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Muscular Dystrophy Press Releases

New NIH logo

Publication highlights release of muscular dystrophy action plan
Friday, Apr 8, 2016
The Muscular Dystrophy Coordinating Committee (MDCC), a congressionally authorized group of representatives from federal agencies and patient advocates, recently released an updated version of its Action Plan for the Muscular Dystrophies. The plan is a comprehensive guide for addressing critical challenges facing people living with muscular dystrophy. An editorial, published in Muscle & Nerve, provides an overview of the plan, as well as recommendations for its use.

New NIH logo

New members selected for National Advisory Neurological Disorders and Stroke Council
Thursday, Feb 4, 2016
Six esteemed individuals have been selected to serve on the National Advisory Neurological Disorders and Stroke Council, the principal advisory body to the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health.

Mutation blocks nuclear transport

Nuclear transport problems linked to ALS and FTD
Friday, Oct 16, 2015
Three teams of scientists supported by the National Institutes of Health showed that a genetic mutation linked to some forms of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) may destroy neurons by disrupting the movement of materials in and out of the cell’s nucleus, or command center where most of its DNA is stored.

Photo showing effects of mutant profilin on axon growth.

New gene mutations linked to ALS and nerve cell growth dysfunction
Sunday, Jul 15, 2012
Researchers have linked newly discovered gene mutations to some cases of the progressive fatal neurological disease amyotrophic lateral sclerosis – ALS, also known as Lou Gehrig’s disease. Shedding light on how ALS destroys the cells and leads to paralysis, the researchers found that mutations in this gene affect the structure and growth of nerve cells.

NINDS Logo thumbnail

National Advisory Neurological Disorders and Stroke Council Welcomes Six New Members
Thursday, Feb 3, 2011
The NINDS announced that six new members have joined its National Advisory Neurological Disorders and Stroke Council, the Institute’s principal advisory body regarding research program planning and priorities. The new members are Ben A. Barres, PhD, Robert B. Darnell, MD, PhD, Sharon E. Hesterlee, PhD, Eve Esther Marder, PhD, Robert Enrico Pacifici, PhD, and Amita Sehgal, PhD.

A drawing that shows the biceps muscle in the arm and its internal structure.

NIH awards Muscular Dystrophy Cooperative Research Center Grants
Wednesday, Sep 29, 2010
Three grants totaling more than $4.5 million, from the National Institutes of Health, will be used to explore novel treatment strategies for muscular dystrophy. The grants designate Nationwide Children's Hospital in Columbus, Ohio, as a Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, and will continue funding two established centers at the University of Pennsylvania and University of Iowa.

Muscle wasting often causes 'winging' of the shoulder blades in FSHD.  Image courtesy of Dr. Marinos Dalakas, NINDS.

Discovery Opens Door to Therapeutic Development for FSH Muscular Dystrophy
Thursday, Aug 19, 2010
Scientists are closer to understanding what triggers muscle damage in one of the most common forms of muscular dystrophy, called facioscapulohumeral muscular dystrophy (FSHD). The work will allow researchers to test new theories and potential new treatments for the disease. Until now, there were few clues to the mechanism of FSHD and essentially no leads for potential cures.

NINDS Names Dr. Petra Kaufmann Director of the Office of Clinical Research
Wednesday, Sep 9, 2009
The National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health, has named Petra Kaufmann, M.D., M.Sc., as director of its Office of Clinical Research.

NIH Symposium Explores Promise of Stem Cell Therapies
Monday, Jul 14, 2008
Stem cells have been hailed as a toolkit to treat a host of diseases, but at an NIH symposium on May 6, researchers said they are still deciphering the toolkit’s instruction manual.

New Gene Therapy Vector May Lead to Treatment for Muscular Dystrophy
Monday, Apr 18, 2005
One of the biggest challenges in developing useful gene therapy is finding a way to get the beneficial gene into enough cells of the body to effectively treat the disease. Now, researchers have shown in rodents that a virus called adeno-associated virus 8 (AAV8) can effectively deliver a gene to all the skeletal muscles of the body. If it works the same way in humans, this virus-based approach may allow the first effective gene therapy for muscular dystrophy (MD) and similar diseases.

Faulty Muscle Repair Implicated in Muscular Dystrophies
Wednesday, May 21, 2003
Researchers have revealed what may be a totally new cause for muscular dystrophy (MD). A recent study shows that a protein defective in two types of late-onset MD plays a critical role in the normal repair of muscles.
Fact Sheet

Accurate and Affordable Diagnosis of Duchenne Muscular Dystrophy
Friday, Apr 18, 2003
Researchers have developed a simple and affordable blood test that detects the most common form of muscular dystrophy (MD) in more than 95 percent of cases.
Fact Sheet

A New Test for Myotonic Dystrophy: Exposing an Enemy That’s Too Big to See
Wednesday, Mar 26, 2003
Researchers have developed a genetic test that detects a common form of muscular dystrophy with 99 percent accuracy. The accurate diagnosis of myotonic muscular dystrophy type 2 (DM2) allows researchers to fully describe its clinical features for the first time.
Fact Sheet

Scientists Identify a New Kind of Genetic Problem in Muscular Dystrophy
Thursday, Aug 8, 2002
A newly identified genetic problem underlies a common neuromuscular disorder called facioscapulohumeral muscular dystrophy (FSHD), scientists say. In a new study, they show that deletion of repetitive DNA sequences in people with this disorder allows nearby genes to go into overdrive. The finding solves a decade-old riddle about the cause of this disorder and may ultimately lead to the first effective treatments.
Fact Sheet

Scientists Identify Gene for Spinocerebellar Ataxia 2
Thursday, Oct 31, 1996
Scientists have identified the gene altered in one of the most common hereditary ataxias, spinocerebellar ataxia 2 (SCA2). The discovery allows improved genetic testing and provides new clues about how genetic mutations cause several neurological disorders, including Huntington's disease. The findings are reported by three different groups in the November issue of Nature Genetics.

Gene "Knockouts" Reveal Critical Links in Synapse Formation
Thursday, May 16, 1996
New studies reveal exciting clues to the mystery of how synapses form between nerve and muscle cells. The findings shed new light on human development and may help reveal how molecular interactions are altered in muscular dystrophy.

New Type of Trinucleotide Mutation Found in Friedreich's Ataxia
Thursday, Mar 7, 1996
Scientists have identified a new type of trinucleotide repeat mutation that leads to Friedreich's ataxia (FA), a rare childhood neurodegenerative disease. The discovery allows accurate screening for carriers of the disease and may lead to the first effective treatments.

NINDS Scientists Develop Strategy To Speed Gene and Brain Research
Thursday, Jun 20, 1991
Using a novel strategy, scientists at the National Institute of Neurological Disorders and Stroke (NINDS) have isolated key identifying regions of more than 400 genes that work inside the human brain. The scientists say their work should help identify genetic defects that cause brain disease and speed progress of genetics research.