Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

[Myotonic dystrophy].

D Daugaard¹, T Dalager, J Dalhøj

¹Neurologisk afdeling N, Odense Sygehus.

Ugeskrift for Laeger

|August 19, 1991

Summary

Myotonic dystrophy (MD) is a progressive, inherited disorder affecting multiple organs. Early diagnosis in relatives is crucial for managing risks and enabling prenatal diagnosis through DNA technology.

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

Botulinum toxin treatment improves dysphagia in patients with oculopharyngeal muscular dystrophy and sporadic inclusion body myositis.

Journal of neurology·2022

Same author

Surgeons' posture and muscle strain during laparoscopic and robotic surgery.

The British journal of surgery·2020

Same author

Surgeons' muscle load during robotic-assisted laparoscopy performed with a regular office chair and the preferred of two ergonomic chairs: A pilot study.

Applied ergonomics·2018

Same author

Effect of resistance training on headache symptoms in adults: Secondary analysis of a RCT.

Musculoskeletal science & practice·2017

Same author

Repeated treatments of drooling with botulinum toxin B in neurology.

Acta neurologica Scandinavica·2014

Same author

Somatosensory input and oromandibular dystonia.

Clinical neurology and neurosurgery·2012

Area of Science:

Neurology
Genetics
Internal Medicine

Background:

Myotonic dystrophy (MD) is a dominantly inherited, multi-organic disease.
It exhibits complete penetrance but highly variable expression among affected families.

Observation:

Cardinal symptoms include myotonia, muscle atrophy, cataracts, and characteristic facial appearance.
Additional manifestations involve cardiac arrhythmias, endocrine, and mental changes.
Patients are at increased risk during anesthesia and surgery due to arrhythmias and respiratory muscle weakness.

Findings:

Diagnosis is typically confirmed by electromyography in clear-cut cases.
Mild or familial cases may be overlooked without careful examination of relatives.
Recent advancements in DNA technology facilitate prenatal diagnosis.

Implications:

Meticulous examination of relatives of severe MD cases is essential for early detection.
Understanding variable expression aids in identifying at-risk individuals.
Prenatal diagnosis offers reproductive options for families affected by Myotonic Dystrophy.

Related Experiment Videos