Myotonia News and Research

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Calcium channel blockers reverse muscle weakness in animal model of myotonic dystrophy type 1

New research has identified the specific biological mechanism behind the muscle dysfunction found in myotonic dystrophy type 1 (DM1) and further shows that calcium channel blockers can reverse these symptoms in animal models of the disease.

2 Jan 2024

Next-generation sequencing provides novel insights into the mechanisms underlying autism and myotonic muscular dystrophy

The pathomechanistic connection between autism and myotonic muscular dystrophy type 1.

16 Aug 2023

Mouse model reveals link between GABA receptors and sleepiness in people with myotonic dystrophy

People with the inherited disorder myotonic dystrophy (DM) often experience excessive daytime sleepiness and fatigue, as well as altered responses to anesthetics that can put them at risk for complications when hospitalized.

29 Sep 2022

A new 3D model for myotonic dystrophy

Myotonic dystrophy is a hereditary degenerative neuromuscular disease that occurs mainly in adults, affecting about 50,000 people only in Spain.

4 May 2021

Study reveals mechanisms that cause muscle weakness in patients with Becker disease

Muscle weakness in patients with Becker disease is caused by unusual electrical activity in muscle fibres termed 'plateau potentials' that make them temporarily inactive, says a study published today in eLife.

27 Apr 2021

Study identifies potential genetic link in sudden infant death syndrome

Rare genetic mutations associated with impairment of the breathing muscles are more common in children who have died from sudden infant death syndrome (also known as ‘cot death’) than in healthy controls, suggesting a possible genetic element of the disorder, according to a case-control study in the UK and USA published in The Lancet.

29 Mar 2018

Isis Pharmaceuticals begins ISIS-DMPK Rx clinical study in DM1 patients

Isis Pharmaceuticals, Inc. announced today that it has initiated a study for ISIS-DMPK Rx in patients with Myotonic Dystrophy Type 1 (DM1). DM1 is a rare genetic neuromuscular disease caused by the production of toxic dystrophia myotonica-protein kinase (DMPK) RNA in cells. ISIS-DMPKRx is specifically designed to reduce toxic DMPK RNA.

16 Dec 2014

Systemic delivery of antisense oligonucleotides neutralizes mutant RNA toxicity in mice with DM1

By targeting the specific mutation that causes the hereditary neuromuscular disease myotonic dystrophy, it is possible to neutralize the mutant RNA toxicity and minimize or even eliminate the disabling symptoms of the disease.

25 Feb 2013

Heart drug could ease rare muscle disorder

The anti-arrhythmic drug mexiletine may improve symptoms in patients with nondystrophic myotonias, shows a small randomized trial published in JAMA.

11 Oct 2012

Mexiletine improves patient-reported stiffness in nondystrophic myotonia

An older medication originally approved to treat heart problems eases the symptoms of a very rare muscle disease that often leaves its sufferers stiff and in a good deal of pain, physicians and researchers report in the Oct. 3 issue of the Journal of the American Medical Association.

4 Oct 2012

Mexiletine use improves stiffness in patients with nondystrophic myotonias

Preliminary research finds that for patients with nondystrophic myotonias (NDMs), rare diseases that affect the skeletal muscle and cause functionally limiting stiffness and pain, use of the anti-arrhythmic medication mexiletine resulted in improvement in patient-reported stiffness, according to a preliminary study in the October 3 issue of JAMA.

3 Oct 2012

Researchers hold new implications for pathogenesis of myotonic dystrophy

An important breakthrough could help in the fight against myotonic dystrophy. The discovery, recently published in the prestigious scientific journal Cell, results from an international collaboration between researchers at the IRCM, the Massachusetts Institute of Technology (MIT), the University of Southern California and Illumina.

13 Sep 2012

Myotonia less important to patients with myotonic dystrophy than other symptoms

Complex, multi-system diseases like myotonic dystrophy - the most common adult form of muscular dystrophy - require physicians and patients to identify which symptoms impact quality of life and, consequently, what treatments should take priority. However, a new study out this month in the journal Neurology reveals that there is often a disconnect between the two groups over which symptoms are more important, a phenomenon that not only impacts care but also the direction of research into new therapies.

26 Jul 2012

Invasive strategy benefits patients with myotonic dystrophy type 1 neuromuscular disorder

Patients with a cardiac irregularity and myotonic dystrophy type 1 (a severe neuromuscular disorder with a high risk of sudden death) who received an invasive treatment strategy that included testing of their heart's electrical conduction system and if needed, implantation of a device such as a pacemaker, had an associated higher rate of 9-year survival compared to patients treated noninvasively, according to a study in the March 28 issue of JAMA.

28 Mar 2012

Medication used to treat heart arrhythmias also reduces myotonic dystrophy: Researchers

A medication most often used to treat heart arrhythmias also reduces a central symptom of myotonic dystrophy, the most common type of muscular dystrophy in adults.

5 May 2010

Loss of key proteins may account for molecular abnormalities associated with myotonic dystrophy

Research on the genetic defect that causes myotonic muscular dystrophy has revealed that the mutation disrupts an array of metabolic pathways in muscle cells through its effects on two key proteins.

24 Jan 2010

New approach to remove toxic agent that causes myotonic dystrophy

Cell biologists from the Radboud University Nijmegen Medical Centre (Nijmegen, the Netherlands) describe a new approach to remove the toxic agent that causes the neuromuscular disease myotonic dystrophy. Their findings are published in the scientific journal The Proceedings of the National Academy of Sciences.

11 Aug 2009

Genetic source of muscular dystrophy blocked

Researchers at the University of Rochester Medical Center have found a way to block the genetic flaw at the heart of a common form of muscular dystrophy. The results of the study, which were published today in the journal Science, could pave the way for new therapies that essentially reverse the symptoms of the disease.

17 Jul 2009

Researchers identify compound that eliminates myotonia - a symptom of muscular dystrophy

Researchers at the University of Rochester Medical Center (URMC) have identified a compound that eliminates myotonia - a symptom of muscular dystrophy - in mice. The research was published online in the Journal of Clinical Investigation.

16 Nov 2007

ClC-1 helps mice get a move on

In addition to the progressive muscle weakness and degeneration common to all forms of muscular dystrophy, patients with the most common form of muscular dystrophy affecting adults, myotonic dystrophy type 1 (DM1), also experience an inability to voluntarily relax the muscles (a problem known as myotonia).