Myotonic Dystrophy News and Research

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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

Keck Foundation awards UF $1M to study how proteins in cells are made

The Center for NeuroGenetics at the University of Florida has received a competitive $1 million grant from the W.M. Keck Foundation to study a new idea that challenges conventional understanding of how proteins in cells are made, and their impact on inherited diseases.

16 Apr 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

Scientists design compounds that act against myotonic dystrophy type 1 RNA

While RNA is an appealing drug target, small molecules that can actually affect its function have rarely been found. But now scientists from the Florida campus of The Scripps Research Institute have for the first time designed a series of small molecules that act against an RNA defect directly responsible for the most common form of adult-onset muscular dystrophy.

23 Feb 2012

Prosensa secures €23M in new equity financing

Prosensa, the Dutch biopharmaceutical company focusing on RNA-modulating therapeutics for rare diseases with high unmet needs, announced today that it has raised €23 million in new equity financing.

25 Jan 2012

People with myotonic muscular dystrophy more likely to develop cancer

People who have the most common type of adult muscular dystrophy also have a higher risk of getting cancer, according to a paper published today in the Journal of the American Medical Association.

14 Dec 2011

Insight into neurodegenerative diseases

For years, researchers in genome stability have observed that several neurodegenerative diseases-including Huntington's disease-are associated with cell-killing proteins that are created during expansion of a CAG/CTG trinucleotide repeat.

12 Apr 2011

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

MDA awards over $21M in grants for advancing critical neuromuscular research

Forty-two medical researchers and their labs have been awarded more than $21 million in grants by the Muscular Dystrophy Association to advance critical neuromuscular research in 2010. Many of the grants are multi-year awards to be dispersed over the next three years.

15 Apr 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

Researchers find compound that reverses type 1 myotonic dystrophy

A compound already used to treat pneumonia could become a new therapy for an inherited muscular wasting disease, according to researchers at the University of Oregon and the University of Rochester School of Medicine and Dentistry in New York.

7 Nov 2009

Small molecule blocks aberrant pathway associated with myotonic dystrophy

Researchers at the University of Illinois have designed a small molecule that blocks an aberrant pathway associated with myotonic dystrophy type 1, the most common form of muscular dystrophy.

8 Sep 2009

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

Chemists rationally design inhibitors against an RNA molecule that causes myotonic muscular dystrophy

Chemists at the University at Buffalo have used rational drug design to synthesize small, cell-permeable molecules that are effective in vitro against two common types of myotonic muscular dystrophy, a result that has implications for potentially curing muscular dystrophy, as well as other diseases.

9 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

Small molecules might block mutant protein production in Huntington's disease

Molecules that selectively interfere with protein production can stop human cells from making the abnormal molecules that cause Huntington's disease, researchers at UT Southwestern Medical Center have found.

5 May 2009

Small molecules might block mutant protein production in Huntington's disease

3 May 2009

Alternative splicing proteins prompt heart development

Just as the emotions it represents are dynamic, the heart's development requires dynamic shifts in proteins that prompt alternative spicing, a mechanism that allows a given gene to program the cell to make several proteins, said a group of researchers at Baylor College of Medicine in a report that appears online in the journal Proceedings of the National Academy of Sciences.

8 Dec 2008

Scientists discover new compounds to target muscular dystrophy

Using a drug-discovery technique in which molecules compete against each other for access to the target - the strand of toxic RNA that causes the most common form of muscular dystrophy in adults - a team at the University of Rochester Medical Center has identified several compounds that, in the laboratory, block the unwanted coupling of two molecules that is at the root of the disease.

19 Nov 2008

Risk factors for sudden death for adult muscular dystrophy identified

The largest assessment of people with adult muscular dystrophy has identified risk factors that can lead to sudden death for individuals with the most common form of this disease.

19 Jun 2008