[HTML][HTML] Myotonic dystrophy and out-of-hospital arrest

A Kamara, SS Nijjer, AK Ghosh, R Grocott-Mason… - Clinical …, 2010 - ncbi.nlm.nih.gov
Discussion The genetic defect in MD is a trinucleotide repeat expansion at two different loci
representing two clinical variants. The MD1 form accounts for 98% of cases and is due to a …

Myotonic dystrophy as a potential killer

R Brenner, L Joerg, H Rickli - Acta cardiologica, 2009 - Taylor & Francis
A 19-year-old man suffered a cardiac arrest during a promenade with his friends. Cardiac
resuscitation was started immediately. Anamnesis uncovered that the father as well as a …

Myotonic Dystrophy

LM Franco, JC Skorupski - New England Journal of Medicine, 2009 - Mass Medical Soc
Myotonic Dystrophy | NEJM Skip to main content NEJM Group Follow Us Facebook Twitter
Instagram YouTube LinkedIn Prepare to become a physician, build your knowledge, lead a …

Forensic considerations in cases of myotonic dystrophy at autopsy

KJ Omond, RW Byard - Journal of forensic sciences, 2017 - Wiley Online Library
Myotonic dystrophy (DM) is a chronic, slowly progressive, autosomal‐dominant disorder with
delayed muscle relaxation after contraction, distal skeletal muscle weakness, and atrophy. It …

Myotonic dystrophy—Early detection and genetic counselling

T Schubert, F Jerusalem, AC Martenet, M Metaxas… - Journal of …, 1980 - Springer
Is is generally believed that because of the relatively high age of onset, early detection and
genetic counselling in cases of myotonic dystrophy is difficult, if not impossible. Accordingly …

[HTML][HTML] A patient with myotonic dystrophy type 1 presenting as parkinsonism

JH Choi, JY Lee, HJ Kim, B Jeon - Journal of Movement Disorders, 2018 - ncbi.nlm.nih.gov
The current body of literature contains 5 reports of myotonic dystrophy (DM) with
parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date …

[PDF][PDF] Myotonic dystrophy type 1: A snap diagnosis during a medical checkup

H Fujikawa, D Hayashi, M Sato - The American Journal of the Medical …, 2022 - Elsevier
A 39-year-old male presented to our hospital for an annual complete medical checkup (so-
called human dock in Japanese). He had a 10-year history of malaise. Physical examination …

Myotonic dystrophy and cardiac disorders.

V Rakocević-Stojanović, M Grujić, P Seferović… - Panminerva …, 2000 - europepmc.org
Myotonic dystrophy (MD) is a multisystem disease affecting numerous organs and systems.
Cardiac involvement is frequent. Sudden death, due to fatal cardiac rhythm and conduction …

Sudden cardiac death in myotonic dystrophy type 2

BGH Schoser, K Ricker, C Schneider-Gold… - Neurology, 2004 - AAN Enterprises
Medical records and follow-up data were reviewed in 297 genetically proven myotonic
dystrophy type 2 (DM2) patients. Patients were selected by the criteria of cardiac sudden …

Myotonic dystrophy

CA Thornton - Neurologic clinics, 2014 - neurologic.theclinics.com
A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious …