in early childhood.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology·2000
Same author

Median nerve recovery in carpal tunnel syndrome.

Muscle & nerve·2000
Same author

[Personnel crisis of Norwegian laboratory medicine].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·1993
Same author

[Crib death among children born during 1985-1989 at the Rogeland Central Hospital].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·1991
Same author

[Crib death and smoking during pregnancy].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·1991
Same author

Multicentric reticulohistiocytosis in a 9-year-old boy.

Arthritis and rheumatism·1988
Same journal

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Same journal

Correction: Management of acute epistaxis.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Same journal

A woman in her 70s with chest pain and elevated troponin T levels.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Same journal

More systematic follow-up after childbirth.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Same journal

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
Same journal

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2026
See all related articles

Congenital myotonic dystrophy causes severe hypotonia in newborns, often inherited maternally. This severe form presents higher risks and requires careful differential diagnosis from other infantile neuromuscular disorders.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Myotonic dystrophy is a multisystem disorder with adult and congenital forms.
  • Congenital myotonic dystrophy (CDM) is a severe, maternally inherited subtype.
  • CDM presents with significant neuromuscular impairment and increased perinatal mortality.

Observation:

  • This report details a clinical case of congenital myotonic dystrophy.
  • The case highlights the characteristic severe hypotonia and associated manifestations.
  • Diagnostic challenges in differentiating CDM from other causes of infantile hypotonia are discussed.

Findings:

  • Congenital myotonic dystrophy is a distinct clinical entity with severe outcomes.
  • Maternal inheritance is a key characteristic of the congenital form.

Related Experiment Videos

  • Perinatal mortality rates are significantly elevated in CDM.

    • Implications:

    • Early and accurate diagnosis of CDM is crucial for management.
    • Understanding differential diagnoses is vital for appropriate pediatric care.
    • Further research into CDM pathogenesis and treatment is warranted.