Muscular Dystrophy News and Research

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The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

Researchers illustrate the importance and value of sharing negative research results

In the era of "publish or perish," research results that disprove the hypothesis tested often go unpublished. In addition, many researchers who have been unable to reproduce results from other laboratories have found it difficult to publish their findings.

18 Oct 2021

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), announced that the organization's Newborn Screening Pilot has successfully reached its completion, screening more than 36,000 babies born in New York State over the last two years.

8 Oct 2021

Specialized cells that keep the heart beating have ability to regenerate after birth, study reveals

Specialized cells that conduct electricity to keep the heart beating have a previously unrecognized ability to regenerate in the days after birth, a new study in mice by UT Southwestern researchers suggests.

7 Oct 2021

Early treatment with ACE inhibitors improves cardiac outcomes of patients with Becker muscular dystrophy

There is no consensus on when to introduce cardioprotective treatment in patients with Becker muscular dystrophy (BMD), and practice varies widely.

20 Sep 2021

Newly developed antibody may be used to treat muscular dystrophy

Northwestern Medicine scientists have developed an antibody that they believe can be used to treat muscular dystrophy, findings that were published in Science Translational Medicine.

13 Sep 2021

New gene-delivering workhorse could make gene therapy safer, more effective for muscle diseases

Genetic muscle diseases lead to progressive muscle wasting and often early death, with few treatment options and no cure.

9 Sep 2021

Pfizer COVID-19 jab side effects likely to be mild to moderate in extremely vulnerable 12-15 year olds

The side effects of the Pfizer-BioNTech jab against COVID-19 are likely to be mild to moderate and clear up quickly in 12-15 year olds at high risk of complications from the infection because of certain coexisting conditions, reveals a small study accepted for publication in the Archives of Disease in Childhood.

28 Aug 2021

Research could enable clinicians to produce patient-matched cells for treating muscle-related diseases

Investigators who previously developed a recipe for turning skin cells into primitive muscle-like cells that can be maintained indefinitely in the lab without losing the potential to become mature muscle have now uncovered how this recipe works and what molecular changes it triggers within cells.

19 Aug 2021

Telehealth helped physical therapists to provide essential care for pediatric patients during pandemic

As a pediatric physical therapist in Clinton, Missouri, Jessica Luechtefeld was used to a hands-on coaching approach whenever meeting with her patients at their preschools, in their homes or at the Child's Play Therapy clinic.

18 Aug 2021

Obstructive sleep apnea may affect heart health and increase blood pressure in children

Obstructive sleep apnea, a form of sleep-disordered breathing, is common in children and adolescents and may be associated with elevated blood pressure and changes in heart structure.

18 Aug 2021

Umbilical cord-derived mesenchymal stem cells show promise to treat muscular dystrophies

Results of a compassionate-use study released in STEM CELLS Translational Medicine show promising results for treating muscular dystrophies with mesenchymal stem cells (MSCs) derived from Wharton's jelly (WJ), a substance found in the umbilical cord. Led by doctors at Klara Medical Center (KMC), Czestochowa, Poland, these WJ-MSC treatments resulted in significant improvement in several body muscles in most of the patients, with no serious side effects.

27 Jul 2021

A path to treat currently untreatable cases of cystic fibrosis is clearly achievable, study suggests

An experimental drug reported in Nature Communications suggests that a "path is clearly achievable" to treat currently untreatable cases of cystic fibrosis disease caused by nonsense mutations.

19 Jul 2021

Dying patients with rare diseases struggle to get experimental therapies

At 15, Autumn Fuernisen is dying. She was diagnosed at age 11 with a rare degenerative brain disorder that has no known cure or way to slow it down: juvenile-onset Huntington's disease.

14 Jul 2021

New discovery provides clues to elucidate the pathogenesis of muscle diseases

A research collaboration based in Kumamoto University, Japan has discovered that muscles and the resident stem cells (satellite cells) responsible for muscle regeneration retain memory of their location in the body.

6 Jul 2021

Anti-inflammatory nanoparticles could be applied to the weakening muscles of DMD patients

Muscular dystrophies are a group of genetic diseases that lead to the progressive loss of muscle mass and function in patients, with the incurable Duchenne Muscular Dystrophy (DMD), which affects all the body's muscles primarily in boys, being particularly severe.

25 Jun 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

New initiative to reduce treatment delays for patients with rare diseases

The Treatabolome project is a research initiative to develop a freely available, interoperable online platform dedicated to disseminating rare disease and gene-specific treatment information to healthcare professionals regardless of their level of specialized expertise.

1 Jun 2021

Intranasal COVID-19 therapeutic shows promise in preclinical trials

Researchers from the US and Denmark recently described a novel therapeutic option that targets the SARS-CoV-2 ribonucleic acid (RNA) using locked nucleic acid antisense oligonucleotides (LNA ASOs). They identified an LNA ASO that binds to the 5’ leader sequence of SARS-CoV-2 ORF1a/b. This disrupts a highly conserved stem-loop structure with nanomolar efficacy and inhibits viral replication in host cells.

20 May 2021

Novel 'CopyCatcher' detects when precise copying of genetic information takes place in cells

Researchers at the University of California San Diego have laid the groundwork for a potential new type of gene therapy using novel CRISPR-based techniques.

11 May 2021

New gene therapy restores dystrophin protein in patients with Duchenne muscular dystrophy

UT Southwestern scientists successfully employed a new type of gene therapy to treat mice with Duchenne muscular dystrophy (DMD), uniquely utilizing CRISPR-Cas9-based tools to restore a large section of the dystrophin protein that is missing in many DMD patients.

3 May 2021