2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Developed by the task force for the …

K Zeppenfeld, J Tfelt-Hansen, M De Riva… - European heart …, 2022 - academic.oup.com
4004 ESC Guidelines label use of medication should be limited to situations where it is in
the patient's interest to do so, with regard to the quality, safety, and efficacy of care, and only …

Repeat expansion diseases

H Paulson - Handbook of clinical neurology, 2018 - Elsevier
More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …

[HTML][HTML] Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms

G Meola, R Cardani - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2015 - Elsevier
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …

[HTML][HTML] Core clinical phenotypes in myotonic dystrophies

S Wenninger, F Montagnese, B Schoser - Frontiers in neurology, 2018 - frontiersin.org
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent
multisystemic muscular dystrophies in adulthood. They are progressive, autosomal …

Myotonic dystrophy

JI Hamel - CONTINUUM: Lifelong Learning in Neurology, 2022 - journals.lww.com
PURPOSE OF REVIEW Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2
(DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and …

[HTML][HTML] Diagnostic odyssey of patients with myotonic dystrophy

JE Hilbert, T Ashizawa, JW Day, EA Luebbe… - Journal of …, 2013 - Springer
The onset and symptoms of the myotonic dystrophies are diverse, complicating their
diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes …

[HTML][HTML] Cardiovascular manifestations of myotonic dystrophy

K Wahbi, D Furling - Trends in cardiovascular medicine, 2020 - Elsevier
Patients with myotonic dystrophy, the most common neuromuscular dystrophy in adults,
have a high prevalence of arrhythmic complications with increased cardiovascular mortality …

[HTML][HTML] Myotonic dystrophy type 2: the 2020 update

G Meola - Acta Myologica, 2020 - ncbi.nlm.nih.gov
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy.
Phenotypes of DM1 and DM2 are similar, but there are some important differences …

[HTML][HTML] Myotonic dystrophies: targeting therapies for multisystem disease

S LoRusso, B Weiner, WD Arnold - Neurotherapeutics, 2018 - Elsevier
Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with
muscle weakness, atrophy, and myotonia but also prominent multisystem involvement …

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders

WJ Groh, D Bhakta, GF Tomaselli, RG Aleong… - Heart rhythm, 2022 - Elsevier
This international multidisciplinary document is intended to guide electrophysiologists,
cardiologists, other clinicians, and health care professionals in caring for patients with …