Congenital Muscular Dystrophy News and Research

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UCI researchers discover gene critical for muscle repair

University of California, Irvine researchers have identified a gene expressed during regeneration that is critical for muscle repair.

12 Nov 2023

Japanese–European scientists detect novel genetic mitochondrial disorder

The list of known genetic mitochondrial disorders is ever-growing, and ongoing research continues to identify new disorders in this category.

15 Apr 2021

Study reveals molecular pathogenesis of muscular dystrophy-associated cardiomyopathy

In a study recently published in Nature Communications scientists at Okayama University describe the detailed molecular pathogenesis of muscular dystrophy-associated cardiomyopathy in mice lacking the fukutin gene (Fktn), the causative gene for Fukuyama muscular dystrophy.

13 Feb 2020

Stem cells derived from patients could lead to new treatments for congenital muscular dystrophies

Researchers at Queen Mary University of London and University College London have shown that using stem cells derived from patients could help find new treatments for a group of congenital muscular dystrophies.

30 Sep 2019

MDA announces 34 new grants totaling $9.9 million to accelerate neuromuscular research

The Muscular Dystrophy Association today announced the award of 34 new grants totaling more than $9.9 million for its summer round of funding. These new grants represent a continued commitment by MDA to fund groundbreaking research that will accelerate treatments and cures for the more than 40 diseases in its program.

24 Aug 2018

Researchers discover basic genetic mechanism that causes congenital myotonic dystrophy

For years, the underlying process that causes a debilitating muscle disorder in infants and young children has been largely unknown.

11 Jul 2017

Research suggests new type of congenital muscular dystrophy

A newly discovered mutation in the INPP5K gene, which leads to short stature, muscle weakness, intellectual disability, and cataracts, suggests a new type of congenital muscular dystrophy.

10 Feb 2017

Study discovers new form of congenital muscular dystrophy caused by faulty INPP5K gene

A new form of congenital muscular dystrophy has been discovered which is caused by mutations in a previously un-linked gene.

9 Feb 2017

Researchers investigate biochemical, physiological characteristics of facial and extraocular muscles

In a new study, a research team at Basel University Hospital in Switzerland investigates the biochemical and physiological characteristics of orbicularis oculi, a group of facial muscles that control the eyelids and are selectively spared or involved in different neuromuscular disorders. What they found also helps to explain why another set of muscles—the extraocular muscles that control the movement of the eye—are not affected by Duchenne muscular dystrophy, congenital muscular dystrophy, and aging.

12 Apr 2016

Tarix Orphan's TXA127 granted FDA Fast Track Designation for treatment of DMD patients

Tarix Orphan LLC, a privately held biopharmaceutical company focused on the treatment of rare neuromuscular disorders and connective tissue diseases, today announced that the U.S. Food and Drug Administration has granted Fast Track Designation to TXA127 (angiotensin 1-7) to reduce skeletal muscle damage and fibrosis and thereby improve muscle strength in Duchenne Muscular Dystrophy (DMD) patients.

6 Oct 2015

Prothelia and University of Nevada, Reno enter into agreements with Alexion for development of Laminin-111

Prothelia Incorporated (Prothelia) and University of Nevada, Reno announce that they have entered into strategic agreements with Alexion for the development of Laminin-111, a patented experimental protein replacement therapy for merosin-deficient congenital muscular dystrophy (MDC1A), a life-threatening, ultra-rare disease caused by a genetic deficiency of the Laminin-211 protein.

26 Feb 2014

Prothelia, University of Nevada, Reno and Alexion partner to develop Laminin-111 for MDC1A

Prothelia Incorporated and University of Nevada, Reno announce that they have entered into strategic agreements with Alexion for the development of Laminin-111, a patented experimental protein replacement therapy for merosin-deficient congenital muscular dystrophy (MDC1A), a life-threatening, ultra-rare disease caused by a genetic deficiency of the Laminin-211 protein.

13 Feb 2014

Study: 3 enzymes required for building sugar superstructure involved in muscular dystrophies

For many inherited diseases, such as cystic fibrosis or Huntington disease, the disease-causing genetic mutation damages or removes a protein that has an essential role in the body. This protein defect is the root cause of the disease symptoms.

9 Aug 2013

A paradigm shift for treatment of muscular dystrophy

Researchers at Boston University College of Health & Rehabilitation Sciences: Sargent College have identified a combinatorial therapeutic approach that has proven effective in treating muscular dystrophy in a mouse model.

26 Jun 2013

CDI introduces MyCell Services

Cellular Dynamics International, Inc. (CDI), the world's largest commercial producer of human induced pluripotent stem (iPS) cell lines and tissue cells, today announced the launch of its MyCell Services.

7 Jun 2012

Myomatrix 2012 conference to take place from April 22-24

The nation's leading scientists and clinicians exploring treatment breakthroughs for congenital muscular dystrophy will convene April 22-24 on the campus of the University of Nevada, Reno, where research by Dean Burkin has led to a potential therapy.

19 Apr 2012

Researchers uncover exact function of LARGE enzyme linked with MD

Researchers at the University of Iowa have worked out the exact function of an enzyme that is critical for normal muscle structure and is involved in several muscular dystrophies. The findings, which were published Jan. 6 in the journal Science,, could be used to develop rapid, large-scale testing of potential muscular dystrophy therapies.

10 Jan 2012

Noninvasive brain computer interface could turn thoughts into motion

"Brain cap" technology being developed at the University of Maryland allows users to turn their thoughts into motion. Associate Professor of Kinesiology José 'Pepe' L. Contreras-Vidal and his team have created a non-invasive, sensor-lined cap with neural interface software that soon could be used to control computers, robotic prosthetic limbs, motorized wheelchairs and even digital avatars.

28 Jul 2011

First standard-of-care guidelines for children with congenital muscular dystrophy

In 2008, Eunice and Andrew Kim were facing a situation that would bewilder any parents: Two expert pediatric surgeons were giving opposing advice about treatment for their daughter.

8 Dec 2010

Sticky protein protects cells from mechanical stress

A new study by scientists at the University of Iowa shows why muscle membranes don't rupture when healthy people exercise.

26 Jul 2009