Results 11 to 20 of about 2,985,698 (230)

Cardiac Conduction Disorders as Markers of Cardiac Events in Myotonic Dystrophy Type 1

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background Myotonic dystrophy type 1 involves cardiac conduction disorders. Cardiac conduction disease can cause fatal arrhythmias or sudden death in patients with myotonic dystrophy type 1.
Hideki Itoh   +14 more
doaj   +2 more sources

An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies

open access: yesFrontiers in Neurology, 2020
Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in ...
Fernando Morales, Michael Pusch
doaj   +2 more sources

New Classification and Treatment for Myotonic Disorders

open access: yesInternal Medicine, 2005
Myotonia is repetitive firing of muscle action potentials causing prolonged muscle contractions even after mechanical stimulations to the muscles have ceased. Most common myotonic disorder is myotonic dystrophy which is now termed DM1, myotonic dystrophy type 1. In Japan, proximal myotonic myopathy, which is now called DM2 has not been reported.
T. Kurihara
openaire   +4 more sources

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia. [PDF]

open access: yesEur J Neurol
ABSTRACT Background Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. Objective This guideline aims to provide updated, evidence‐based recommendations on investigating persons older than 18 years.
Kyriakides T   +15 more
europepmc   +2 more sources

Limited orthodontic treatment in myotonic dystrophy II [PDF]

open access: yesRomanian Journal of Neurology, 2017
Rationale. Myotonic dystrophy (MD) is a multisystemic autosomal dominant disease characterized by myotonia and progressive muscular weakness and atrophy. Objective. The purpose of this study was to describe the dental, skeletal and muscular features in
Aurelia Magdalena Enache   +4 more
doaj   +1 more source

A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism [PDF]

open access: yesJournal of Movement Disorders, 2018
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.
Ji-Hyun Choi   +3 more
doaj   +1 more source

Noninvasive assessment of respiratory muscle strength and activity in Myotonic dystrophy [PDF]

open access: yes, 2017
To evaluate sensitivity/specificity of the maximum relaxation rate (MRR) of inspiratory muscles, amplitude of electromyographic activity of the sternocleidomastoid (SCM), scalene (SCA), parasternal (2ndIS) and rectus abdominis (RA) muscles; lung function
Aliverti, Andrea   +8 more
core   +13 more sources

Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2019
Objective: To report a case with Myotonic dystrophy type I with successful preimplantation genetic diagnosis-karyomapping. Case report: A 34-year-old female carrier of myotonic dystrophy type I was treated at our clinic with a successful pregnancy after ...
Cheng-Wei Wang   +2 more
doaj   +1 more source

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]

open access: yes, 2016
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly   +7 more
core   +2 more sources

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