Myotonic Dystrophy News and Research

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Regular cycling can improve mobility in patients with myotonic dystrophy

A study led by McMaster University researchers has found that regular cycling can greatly improve mobility in patients with myotonic dystrophy (MD), a genetic disease that causes muscle degeneration.

11 Apr 2022

Molecular autopsy of dried blood spots can identify underlying cause of sudden cardiac death in a young person

The underlying cause of sudden cardiac death (SCD) in a young person is often difficult to identify. A genetic analysis could provide more information in many cases, but blood samples are not collected routinely at the time of death, and DNA extracted from the tissues collected at autopsy is damaged because of the way they are fixed in formalin and paraffin-embedded.

30 Aug 2021

Innovative therapeutic platform for blood-to-brain delivery of antisense oligonucleotide therapy

Antisense oligonucleotide (ASO) therapy has the potential to ameliorate many neurodegenerative diseases at the genetic level to suppress the production of harmful proteins or non-coding RNAs.

12 Aug 2021

UVA researchers discover potential treatment approaches for muscle loss in myotonic dystrophy type 1

University of Virginia School of Medicine researchers have identified new insights and potential treatment approaches for muscle loss in myotonic dystrophy type 1 (DM1), the most common form of muscular dystrophy.

7 Jun 2021

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 demonstrates intricate relationship between Prpf19 and Exoc7 in inherited ataxias

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph Disease (MJD), describes the most common form of dominantly inherited ataxia in many populations worldwide, including Hong Kong and mainland China.

1 Mar 2021

Study addresses multiple challenges of the pathogenesis of Huntington's disease

Recent genetic data from patients with Huntington's disease (HD) show that DNA repair is an important factor that determines how early or late the disease occurs in individuals who carry the expanded CAG repeat in the HTT gene that causes HD.

12 Feb 2021

Canadian Neuromuscular Disease Registry increases patient access to research, clinical trials

The Canadian Neuromuscular Disease Registry (CNDR) was launched in 2010 to increase efficient patient access to cutting-edge research and clinical trials, to increase understanding of the natural history and epidemiology of neuromuscular disease across Canada, and to facilitate research collaboration.

3 Feb 2021

Adding exercise to genetic treatment reverses fatigue in mice with common myotonic dystrophy

Adding exercise to a genetic treatment for myotonic dystrophy type 1 (DM1) was more effective at reversing fatigue than administering the treatment alone in a study using a mouse model of the disease.

30 Nov 2020

New strategy shows promises for treating RNA-repeat expansion disorders

A new strategy for treating a variety of diseases known as RNA-repeat expansion disorders, which affect millions of people, has shown promise in proof-of-principle tests conducted by scientists at Scripps Research.

8 Nov 2020

RCas9 gene therapy clears toxic RNA buildup in mouse model of myotonic dystrophy

Myotonic dystrophy type I is the most common type of adult-onset muscular dystrophy. People with the condition inherit repeated DNA segments that lead to the toxic buildup of repetitive RNA, the messenger that carries a gene's recipe to the cell's protein-making machinery.

14 Sep 2020

Scientists gain new insight into the pathological mechanisms behind two neurodegenerative diseases

An international team led by Emory scientists has gained insight into the pathological mechanisms behind two devastating neurodegenerative diseases.

6 May 2020

Scientists reveal ability to reverse Huntington's disease-causing DNA repeat mutations in the lab

Neurodegenerative diseases, like Huntington's disease and myotonic dystrophy, are often referred to as DNA repeat diseases, named because of long repeated sequences in the DNA of patients. Increasing repeat expansion length in the affected tissues contribute to earlier age of disease onset and worsen the progression and severity of the disease over time.

27 Feb 2020

Potential drug targets cause of adult-onset muscular dystrophy

People diagnosed with myotonic dystrophy type 1 have difficulty unclenching muscles due to a genetic defect that generates toxic material within their cells.

1 Apr 2019

Creative solutions to enhance patient's point of view in neuromuscular research

The old-fashioned paternalistic relationship between doctors and patients has gradually evolved into a more collaborative one in the era of patient-centered medicine.

7 Feb 2019

New method to speed up genetic diagnosis of Huntington’s disease

Elongated segments of DNA cause Huntington's disease and certain other disorders of the brain. Researchers funded by the SNSF have developed a method to determine the length of the mutated genes quickly and easily.

10 Jan 2019

New mouse model shows potential for rapid identification of promising muscular dystrophy therapies

A Massachusetts General Hospital research team has created a new mouse model of a common form of muscular dystrophy with the potential of rapidly distinguishing promising therapeutic drugs from those unlikely to be successful.

13 Dec 2018

Asuragen launches assay to help diagnose Steinert’s Disease

Asuragen, Inc., a molecular diagnostics company delivering easy-to-use products for complex testing in genetics and oncology, today announced the CE marking and launch of the AmplideX DM1 Dx Kit, which simplifies the analysis of repeat expansions within the DMPK gene and is intended to aid in the diagnosis of Myotonic Dystrophy Type I (DM1), also known as Steinert's Disease.

4 Dec 2018

First bifacial molecule can invade double-stranded DNA or RNA

Carnegie Mellon University researchers have developed a synthetic molecule that can recognize and bind to double-stranded DNA or RNA under normal physiological conditions. The molecule could provide a new platform for developing methods for the diagnosis and treatment of genetic conditions.

13 Nov 2018

Study highlights role of non-mutational mechanism in myotonic dystrophy, other types of arrhythmias

A team of researchers at Baylor College of Medicine reveals new insights into what can be causing life-threatening cardiac-related events in myotonic dystrophy type 1.

28 Sep 2018